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1. Same Diagnosis but Different Story! A Tale of Two Primary Lymphomas of the Calvaria

Author: Charles Champeaux-Depond, Anne-Laure Bernat, and Marc Polivka
Subjects: primary bone lymphoma, calvaria, cranial vault, skull tumour, b-cell lymphoma, Medicine
Abstract: We present 2 cases of isolated tumour of the calvaria that underwent a different management but, unexpectedly, the same very rare diagnosis of primary diffuse large B-cell lymphoma of the cranial vault. Unfortunately, the outcome was the opposite due to numerous factors. We discuss herein the radiological diagnosis and surgical options in the light of the literature.
Published: 2022
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2. The dural angioleiomyoma harbors frequent GJA4 mutation and a distinct DNA methylation profile

Author: Arnault Tauziède-Espariat, Thibaut Pierre, Michel Wassef, David Castel, Florence Riant, Jacques Grill, Alexandre Roux, Johan Pallud, Edouard Dezamis, Damien Bresson, Sandro Benichi, Thomas Blauwblomme, Djallel Benzohra, Guillaume Gauchotte, Celso Pouget, Sophie Colnat-Coulbois, Karima Mokhtari, Corinne Balleyguier, Frédérique Larousserie, Volodia Dangouloff-Ros, Nathalie Boddaert, Marie-Anne Debily, Lauren Hasty, Marc Polivka, Homa Adle-Biassette, Alice Métais, Emmanuèle Lechapt, Fabrice Chrétien, Felix Sahm, Philipp Sievers, Pascale Varlet, and the RENOCLIP-LOC
Subjects: Dural angioleiomyoma, GJA4, DNA methylation profile, Neurology. Diseases of the nervous system, RC346-429
Abstract: Abstract The International Society for the Study of Vascular Anomalies (ISSVA) has defined four vascular lesions in the central nervous system (CNS): arteriovenous malformations, cavernous angiomas (also known as cerebral cavernous malformations), venous malformations, and telangiectasias. From a retrospective central radiological and histopathological review of 202 CNS vascular lesions, we identified three cases of unclassified vascular lesions. Interestingly, they shared the same radiological and histopathological features evoking the cavernous subtype of angioleiomyomas described in the soft tissue. We grouped them together with four additional similar cases from our clinicopathological network and performed combined molecular analyses. In addition, cases were compared with a cohort of 5 soft tissue angioleiomyomas. Three out 6 CNS lesions presented the same p.Gly41Cys GJA4 mutation recently reported in hepatic hemangiomas and cutaneous venous malformations and found in 4/5 soft tissue angioleiomyomas of our cohort with available data. Most DNA methylation profiles were not classifiable using the CNS brain tumor (version 12.5), and sarcoma (version 12.2) classifiers. However, using unsupervised t-SNE analysis and hierarchical clustering analysis, 5 of the 6 lesions grouped together and formed a distinct epigenetic group, separated from the clusters of soft tissue angioleiomyomas, other vascular tumors, inflammatory myofibroblastic tumors and meningiomas. Our extensive literature review identified several cases similar to these lesions, with a wide variety of denominations. Based on radiological and histomolecular findings, we suggest the new terminology of “dural angioleiomyomas” (DALM) to designate these lesions characterized by a distinct DNA methylation pattern and frequent GJA4 mutations.
Published: 2022
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3. A recurrent point mutation in PRKCA is a hallmark of chordoid gliomas

Author: Shai Rosenberg, Iva Simeonova, Franck Bielle, Maite Verreault, Bertille Bance, Isabelle Le Roux, Mailys Daniau, Arun Nadaradjane, Vincent Gleize, Sophie Paris, Yannick Marie, Marine Giry, Marc Polivka, Dominique Figarella-Branger, Marie-Hélène Aubriot-Lorton, Chiara Villa, Alexandre Vasiljevic, Emmanuèle Lechapt-Zalcman, Michel Kalamarides, Ariane Sharif, Karima Mokhtari, Stefano Maria Pagnotta, Antonio Iavarone, Anna Lasorella, Emmanuelle Huillard, and Marc Sanson
Subjects: Science
Abstract: Chordoid glioma is a slow growing diencephalic tumor whose mutational landscape is poorly characterized. Here, the authors perform whole-exome and RNA-sequencing and find that 15 of 16 chordoid glioma cases studied harbor the same PRKCA mutation which results in enhanced proliferation.
Published: 2018
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4. Cerebral Amyloid Angiopathy Related Inflammation With Prominent Meningeal Involvement. A Report of 2 Cases

Author: Agnès Aghetti, Damien Sène, Marc Polivka, Natalia Shor, Sarah Lechtman, Hugues Chabriat, Eric Jouvent, and Stéphanie Guey
Subjects: cerebral amyloid angiopathy (CAA), cerebral amyloid angiopathy-related inflammation (CAA-RI), xanthochromia, subarachnoid hemorrhage, meningeal inflammation, Neurology. Diseases of the nervous system, RC346-429
Abstract: Cerebral amyloid angiopathy related inflammation (CAA-RI) is a rare form of CAA characterized by subacute encephalitic symptoms (cognitive decline, seizures, focal deficits) associated with extensive and confluent white matter lesions co-localizing with lobar microbleeds on brain MRI. We report two cases of unusual CAA-RI mimicking meningoencephalitis but without typical brain lesions on FLAIR and T2* sequences. These 2 cases may extend the clinical spectrum of CAA-RI by suggesting the possible occurrence of quite purely meningeal forms of CAA-RI.
Published: 2019
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5. Bifocal germinoma of the septum pellucidum and the sellar-supra-sellar region: An uncommon presentation for a rare tumor

Author: Monique Boukobza and Marc Polivka
Subjects: Neurology. Diseases of the nervous system, RC346-429
Abstract: Intracranial germinomas (IGs) are rare malignant germ cell tumors. The septum pellucidum (SP) is an extremely rare site of IGs. To our knowledge we report the first patient presenting with synchronous involvement of the SP and the sellar region. A 28-year-old woman presented with unsteady gait, mild left motor deficit, polydipsia and polyuria of 2-month duration. Imaging revealed a multicystic butterfly lesion in the SP extending to the frontal lobes, with unusual CT and MRI features, associated with a sellar area lesion. A navigation-guided biopsy revealed a pure germinoma. MRI at 12 months after the completion of the radiation therapy showed the resolution of the lesions. She achieved complete remission at 8-year follow-up. IG arising in the SP is rare but should be considered in the differential diagnosis, especially in young adult and particularly in male, presenting with multi-cystic lesion. The presence of a synchronous mass is a clue for the presumptive diagnosis of germinoma. These findings suggest that IG in SP may present as a large tumor with large cysts and may look as central neurocytoma. ADC value is helpful to differentiate them. Keywords: Germ cell tumors, Septum pellucidum, Suprasellar, Intracranial germinomas, Bifocal germinomas
Published: 2019
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6. IDH-Mutation Is a Weak Predictor of Long-Term Survival in Glioblastoma Patients.

Author: Aymeric Amelot, Patricia De Cremoux, Véronique Quillien, Marc Polivka, Homa Adle-Biassette, Jacqueline Lehmann-Che, Laurence Françoise, Antoine F Carpentier, Bernard George, Emmanuel Mandonnet, and Sébastien Froelich
Subjects: Medicine, Science
Abstract: A very small proportion of patients diagnosed with glioblastoma (GBM) survive more than 3 years. Isocitrate dehydrogenase 1 or 2 (IDH1/2) mutations define a small subgroup of GBM patients with favourable prognosis. However, it remains controversial whether long-term survivors (LTS) are found among those IDH1/2 mutated patients.We retrospectively analyzed 207 GBM patients followed at Lariboisière Hospital (Paris) between 2005 and 2010. Clinical parameters were obtained from medical records. Mutations of IDH1/2 were analyzed in these patients, by immunohistochemistry for the R132H mutation of IDH1 and by high-resolution melting-curve analysis, followed by Sanger sequencing for IDH1 and IDH2 exon 4 mutations. Mutation rates in LTS and non-LTS groups were compared by Chi square Pearson test.Seventeen patients with survival >3 years were identified (8.2% of the total series). The median overall survival in long-term survivors was 4.6 years. Subgroup analysis found that the median age at diagnosis was significantly higher for non long-term survivors (non-LTS) compared to LTS (60 versus 51 years, p
Published: 2015
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7. A bi-allelic loss-of-function SARS1 variant in children with neurodevelopmental delay, deafness, cardiomyopathy, and decompensation during fever

Author: Jean-Marie Ravel, Jean-Louis Guéant, Natacha Dreumont, Marc Polivka, Jean-Baptiste Rivière, Frédéric Tran Mau-Them, Julien Thevenon, David Coelho, Gajja S. Salomons, Desirée E.C. Smith, Pauline Mosca, Emmanuelle Schmitt, Laurence Faivre, Gautam Kok, Marisa I. Mendes, Christel Thauvin-Robinet, Sabine A. Fuchs, Paul Kuentz, Arnaud Wiedemann, François Feillet, Clinical chemistry, AGEM - Endocrinology, metabolism and nutrition, AGEM - Inborn errors of metabolism, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam Reproduction & Development (AR&D), Laboratory Genetic Metabolic Diseases, and Amsterdam Neuroscience
Subjects: Ataxia, brain, Cardiomyopathy, SARS1, Loss of Heterozygosity, Biology, Amino Acyl-tRNA Synthetases, chemistry.chemical_compound, deafness, death, Genetics, medicine, Protein biosynthesis, Missense mutation, Humans, Decompensation, aminoacyl-tRNA synthetase, Child, tRNA, Genetics (clinical), aminoacylation, Aminoacyl tRNA synthetase, medicine.disease, Elongation factor, chemistry, intellectual disability, Transfer RNA, medicine.symptom, Cardiomyopathies
Abstract: Aminoacyl-tRNA synthetases (aaRS) are ubiquitously expressed enzymes responsible for ligating amino acids to their cognate tRNA molecules through an aminoacylation reaction. The resulting aminoacyl-tRNA is delivered to ribosome elongation factors to participate in protein synthesis. Seryl-tRNA synthetase (SARS1) is one of the cytosolic aaRSs and catalyzes serine attachment to tRNASer . SARS1 deficiency has already been associated with moderate intellectual disability, ataxia, muscle weakness, and seizure in one family. We describe here a new clinical presentation including developmental delay, central deafness, cardiomyopathy, and metabolic decompensation during fever leading to death, in a consanguineous Turkish family, with biallelic variants (c.638G>T, p.(Arg213Leu)) in SARS1. This missense variant was shown to lead to protein instability, resulting in reduced protein level and enzymatic activity. Our results describe a new clinical entity and expand the clinical and mutational spectrum of SARS1 and aaRS deficiencies.
Published: 2021

8. Dramatic In Vivo Efficacy of the EZH2-Inhibitor Tazemetostat in PBRM1-Mutated Human Chordoma Xenograft

Author: Thibault Passeri, Ahmed Dahmani, Julien Masliah-Planchon, Adnan Naguez, Marine Michou, Rania El Botty, Sophie Vacher, Rachida Bouarich, André Nicolas, Marc Polivka, Coralie Franck, Anne Schnitzler, Fariba Némati, Sergio Roman-Roman, Franck Bourdeaut, Homa Adle-Biassette, Hamid Mammar, Sébastien Froelich, Ivan Bièche, and Didier Decaudin
Subjects: Cancer Research, Oncology, chordoma, patient-derived xenografts, next-generation sequencing, EZH2 inhibitor, targeted therapy
Abstract: Chordomas are rare neoplasms characterized by a high recurrence rate and a poor long-term prognosis. Considering their chemo-/radio-resistance, alternative treatment strategies are strongly required, but their development is limited by the paucity of relevant preclinical models. Mutations affecting genes of the SWI/SNF complexes are frequently found in chordomas, suggesting a potential therapeutic effect of epigenetic regulators in this pathology. Twelve PDX models were established and characterized on histological and biomolecular features. Patients whose tumors were able to grow into mice had a statistically significant lower progression-free survival than those whose tumors did not grow after in vivo transplantation (p = 0.007). All PDXs maintained the same histopathological features as patients’ tumors. Homozygous deletions of CDKN2A/2B (58.3%) and PBRM1 (25%) variants were the most common genomic alterations found. In the tazemetostat treated PDX model harboring a PBRM1 variant, an overall survival of 100% was observed. Our panel of chordoma PDXs represents a useful preclinical tool for both pharmacologic and biological assessments. The first demonstration of a high antitumor activity of tazemetostat in a PDX model harboring a PBRM1 variant supports further evaluation for EZH2-inhibitors in this subgroup of chordomas.
Published: 2022
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9. High-grade gliomas in adolescents and young adults highlight histomolecular differences from their adult and pediatric counterparts

Author: Arnault Tauziède-Espariat, Karima Mokhtari, Steven Knafo, Emmanuel Mandonnet, Pascale Varlet, Fabrice Chrétien, Marc Polivka, Clovis Adam, Johan Pallud, Marie-Anne Debily, Albane Gareton, Dominique Figarella-Branger, Thierry Faillot, Raphaël Saffroy, Marc Sanson, Alexandre Roux, Stéphanie Puget, Mathilde Desplanques, Frédéric Dhermain, Jacques Grill, François Doz, Franck Bourdeaut, Aurélie Dauta, Myriam Edjlali-Goujon, Nathalie Boddaert, Mélanie Pagès, Dominique Cazals-Hatem, Georges Dorfmüller, Institut de neurophysiopathologie (INP), Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Laboratoire d'Anatomie Pathologique-Neuropathologique [AP-HM Hôpital La Timone], and Hôpital de la Timone [CHU - APHM] (TIMONE)
Subjects: Oncology, Cancer Research, medicine.medical_specialty, [SDV]Life Sciences [q-bio], World health, whole exome sequencing, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Glioma, glioma, medicine, Young adult, 10. No inequality, Exome sequencing, business.industry, glioblastoma, Retrospective cohort study, medicine.disease, humanities, 3. Good health, Isocitrate dehydrogenase, 030220 oncology & carcinogenesis, Immunohistochemistry, DNA-methylation analysis, Neurology (clinical), Oligodendroglioma, business, 030217 neurology & neurosurgery, integrated diagnosis
Abstract: Background Considering that pediatric high-grade gliomas (HGGs) are biologically distinct from their adult counterparts, the objective of this study was to define the landscape of HGGs in adolescents and young adults (AYAs). Methods We performed a multicentric retrospective study of 112 AYAs from adult and pediatric Ile-de-France neurosurgical units, treated between 1998 and 2013 to analyze their clinicoradiological and histomolecular profiles. The inclusion criteria were age between 15 and 25 years, histopathological HGG diagnosis, available clinical data, and preoperative and follow-up MRI. MRI and tumoral samples were centrally reviewed. Immunohistochemistry and complementary molecular techniques such as targeted/next-generation sequencing, whole exome sequencing, and DNA-methylation analyses were performed to achieve an integrated diagnosis according to the 2016 World Health Organization (WHO) classification. Results Based on 80 documented AYA patients, HGGs constitute heterogeneous clinicopathological and molecular groups, with a predominant representation of pediatric subtypes (histone H3-mutants, 40%) but also adult subtypes (isocitrate dehydrogenase [IDH] mutants, 28%) characterized by the rarity of oligodendrogliomas, IDH mutants, and 1p/19q codeletion and the relative high frequency of “rare adult IDH mutations” (20%). H3G34-mutants (14%) represent the most specific subgroup in AYAs. In the H3K27-mutant subgroup, non-brainstem diffuse midline gliomas are more frequent (66.7%) than diffuse intrinsic pontine gliomas (23.8%), contrary to what is observed in children. We found that WHO grade has no prognostic value, but molecular subgrouping has major prognostic importance. Conclusions HGGs in AYAs could benefit from a specific classification, driven by molecular subtyping rather than age group. Collaborative efforts are needed from pediatric and adult neuro-oncology teams to improve the management of HGGs in AYAs.
Published: 2020

10. Female gender and exogenous progesterone exposition as risk factors for spheno-orbital meningiomas

Author: Caroline Le Guerinel, Marc Polivka, Dorian Chauvet, P. Roblot, Caroline Apra, Abdu Alkhayri, Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Institut de Santé Publique, d'Epidémiologie et de Développement (ISPED), Université Bordeaux Segalen - Bordeaux 2, Fondation Ophtalmologique Adolphe de Rotschild, CHU Henri Mondor, Hôpital Lariboisière-Fernand-Widal [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Gestionnaire, HAL Sorbonne Université 5, Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)
Subjects: Male, Nomegestrol acetate, Cancer Research, sphenoorbital meningioma, Physiology, cyproterone acetate, osteomeningioma, chemistry.chemical_compound, 0302 clinical medicine, Risk Factors, Meningeal Neoplasms, Orbital Diseases, Progesterone, Aged, 80 and over, Cyproterone acetate, Middle Aged, Prognosis, progestin, 3. Good health, Menopause, Neurology, Oncology, 030220 oncology & carcinogenesis, Hormonal therapy, Female, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Meningioma, Chlormadinone, medicine.drug, Adult, medicine.drug_class, Skull Neoplasms, 03 medical and health sciences, Sex Factors, Sphenoid Bone, medicine, Humans, [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Etonogestrel, Aged, Retrospective Studies, business.industry, medicine.disease, skull base meningioma, Discontinuation, nomegestrol acetate, chemistry, Neurology (clinical), Progestins, business, Progestin, 030217 neurology & neurosurgery, Follow-Up Studies
Abstract: International audience; ObjectiveThe great heterogeneity of meningiomas is challenging and we need to distinguish relevant subgroups. Spheno-orbital osteomeningiomas (SOOM) constitute a clinically specific entity, with slow-growing benign osteo-meningiomatous tumors, which recur after surgery in one fourth of cases. Neurosurgical daily practice, supported by the literature, shows that the vast majority of patients with SOOM are women, and we explored whether their epidemiological and hormonal profiles suggest a progesterone influence.MethodsWe retrospectively documented all radiologically and histologically confirmed cases of SOOM operated in 2005–2019 in our institution. We completed the clinical and hormone history by systematic telephone interviews.ResultsIn the literature, SOOM occur significantly more often in women than other meningiomas (749/847, 86.4% versus 73.8%, p = 0.002). Among 175 cases, we included 124 patients, 93.5% were women, younger than men (51 ± 5 versus 63 ± 8, p = 0.02). Women’ meningiomas showed more progesterone receptors (96.4% versus 50%, p
Published: 2020

11. Medulloblastomas associated with an APC germline pathogenic variant share the good prognosis of CTNNB1-mutated medulloblastomas

Author: Marie-Bernadette Delisle, Anne-Isabelle Bertozzi-Salomon, Marc Polivka, Hélène Zattara, Aurore Surun, Laurence Brugières, Fabienne Prieur, Franck Bourdeaut, Alexandre Vasiljevic, Pierre Leblond, Pascale Varlet, Nicolas André, Françoise Desseigne, Dominique Figarella-Branger, Eric Sariban, Rosine Guimbaud, Christelle Dufour, Cécile Faure-Conter, Claire Alapetite, Florence Coulet, Léa Guerrini-Rousseau, Chrystelle Colas, François Doz, Sandra Raimbault, Claude-Alain Maurage, Brigitte Lacour, Claire Berger, Institut de neurophysiopathologie (INP), Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Laboratoire d'Anatomie Pathologique-Neuropathologique [AP-HM Hôpital La Timone], and Hôpital de la Timone [CHU - APHM] (TIMONE)
Subjects: Adult, Male, Cancer Research, Adolescent, Adenomatous polyposis coli, [SDV]Life Sciences [q-bio], Adenomatous Polyposis Coli Protein, Context (language use), medulloblastoma, Germline, Thyroid carcinoma, WNT, 03 medical and health sciences, 0302 clinical medicine, Gardner Syndrome, Medicine, Humans, Cerebellar Neoplasms, Child, Gardner syndrome, Osteoma, neoplasms, Germ-Line Mutation, beta Catenin, 030304 developmental biology, Retrospective Studies, Medulloblastoma, 0303 health sciences, biology, business.industry, Wnt signaling pathway, Editorials, medicine.disease, familial adenomatosis polyposis, 3. Good health, nervous system diseases, APC, stomatognathic diseases, Oncology, Adenomatous Polyposis Coli, 030220 oncology & carcinogenesis, Cancer research, biology.protein, Female, Neurology (clinical), business
Abstract: Background Medulloblastomas may occur in a predisposition context, including familial adenomatosis polyposis. Medulloblastomas related to a germline pathogenic variant of adenomatous polyposis coli (APC) remain rare and poorly described. Their similarities with sporadic WNT medulloblastomas still require description. Methods We performed a multicentric retrospective review of 12 patients treated between 1988 and 2018 for medulloblastoma with an identified or highly suspected (personal or familial history) APC germline pathogenic variant. We report personal and familial history APC gene pathogenic variants whenever available: clinical and histologic characteristics of the medulloblastoma, treatments, and long-term outcome, including second tumor and late sequelae. Results Medulloblastomas associated with APC pathogenic variants are mainly classic (11/11 patients, 1 not available), nonmetastatic (10/12 patients) medulloblastomas, with nuclear immunoreactivity for ß-catenin (9/9 tested cases). Ten of 11 assessable patients are disease free with a median follow-up of 10.7 years (range, 1–28 y). Secondary tumors included desmoid tumors in 7 patients (9 tumors), 1 thyroid carcinoma, 2 pilomatricomas, 1 osteoma, 1 vertebral hemangioma, and 1 malignant triton in the radiation field, which caused the only cancer-related death in our series. Conclusions Medulloblastomas associated with an APC pathogenic variant have an overall favorable outcome, even for metastatic tumors. Yet, long-term survival is clouded by second tumor occurrence; treatment may play some role in some of these second malignancies. Our findings raise the question of applying a de-escalation therapeutic protocol to treat patients with APC germline pathogenic variants given the excellent outcome, and reduced intensity of craniospinal irradiation may be further evaluated.
Published: 2020

12. HGG-11. HIGH-GRADE GLIOMAS IN ADOLESCENTS AND YOUNG ADULTS HIGHLIGHT HISTOMOLECULAR DIFFERENCES WITH THEIR ADULT AND PAEDIATRIC COUNTERPARTS

Author: Dominique Figarella-Branger, Mélanie Pagès, Albane Gareton, Alexandre Roux, Raphaël Saffroy, Marc Sanson, Johan Pallud, Stéphanie Puget, Fabrice Chrétien, Dominique Cazals-Hatem, Frédéric Dhermain, Clovis Adam, Karima Mokhtari, Jacques Grill, Arnault Tauziède-Espariat, Georges Dorfmüller, Nathalie Boddaert, François Doz, Marie-Anne Debily, Marc Polivka, Franck Bourdeaut, Thierry Faillot, Pascale Varlet, Mathilde Desplanques, Aurélie Dauta, Myriam Edjlali-Goujon, Steven Knafo, and Emmanuel Mandonnet
Subjects: Cancer Research, Pediatrics, medicine.medical_specialty, Oncology, business.industry, medicine, AcademicSubjects/MED00300, AcademicSubjects/MED00310, Neurology (clinical), Young adult, business, High Grade Glioma, humanities
Abstract: BACKGROUND Considering that paediatric high-grade gliomas (HGGs) are biologically distinct from their adult counterparts, the objective of this study was to define the landscape of HGGs in adolescents and young adults (AYAs). METHODS We performed a multicentric retrospective study of 112 AYAs from adult and paediatric Ile-de-France neurosurgical units, treated between 1998 and 2013 to analyse their clinicoradiological and histomolecular profiles. The inclusion criteria were age between 15 and 25-years, histopathological HGG diagnosis, available clinical data, pre-operative and follow-up MRI. MRI and tumoral samples were centrally reviewed. Immunohistochemistry and complementary molecular techniques such as targeted/next generation sequencing, whole exome sequencing and DNA-methylation analyses were performed to achieve an integrated diagnosis according to the 2016 WHO classification. RESULTS Based on 80 documented AYA patients, HGGs constitute heterogeneous clinicopathological and molecular groups, with a predominant representation of paediatric-subtypes (Histone H3-mutants, 40%) but also adult-subtypes (IDH-mutants, 28%) characterized by the rarity of oligodendrogliomas, IDH-mutant and 1p/19q co-deleted and the relative high frequency of “rare adult IDH mutations” (20%). H3G34-mutants (14%) represent the most specific subgroup in AYAs. In the H3K27-mutant subgroup, the non-brainstem diffuse midline gliomas are more frequent (66.7%) than diffuse intrinsic pontine gliomas (23.8%), contrary to children. We found that WHO grade has no prognostic value, but molecular subgrouping has major prognostic importance. CONCLUSIONS HGGs in AYAs could benefit from a more personalized neuro-oncological management, driven by molecular subtyping rather than age group. Collaborative efforts are needed from paediatric and adult neuro-oncology teams to improve the management of HGGs in AYAs.
Published: 2020

13. Locally aggressive monostotic fibrous dysplasia of the cervical spine mimicking malignancy: a case report and literature review

Author: Audrey Milon, Guillaume Lot, Frédérique Larousserie, Marc Polivka, Jean-Denis Laredo, and Jean-Marc Ziza
Subjects: Aggressive, medicine.medical_specialty, medicine.medical_treatment, Radiography, Review Article, Bone grafting, Malignancy, Monostotic fibrous dysplasia, 030218 nuclear medicine & medical imaging, 03 medical and health sciences, 0302 clinical medicine, lcsh:Orthopedic surgery, Cervical spine, Medicine, Orthopedics and Sports Medicine, Pathological, Neck pain, business.industry, Fibrous dysplasia, Pathological fracture, medicine.disease, Spine, lcsh:RD701-811, Radiological weapon, Surgery, Radiology, medicine.symptom, business, 030217 neurology & neurosurgery
Abstract: We report the case of a 30-year-old woman with histologically proven monostotic fibrous dysplasia of C2 revealed by a pathological fracture of the odontoid process. Radiological investigations showed a ground-glass mineralization of the vertebral body, a centimetric lytic area with poorly defined margins involving the inferior part of the vertebral body and inferior endplate and a fracture through an osteolytic area in the base of the odontoid process. Owing to the vertebral instability, a surgical procedure combining C0–C5 fixation and posterior bone grafting was performed. The surgical biopsy was inconclusive and pathological confirmation was finally obtained through a percutaneous needle biopsy under fluoroscopic guidance. At 26-month follow-up, the patient still experienced mild persistent cervical posterior neck pain and stiffness possibly related to a C5–6 laxity below the intervertebral fixation. This case combines three radiological findings, which are unusual in fibrous dysplasia: monostotic presentation involving the spine, some aggressive radiographic features, and a pathological fracture.
Published: 2019

14. Identification of novel recurrent ETV6-IgH fusions in primary central nervous system lymphoma

Author: Dominique Figarella-Branger, Franck Bielle, Clovis Adam, Louis Royer-Perron, Guillaume Gauchotte, David Meyronet, Aurélie Bruno, Chiara Villa, Amithys Rahimian, Blandine Boisselier, Carole Soussain, Fabrice Chrétien, Khê Hoang-Xuan, Caroline Houillier, Sandrine Eimer, Mailys Daniau, Frederic Davi, Karima Mokhtari, Karim Labreche, Justine Guegan, Pierre de la Grange, Agusti Alentorn, Marc Polivka, Audrey Rousseau, Frédéric Lemoine, Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), OncoNeuroTek [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], GenoSplice, Ltd, GenoSplice technology, GenoSplice [Paris], iCONICS, Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hôpital Lariboisière-Fernand-Widal [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service d’Anatomopathologie [Le Kremlin-Bicêtre], AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), Hospices civils de Lyon, hôpital neurologique Pierre-Wertheimer, Laboratoire d'Anatomie Pathologique-Neuropathologique [AP-HM Hôpital La Timone], Hôpital de la Timone [CHU - APHM] (TIMONE), Service de Pathologie [Hôpital Foch], Hôpital Foch [Suresnes], Centre Hospitalier Sainte Anne [Paris], Centre Hospitalier Universitaire de Bordeaux (CHU de Bordeaux), Département de Pathologie Cellulaire et Tissulaire [CHU Angers] (Laboratoire d’Histopathologie-Cytopathologie), Université d'Angers (UA)-Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), Hôpital René HUGUENIN (Saint-Cloud), This work is part of the national program Cartes d’Identité des Tumeurs (CIT) funded and developed by the Ligue nationale contre le cancer, the Institut National du Cancer, Association pour la recherche sur les tumeurs cérébrales (ARTC), Cancéropôle Île-de-France 'Emergence 2015-1' (2015-1-EMERG-05-INSERM 6-1), Ligue nationale contre le cancer (Comité du Val d’Oise, R14044DD), Ligue Nationale contre le cancer 'Recherche épidemiologique' (N° PRE2015.LNCC), Fondation pour la Recherche Médicale (FDT20140930968), and the program 'Investissements d’avenir' ANR-10-IAIHU-06, and the Institut National du Cancer (INCa) (Réseau Expert National LOC, Lymphomes Oculo-Cérébraux). This study was supported by the Lymphomes Oculo-Cérébraux (LOC) study group network (Réseau national de centres experts des lymphomes primitifs du système nerveux central), We would like to thank the French LOC Network investigators. Specimens from Marseille were retrieved from the AP-HM tumor bank AC 2013-1786, ANR-10-IAHU-0006,IHU-A-ICM,Institut de Neurosciences Translationnelles de Paris(2010), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Incubateur et Pépinière d'Entreprises Paris-Salpêtrière (iPEPS-ICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service d'Hématologie clinique [CHU Pitié-Salpêtrière], Service de Neurologie [CHU Pitié-Salpêtrière], IFR70-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de neurologie 1 [CHU Pitié-Salpétrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)
Subjects: 0301 basic medicine, Male, Cancer Research, Oncogene Proteins, Fusion, MESH: Central Nervous System Neoplasms, Fusion gene, Central Nervous System Neoplasms, 0302 clinical medicine, hemic and lymphatic diseases, MESH: Middle Aged, medicine.diagnostic_test, Primary central nervous system lymphoma, RNA sequencing, ETV6-IgH, MESH: Follow-Up Studies, Middle Aged, Prognosis, [SDV.BIBS]Life Sciences [q-bio]/Quantitative Methods [q-bio.QM], 3. Good health, Survival Rate, Oncology, fusion gene, MESH: Repressor Proteins, 030220 oncology & carcinogenesis, Basic and Translational Investigations, Female, Lymphoma, Large B-Cell, Diffuse, MESH: Biomarkers, Tumor, Haploinsufficiency, Immunoglobulin Heavy Chains, MESH: Immunoglobulin Heavy Chains, MESH: Proto-Oncogene Proteins c-ets, MESH: Survival Rate, [SDV.CAN]Life Sciences [q-bio]/Cancer, Biology, MESH: Prognosis, 03 medical and health sciences, primary CNS lymphoma, medicine, Biomarkers, Tumor, Humans, Survival rate, MESH: Humans, Proto-Oncogene Proteins c-ets, medicine.disease, MESH: Male, Lymphoma, haploinsufficiency, Repressor Proteins, ETV6, 030104 developmental biology, Cancer research, Immunoglobulin heavy chain, MESH: Lymphoma, Large B-Cell, Diffuse, Neurology (clinical), MESH: Female, Fluorescence in situ hybridization, Follow-Up Studies, MESH: Oncogene Proteins, Fusion
Abstract: International audience; Background: Primary central nervous system lymphoma (PCNSL) represents a particular entity within non-Hodgkin lymphomas and is associated with poor outcome. The present study addresses the potential clinical relevance of chimeric transcripts in PCNSL discovered by using RNA sequencing (RNA-seq).Methods: Seventy-two immunocompetent and newly diagnosed PCNSL cases were included in the present study. Among them, 6 were analyzed by RNA-seq to detect new potential fusion transcripts. We confirmed the results in the remaining 66 PCNSL. The gene fusion was validated by fluorescence in situ hybridization (FISH) using formalin-fixed paraffin-embedded (FFPE) samples. We assessed the biological and clinical impact of one new gene fusion.Results: We identified a novel recurrent gene fusion, E26 transformation-specific translocation variant 6-immunoglobulin heavy chain (ETV6-IgH). Overall, ETV6-IgH was found in 13 out of 72 PCNSL (18%). No fusion conserved an intact functional domain of ETV6, and ETV6 was significantly underexpressed at gene level, suggesting an ETV6 haploinsufficiency mechanism. The presence of the gene fusion was also validated by FISH in FFPE samples. Finally, PCNSL samples harboring ETV6-IgH showed a better prognosis in multivariate analysis, P = 0.03, hazard ratio = 0.33, 95% CI = 0.12-0.88. The overall survival at 5 years was 69% for PCNSL harboring ETV6-IgH versus 29% for samples without this gene fusion.Conclusions: ETV6-IgH is a new potential surrogate marker of PCNSL with favorable prognosis with ETV6 haploinsufficiency as a possible mechanism. The potential clinical impact of ETV6-IgH should be validated in larger prospective studies.
Published: 2018

15. Aneurysmal bone cyst of the frontal bone - A radiologic-pathologic correlation

Author: Jean-Pierre Guichard, Anne-Laure Hermann, ValÃ©rie Bousson, Marc Polivka, and Marie-Pierre Loit
Subjects: Adult, medicine.medical_specialty, Computed tomography, Diagnosis, Differential, 03 medical and health sciences, 0302 clinical medicine, Positron Emission Tomography Computed Tomography, medicine, Humans, Radiology, Nuclear Medicine and imaging, Frozen section procedure, medicine.diagnostic_test, business.industry, Headache, Rare entity, Radiologic pathologic correlation, Aneurysmal bone cyst, Prognosis, medicine.disease, Hyperintensity, Bone Cysts, Aneurysmal, Skull, Diffusion Magnetic Resonance Imaging, Frontal bone, medicine.anatomical_structure, Musculoskeletal Radiology, 030220 oncology & carcinogenesis, Frontal Bone, Female, Radiology, Tomography, X-Ray Computed, business, 030217 neurology & neurosurgery
Abstract: We present a case of 27-year-old female who presented for a progressive frontal swelling with ipsilateral headache. Subsequent CT scan revealed an extradural and expansile multiloculated mass with thin and strongly enhanced septations and MRI evaluation showed internal hyperintensity on T2 with no restriction of diffusion and confirmed the multiple cystic spaces with enhancing septations and rare hemorrhagic fluid-fluid levels. Surgery was performed and diagnosis of aneurysmal bone cyst was made on frozen section. Identification of USP6 fusion gene by in situ hybridization technique permitted to confirm the diagnosis of primary ABC. Although aneurysmal bone cyst (ABC) of the skull is a very rare entity and accounts for 2-6% of all ABCs, we should think about it in front of osteolytic and cystic skull changes even with very few fluid-fluid levels. Following description of our case and differential diagnoses, we conduct a literature review of skull ABCs imaging characteristics and discuss the interest of USP6 rearrangement identification.
Published: 2018

16. FGFR1 actionable mutations, molecular specificities, and outcome of adult midline gliomas

Author: Jean-Yves Delattre, Marc Sanson, Anna Luisa Di Stefano, Marc Polivka, Elena Trisolini, Khê Hoang-Xuan, Giulia Berzero, Karima Mokhtari, Julien Savatovsky, Alberto Picca, Sheida Meunier, Yohann Schmitt, Mehdi Touat, Ahmed Idbaih, Franck Bielle, Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Sorbonne Université (SU), Sorbonne Université - Faculté de Médecine (SU FM), University of Pavia, Fondation Ophtalmologique Adolphe de Rothschild [Paris], Service de neurologie 2 [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Laboratoire de Neuropathologie Raymond Escourolle, CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hôpital Lariboisière, Université Paris Diderot - Paris 7 (UPD7)-Hôpital Lariboisière-Fernand-Widal [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hôpital Foch [Suresnes], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Université Pierre et Marie Curie - Paris 6 (UPMC), Service de pathologie, Hôpital Lariboisière-Fernand-Widal [APHP], Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-CHU Pitié-Salpêtrière [AP-HP], Picca, A., Berzero, G., Bielle, F., Touat, M., Savatovsky, J., Polivka, M., Trisolini, E., Meunier, S., Schmitt, Y., Idbaih, A., Hoang-Xuan, K., Delattre, J. -Y., Mokhtari, K., Di Stefano, A. L., Sanson, M., Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [APHP]-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Pitié-Salpêtrière [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Pitié-Salpêtrière [APHP]-Sorbonne Université (SU), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Lariboisière-Université Paris Diderot - Paris 7 (UPD7), Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Pitié-Salpêtrière [APHP], AP-HP Hôpital Lariboisière [Paris], and Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [APHP]-Centre National de la Recherche Scientifique (CNRS)
Subjects: Oncology, medicine.medical_specialty, IDH1, business.industry, EGFR Amplification, Fibroblast growth factor receptor 1, [SDV]Life Sciences [q-bio], Retrospective cohort study, Disease, 03 medical and health sciences, 0302 clinical medicine, CDKN2A, 030220 oncology & carcinogenesis, Internal medicine, DNA methylation, Medicine, Neurology (clinical), Young adult, business, 030217 neurology & neurosurgery
Abstract: ObjectiveTo characterize the prevalence and prognostic significance of major driver molecular alterations in adult midline diffuse gliomas (MLG).MethodsAdults with histologically proven MLG diagnosed between 1996 and 2017 were identified from our tumor bank, systematically reviewed, and reclassified according to WHO 2016. Targeted sequencing was performed, including determination ofH3F3A,HIST1H3B,TERTp,IDH1/2,FGFR1,p16/CDKN2A, andEGFRstatus.ResultsA total of 116 adult patients (M/F 71/45, median age 46.5 years) with MLG (17 cerebellar, 8 spinal, 30 brainstem, 57 thalamic, and 4 diencephalic nonthalamic) were identified. Most patients had high-grade disease at presentation (grade II: 11%, grade III: 15%, grade IV: 75%). Median overall survival was 17.3 months (14.5–23.8 months). Main molecular alterations observed wereTERTpromoter,H3F3A, and hotspotFGFR1(N546 and K656) mutations, in 37%, 34%, and 18% of patients, respectively.IDH1mutations only affected brainstem gliomas (6/24 vs 0/78;p= 7.5 × 10−5), were mostly non-R132H (contrasting with hemispheric gliomas,p= 0.0001), and were associated with longer survival (54 vs 12 months).TERTpromoter mutation (9.1 vs 24.2 months),CDKN2Adeletion (9.9 vs 23.8 months), and EGFR amplification (4.3 vs 23.8 months) were associated with shorter survival. Of interest, in contrast with pediatric MLG, H3K27M mutations were not associated with worse prognosis (23 vs 15 months).ConclusionsPatients with adult MLG present with unique clinical and molecular characteristics, differing from their pediatric counterparts. The identification of potentially actionableFGFR1mutations in a subset of adult MLG highlights the importance of comprehensive genomic analysis in this rare affection.
Published: 2018

17. MBCL-38. MEDULLOBLASTOMAS ASSOCIATED WITH APC GERMLINE MUTATION: A MULTICENTRIC FRENCH AND BELGIAN REVIEW

Author: Franck Bourdeaut, Cécile Faure-Conter, Françoise Desseigne, Eric Sariban, Alexandre Vasiljevic, Pierre Leblond, Léa Guerrini-Rousseau, Marie-Bernadette Delisle, Nicolas André, Claire Berger, Marc Polivka, Chrystelle Colas, François Doz, Anne-Isabelle Bertozzi-Salomon, Aurore Surun, Laurence Brugières, Hélène Zattara-Cannoni, Pascale Varlet, Brigitte Lacour, and Fabienne Prieur
Subjects: Medulloblastoma, Oncology, Cancer Research, medicine.medical_specialty, business.industry, Treatment outcome, medicine.disease, Chemotherapy regimen, Familial adenomatous polyposis, Thyroid carcinoma, Exon, Abstracts, Germline mutation, Internal medicine, medicine, Abdominal Neoplasms, Neurology (clinical), business
Abstract: Medulloblastoma may occur in a context of APC germline mutation and familial adenomatous polyposis. We aimed to describe clinical features of patients with medulloblastoma occurring in this context. We performed a multicentric retrospective review of French and Belgian patients treated for medulloblastoma with identified or highly suspected (personal or familial history) APC germline mutation. Genetic status, clinical and histological characteristics, treatments and outcome were reported. Eleven patients with known or suspected APC germline mutation, mostly on exon 15 (N=6/9 available data), were diagnosed with medulloblastoma at a median age of 10.6 years [6-32]. Medulloblastomas were mainly non-metastatic (N=9/11), classic (N=9/9 available data, central review ongoing), with no significant residual tumor after surgery (N=9/11). All patients underwent radiotherapy (median craniospinal dose: 35 Gy), combined with chemotherapy for 10 patients. No relapse was noticed (median follow-up: 11 years). Secondary tumors (N=8) occurred in 7 patients, including 1 lethal malignant Triton tumor in the irradiation field, 1 thyroid carcinoma, and 6 desmoid tumors (5 abdominal tumors, 1 occipital tumor in the irradiation field). Pre-symptomatic polyposis was diagnosed for 9 patients at a median age of 15.5 years, prior to medulloblastoma for 2 of them. Medulloblastomas associated with APC germline mutation have favorable clinical outcome, even for metastatic tumors, with no relapse in this small series of patients, in line with WNT-medulloblastomas’ profile. Yet, long-term survival is clouded by second tumor occurrence, with potential radiation-induced tumors. These findings raise the question of applying de-escalation therapeutic protocol for these patients with reduced intensity craniospinal irradiation.
Published: 2018

18. Chromosome 17p Homodisomy Is Associated With Better Outcome in 1p19q Non-Codeleted and IDH-Mutated Gliomas

Author: Jean-Yves Delattre, Marine Giry, Ahmed Idbaih, Yohann Schmitt, Karim Labreche, Marianne Labussière, Amithys Rahimian, Karima Mokhtari, Marc Polivka, Marc Sanson, Agusti Alentorn, and Blandine Boisselier
Subjects: 0301 basic medicine, Oncology, Adult, Male, Cancer Research, medicine.medical_specialty, Pathology, Population, Single Nucleotide Polymorphism Array, Loss of Heterozygosity, Tp53 mutation, Disease-Free Survival, Loss of heterozygosity, 03 medical and health sciences, Molecular classification, Internal medicine, Cancer genome, Glioma, medicine, Biomarkers, Tumor, Humans, education, Neuro-Oncology, neoplasms, Aged, education.field_of_study, business.industry, Middle Aged, medicine.disease, Prognosis, Isocitrate Dehydrogenase, 030104 developmental biology, Isocitrate dehydrogenase, Mutation, Female, Tumor Suppressor Protein p53, business, Chromosomes, Human, Pair 17
Abstract: Background. The 1p19q non-codeleted gliomas with IDH mutation, defined as “molecular astrocytomas,” display frequent TP53 mutations and have an intermediate prognosis. We investigated the prognostic impact of copy number-neutral loss of heterozygosity (CNLOH) in 17p in this population. Methods. We analyzed 793 gliomas (206 grade II, 377 grade III, and 210 grade IV) by single nucleotide polymorphism array and for TP53 mutations. Results. Homodisomy revealed by CNLOH was observed in 156 cases (19.7%). It was more frequent in astrocytomas and oligoastrocytomas (98/256, 38%) than oligodendrogliomas (28/327, 8.6%; p < .0001) or glioblastoma multiforme (30/210, 14.3%; p < .0001), tightly associated with TP53 mutation (69/71 vs. 20/79; p = 2 × 10−16), and mutually exclusive with 1p19q codeletion (1/156 vs. 249/556; p < .0001). In the group of IDH-mutated 1p19q non-codeleted gliomas, CNLOH 17p was associated with longer survival (86.3 vs. 46.2 months; p = .004), particularly in grade III gliomas (overall survival >100 vs. 37.9 months; p = .007). These data were confirmed in an independent dataset from the Cancer Genome Atlas. Conclusion. CNLOH 17p is a prognostic marker and further refines the molecular classification of gliomas.
Published: 2016

19. Intrathecal Trastuzumab Halts Progression of CNS Metastases in Breast Cancer

Author: Gilles Paintaud, Stéphane Culine, David Ternant, Anne Janin, Emmanuel Barranger, François Darrouzain, Marc Polivka, Jean-Baptiste Thiebaut, Guilhem Bousquet, Sabine Winterman, Cédric de Bazelaire, Isabelle Madelaine-Chambin, Ratajczak, Philippe, Gvh et Gvl : Physiopathologie Chez l'Homme et Chez l'Animal, Incidence et Role Therapeutique, Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Saint-Louis, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7), Génétique, immunothérapie, chimie et cancer (GICC), UMR 7292 CNRS [2012-2017] (GICC UMR 7292 CNRS), Université de Tours (UT)-Centre National de la Recherche Scientifique (CNRS), Service de gynécologie-obstétrique [CHU Rothschild], Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Rothschild [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hôpital Avicenne [AP-HP], Hôpital Lariboisière, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Lariboisière-Fernand-Widal [APHP], Fondation Ophtalmologique Adolphe de Rothschild [Paris], Service de gynécologie-obstétrique [Hôpital Rothschild], Université Paris Diderot - Paris 7 (UPD7)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), and Université de Tours-Centre National de la Recherche Scientifique (CNRS)
Subjects: Adult, 0301 basic medicine, Oncology, Cancer Research, medicine.medical_specialty, [SDV.BIO]Life Sciences [q-bio]/Biotechnology, MEDLINE, Breast Neoplasms, [SDV.CAN]Life Sciences [q-bio]/Cancer, Intrathecal, Central Nervous System Neoplasms, 03 medical and health sciences, Antineoplastic Agents, Immunological, 0302 clinical medicine, Text mining, Breast cancer, [SDV.CAN] Life Sciences [q-bio]/Cancer, [SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, Trastuzumab, Internal medicine, medicine, Humans, Injections, Spinal, ComputingMilieux_MISCELLANEOUS, business.industry, medicine.disease, 3. Good health, [SDV.MHEP.CSC] Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, [SDV.BIO] Life Sciences [q-bio]/Biotechnology, [SDV.TOX] Life Sciences [q-bio]/Toxicology, 030104 developmental biology, 030220 oncology & carcinogenesis, [SDV.TOX]Life Sciences [q-bio]/Toxicology, Female, business, medicine.drug
Abstract: International audience; no abstract
Published: 2016

20. Prognostic and Therapeutic Markers in Chordomas: A Study of 287 Tumors

Author: Annie Laquerrière, Bernard George, Jean-Luc Prétet, Loïc Feuvret, Schahrazed Bouazza, François Labrousse, Homa Adle-Biassette, Eleonora Aronica, Séverine Valmary-Degano, Sébastien Froelich, Fabrice Projetti, Henri Salle, Marc Polivka, Marc Pocard, Marie-Hélène Aubriot-Lorton, Arnault Tauziède-Espariat, Loic Chaigneau, Franck Monnien, Philippe Herman, Nicolas Isambert, Damien Bresson, Cellular and Computational Neuroscience (SILS, FNWI), ANS - Cellular & Molecular Mechanisms, Pathology, APH - Amsterdam Public Health, Centre Hospitalier Sainte Anne [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hôpital Lariboisière-Fernand-Widal [APHP], Hôpital Lariboisière, Université Paris Diderot - Paris 7 (UPD7)-Hôpital Lariboisière-Fernand-Widal [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université de Limoges (UNILIM), Genome Analysis, Carcinogénèse épithéliale : facteurs prédictifs et pronostiques - UFC (EA 3181) (CEF2P / CARCINO), Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté [COMUE] (UBFC)-Université Bourgogne Franche-Comté [COMUE] (UBFC)-Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Service d'Anatomie Pathologique [CHU Limoges], CHU Limoges, Laboratoire de Neurobiologie des Réseaux Sensorimoteurs (LNRS), Université Paris Diderot - Paris 7 (UPD7)-Université Paris Descartes - Paris 5 (UPD5), and Service de Neurochirurgie [CHU Limoges]
Subjects: Oncology, Male, Pathology, Neoplasm, Residual, MESH: Neoplasm Grading, Apoptosis, medicine.disease_cause, Cohort Studies, chemistry.chemical_compound, 0302 clinical medicine, MESH: Child, Epidermal growth factor receptor, Child, MESH: Cohort Studies, MESH: Aged, Univariate analysis, MESH: Middle Aged, biology, MESH: Infant, Newborn, General Medicine, Middle Aged, Prognosis, MESH: Infant, Immunohistochemistry, 3. Good health, Vascular endothelial growth factor, Neurology, MESH: Young Adult, MESH: Survival Analysis, 030220 oncology & carcinogenesis, Child, Preschool, Female, MESH: Biomarkers, Tumor, KRAS, Protons, Adult, medicine.medical_specialty, Adolescent, [SDV.CAN]Life Sciences [q-bio]/Cancer, MESH: Prognosis, Disease-Free Survival, Pathology and Forensic Medicine, 03 medical and health sciences, Cellular and Molecular Neuroscience, Necrosis, Young Adult, Internal medicine, medicine, Biomarkers, Tumor, Chordoma, Humans, neoplasms, MESH: Neoplasm, Residual, PI3K/AKT/mTOR pathway, Survival analysis, Aged, Retrospective Studies, MESH: Adolescent, MESH: Necrosis, MESH: Humans, business.industry, MESH: Apoptosis, MESH: Child, Preschool, Infant, Newborn, MESH: Chordoma, Infant, MESH: Adult, MESH: Retrospective Studies, MESH: Immunohistochemistry, Retrospective cohort study, medicine.disease, Survival Analysis, MESH: Male, chemistry, MESH: Disease-Free Survival, biology.protein, MESH: Protons, Neurology (clinical), Neoplasm Grading, business, MESH: Female, 030217 neurology & neurosurgery
Abstract: International audience; Chordomas are slow-growing malignant neoplasms. Determination of histopathologic prognostic factors using a large cohort study has been limited by their low incidence. In this retrospective study, we investigated the clinical, histopathologic, and immunohistochemical prognostic factors in 287 chordomas from 111 patients assessed by central pathologic review. Expression patterns of a variety of markers, including vascular endothelial growth factor (VEGF), mTOR pathway, c-kit, HER2, epidermal growth factor receptor (EGFR) and STAT3, and KRAS, BRAF, EGFR, and PIK3CA mutations were analyzed. On univariate analysis, the results confirm surgery as the best treatment, as judged by patient progression-free survival (PFS) and overall survival (OS). Proton therapy, the presence of a dedifferentiated component, mitotic figures, and Ki67 and p53 labeling indices correlated with PFS . Necrosis and apoptosis correlated with OS. Based on these findings, we propose a histopathologic grading system that correlates with PFS and OS. On multivariate analysis, extent of resection, tumor grade, and proton therapy were independent prognostic factors of PFS; extent of resection, tumor location, and grade were independent prognostic factors of OS. Based on the expression of EGFR, pSTAT3, VEGF, and mTOR pathway proteins, (in 85.9%, 79.1%, 85.7%, and 46% of chordomas, respectively), and 2 new mutations in the PIK3CA gene, we also provide evidence for potential therapeutic targets.
Published: 2016

21. Prognostic impact of the 2016 WHO classification of diffuse gliomas in the French POLA cohort

Author: Dominique Figarella-Branger, Anh Tuan Nguyen, Hugues Loiseau, Jean-Yves Delattre, Claude-Alain Maurage, Olivier Chinot, François Ducray, Carole Colin, Ahmed Idbaih, Elisabeth Moyal, Emmanuelle Uro-Coste, Emmanuèle Lechapt-Zalcman, Caroline Dehais, Catherine Carpentier, Christine Desenclos, Emeline Tabouret, Karima Mokhtari, Anne Jouvet, David Meyronet, Marc Polivka, Neuro-Oncologie [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Centre de Recherches en Oncologie biologique et Oncopharmacologie (CRO2), Aix Marseille Université (AMU)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service d'Anatomo-Cyto-Pathologie et de NeuroPathologie [Hôpital de la Timone - APHM] (ACPNP), Aix Marseille Université (AMU)- Hôpital de la Timone [CHU - APHM] (TIMONE), CHU Pitié-Salpêtrière [APHP], Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [APHP]-Centre National de la Recherche Scientifique (CNRS), Hôpital neurologique et neurochirurgical Pierre Wertheimer [CHU - HCL], Hospices Civils de Lyon (HCL), Centre de Recherche en Cancérologie de Lyon (CRCL), Centre Léon Bérard [Lyon]-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Laboratoire de Neuropathologie Raymond Escourolle, Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Pitié-Salpêtrière [APHP], Laboratoire d'anatomie et de cytopathologie - Centre hospitalier Lyon Sud, CHU Toulouse [Toulouse], Faculté de Médecine [Rangueil], Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-CHU Toulouse [Toulouse], CHU de Bordeaux Pellegrin [Bordeaux], Institut Claudius Regaud, CRLCC Institut Claudius Regaud, Centre de Recherches en Cancérologie de Toulouse (CRCT), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université Fédérale Toulouse Midi-Pyrénées, Service de pathologie [CHU Lille], Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Service de pathologie, AP-HP Hôpital Lariboisière [Paris], Laboratoire d'Anatomie Pathologique [CHU Caen], Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Imagerie et Stratégies Thérapeutiques des pathologies Cérébrales et Tumorales (ISTCT), Normandie Université (NU)-Normandie Université (NU)-Centre National de la Recherche Scientifique (CNRS)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Service de neurochirurgie, Hôpital Nord - Amiens, CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Centre de Recherche en Cancérologie de Lyon (UNICANCER/CRCL), Laboratoire de Neuropathologie Raymond Escourolle [CHU Pitié-Salpétriêre], Université Pierre et Marie Curie - Paris 6 (UPMC)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Université de Toulouse (UT)-Université de Toulouse (UT)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université de Toulouse (UT), Hôpital Lariboisière-Fernand-Widal [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Normandie Université (NU)-Normandie Université (NU)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Centre National de la Recherche Scientifique (CNRS), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), and Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Pierre et Marie Curie - Paris 6 (UPMC)
Subjects: Oncology, Adult, Male, medicine.medical_specialty, Pathology, IDH1, Adolescent, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Oligodendroglioma, [SDV.CAN]Life Sciences [q-bio]/Cancer, 1p/19q Codeletion, Astrocytoma, World Health Organization, Disease-Free Survival, Pathology and Forensic Medicine, Cohort Studies, 03 medical and health sciences, Cellular and Molecular Neuroscience, Young Adult, 0302 clinical medicine, Internal medicine, medicine, Humans, Oligodendroglial Tumor, neoplasms, Pathological, Grading (tumors), Aged, Aged, 80 and over, business.industry, Brain Neoplasms, Glioma, Middle Aged, medicine.disease, Prognosis, 3. Good health, 030220 oncology & carcinogenesis, Cohort, Mutation, Female, Neurology (clinical), Who classification, business, 030217 neurology & neurosurgery, Anaplastic astrocytoma
Abstract: The new WHO classification of diffuse gliomas has been refined and now includes the 1p/19q codeletion, IDH1/2 mutation, and histone H3-K27M mutation. Our objective was to assess the prognostic value of the updated 2016 WHO classification in the French POLA cohort. All cases of high-grade oligodendroglial tumors sent for central pathological review and included into the French nationwide POLA cohort were reclassified according to the updated 4th WHO classification. In total, 1041 patients were included, with a median age at diagnosis of 50.4 years (range 17.1–84.4). Based on the new histomolecular classification, diagnoses included anaplastic oligodendroglioma IDH mutant and 1p/19q-codeleted (32.5 %), anaplastic astrocytoma IDH mutant (IDH mut) (11.0 %), anaplastic astrocytoma IDH wild type (IDH wt) (5.3 %), glioblastoma IDH mut (17.1 %), and glioblastoma IDH wt (33.2 %). Ten patients presented with a diffuse midline tumor, H3 K27M mutant. The new WHO classification was prognostic for progression-free survival (PFS) and overall survival (OS) (p
Published: 2016

22. Papillary glioneuronal tumors: histological and molecular characteristics and diagnostic value of SLC44A1-PRKCA fusion

Author: Ludovic Lacroix, Felipe Andreiuolo, Fabrice Chrétien, Frédéric Fina, Pascale Varlet, Arnault Tauziède-Espariat, Stéphanie Puget, Julia A. Bridge, David Castel, Emmanuèle Lechapt-Zalcman, Xiao Qiong Liu, Estelle Daudigeos-Dubus, Vita Ridola, Marc Polivka, Nathalie Boddaert, Mélanie Pagès, Jacques Grill, Sophie Gilles, Neuroimagerie en psychiatrie (U1000), Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5), Centre Hospitalier Sainte Anne [Paris], Département de biologie et pathologie médicales [Gustave Roussy], Institut Gustave Roussy (IGR), Vectorologie et thérapeutiques anti-cancéreuses [Villejuif] (UMR 8203), Université Paris-Sud - Paris 11 (UP11)-Institut Gustave Roussy (IGR)-Centre National de la Recherche Scientifique (CNRS), Département de cancérologie de l'enfant et de l'adolescent [Gustave Roussy], Hôpital Lariboisière, Imagerie et Stratégies Thérapeutiques des pathologies Cérébrales et Tumorales (ISTCT), Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Centre National de la Recherche Scientifique (CNRS), Laboratoire d'Anatomie Pathologique [CHU Caen], Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), CHU Necker - Enfants Malades [AP-HP], University of Nebraska Medical Center, University of Nebraska System, Histopathologie humaine et Modèles animaux, Institut Pasteur [Paris], Institut de psychiatrie et neurosciences (U894 / UMS 1266), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hôpital Lariboisière-Fernand-Widal [APHP], Institut Pasteur [Paris] (IP), Centre de Psychiatrie et Neurosciences (U894), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Sud - Paris 11 (UP11), Centre National de la Recherche Scientifique (CNRS)-Institut Gustave Roussy (IGR)-Université Paris-Sud - Paris 11 (UP11), CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Université de Caen Normandie (UNICAEN), Normandie Université (NU), Neuroimagerie en psychiatrie ( U1000 ), Université Paris-Sud - Paris 11 ( UP11 ) -Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université Paris Descartes - Paris 5 ( UPD5 ), Institut Gustave Roussy ( IGR ), Vectorologie et thérapeutiques anti-cancéreuses [Villejuif] ( UMR 8203 ), Université Paris-Sud - Paris 11 ( UP11 ) -Institut Gustave Roussy ( IGR ) -Centre National de la Recherche Scientifique ( CNRS ), Imagerie et Stratégies Thérapeutiques des pathologies Cérébrales et Tumorales ( ISTCT ), Université de Caen Normandie ( UNICAEN ), Normandie Université ( NU ) -Normandie Université ( NU ) -Centre National de la Recherche Scientifique ( CNRS ) -Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ), Laboratoire d'Anatomie Pathologique [Caen], Normandie Université ( NU ) -Normandie Université ( NU ) -CHU Caen, Centre de Psychiatrie et Neurosciences ( CPN - U894 ), and Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM )
Subjects: Male, Pathology, [SDV]Life Sciences [q-bio], Antigens, CD34, medicine.disease_cause, Ganglioglioma, 0302 clinical medicine, KIAA-BRAF, Child, ganglioglioma, Mutation, medicine.diagnostic_test, Brain Neoplasms, Kinase, Glioma, Magnetic Resonance Imaging, Neoplasms, Neuroepithelial, 3. Good health, angiocentric neuroepithelial tumors, SLC44A1-PRKCA, Child, Preschool, 030220 oncology & carcinogenesis, Immunohistochemistry, Female, Oncogene Fusion, Adult, medicine.medical_specialty, Protein Kinase C-alpha, Adolescent, Organic Cation Transport Proteins, MAP Kinase Signaling System, Papillary glioneuronal tumor, Nerve Tissue Proteins, BRAF, Pathology and Forensic Medicine, Young Adult, 03 medical and health sciences, Cellular and Molecular Neuroscience, Western blot, Antigens, CD, medicine, Humans, Receptor, Fibroblast Growth Factor, Type 1, rosette-forming glioneuronal tumors of the fourth ventricle, [ SDV ] Life Sciences [q-bio], business.industry, Research, medicine.disease, MAPK, FGFR1, Neurology (clinical), business, 030217 neurology & neurosurgery, Fluorescence in situ hybridization
Abstract: International audience; INTRODUCTION:Papillary Glioneuronal Tumor (PGNT) is a grade I tumor which was classified as a separate entity in the World Health Organization Classification of the Central Nervous System 2007 in the group of mixed glioneuronal tumors. This tumor is rare and subclassifying PGNT represents a challenge. Recently, a fusion between SLC44A1 and PRKCA which encodes a protein kinase C involved in MAPK signaling pathway has been described in two studies (five cases). The current study aimed at raising the cytogenetic, histological and molecular profiles of PGNT and to determine if SLC44A1-PRKCA fusion represented a specific diagnostic marker to distinguish it from other glioneuronal tumors.RESULTS:We report on four pediatric cases of PGNT, along with clinico-radiologic and immunohistological features for which SLC44A1-PRKCA fusion assessment by fluorescence in situ hybridization, BRAF V600E and FGFR1 mutation by immunohistochemistry and direct DNA sequencing and KIAA1549-BRAF fusion by RT-PCR were performed. MAPK signaling pathway activation was investigated using phospho-ERK immunohistochemistry and western blot. We analyzed fifteen cases of tumors with challenging histological or clinical differential diagnoses showing respectively a papillary architecture or periventricular location (PGNT mimics). fluorescence in situ hybridization analysis revealed a constant SLC44A1-PRKCA fusion signal in all PGNTs. None of PGNT mimics showed the SLC44A1-PRKCA fusion signal pattern. All PGNTs were negative for BRAF V600E and FGFR1 mutation, and KIAA1549-BRAF fusion. Phospho-ERK analysis provides arguments for the activation of the MAPK signaling pathway in these tumors.CONCLUSIONS:Here we confirmed and extended the molecular data on PGNT. These results suggest that PGNT belong to low grade glioma with MAPK signaling pathway deregulation. SLC44A1-PRKCA fusion seems to be a specific characteristic of PGNT with a high diagnostic value and detectable by FISH.
Published: 2015

23. IDH-Mutation Is a Weak Predictor of Long-Term Survival in Glioblastoma Patients

Author: Homa Adle-Biassette, Patricia de Cremoux, Jacqueline Lehmann-Che, Emmanuel Mandonnet, B. George, Véronique Quillien, Laurence Françoise, Antoine F. Carpentier, Sébastien Froelich, Aymeric Amelot, Marc Polivka, Hôpital Lariboisière, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Lariboisière-Fernand-Widal [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7), Hopital Saint-Louis [AP-HP] (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), CRLCC Eugène Marquis (CRLCC), Physiopathologie, conséquences fonctionnelles et neuroprotection des atteintes du cerveau en développement, Université Paris Diderot - Paris 7 (UPD7)-IFR2-Institut National de la Santé et de la Recherche Médicale (INSERM), service de neurochirurgie, Hôpital Lariboisière-Fernand-Widal [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Imagerie et Modélisation en Neurobiologie et Cancérologie (IMNC (UMR_8165)), Université Paris-Sud - Paris 11 (UP11)-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Lariboisière-Université Paris Diderot - Paris 7 (UPD7), Hôpital Saint Louis (Hôpital Saint Louis), Assistance Publique - Hôpitaux de Paris, and Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )
Subjects: Oncology, Male, Mutation rate, Pathology, Time Factors, [SDV]Life Sciences [q-bio], lcsh:Medicine, 0302 clinical medicine, Outcome Assessment, Health Care, Survivors, lcsh:Science, Promoter Regions, Genetic, DNA Modification Methylases, Multidisciplinary, Brain Neoplasms, Middle Aged, Prognosis, Immunohistochemistry, Isocitrate Dehydrogenase, 3. Good health, Isocitrate dehydrogenase, 030220 oncology & carcinogenesis, Predictive value of tests, lipids (amino acids, peptides, and proteins), Female, Research Article, Adult, medicine.medical_specialty, IDH1, Subgroup analysis, IDH2, Promoter Regions, Outcome Assessment (Health Care), 03 medical and health sciences, Genetic, Predictive Value of Tests, Internal medicine, medicine, Humans, Survival analysis, Aged, Retrospective Studies, Chi-Square Distribution, business.industry, Tumor Suppressor Proteins, lcsh:R, DNA Methylation, Survival Analysis, DNA Repair Enzymes, Multivariate Analysis, Mutation, lcsh:Q, business, Glioblastoma, Chi-squared distribution, 030217 neurology & neurosurgery
Abstract: International audience; BACKGROUND: A very small proportion of patients diagnosed with glioblastoma (GBM) survive more than 3 years. Isocitrate dehydrogenase 1 or 2 (IDH1/2) mutations define a small subgroup of GBM patients with favourable prognosis. However, it remains controversial whether long-term survivors (LTS) are found among those IDH1/2 mutated patients. METHODS: We retrospectively analyzed 207 GBM patients followed at Lariboisière Hospital (Paris) between 2005 and 2010. Clinical parameters were obtained from medical records. Mutations of IDH1/2 were analyzed in these patients, by immunohistochemistry for the R132H mutation of IDH1 and by high-resolution melting-curve analysis, followed by Sanger sequencing for IDH1 and IDH2 exon 4 mutations. Mutation rates in LTS and non-LTS groups were compared by Chi square Pearson test. RESULTS: Seventeen patients with survival \textgreater3 years were identified (8.2% of the total series). The median overall survival in long-term survivors was 4.6 years. Subgroup analysis found that the median age at diagnosis was significantly higher for non long-term survivors (non-LTS) compared to LTS (60 versus 51 years, p \textless0.03). The difference in the rate of IDH mutation between non-LTS and LTS was statistically not significant (1.16% versus 5.9%, p = 0.144). Among LTS, 10 out of 16 tumors presented a methylation of MGMT promoter. CONCLUSIONS: This study confirms that long-term survival in GBM patients is if at all only weakly correlated to IDH-mutation
Published: 2015

24. Evidenced-based medicine in glioma

Author: Mathew Ryan, Marie Blonski, John Goodden, Henry Colle, Elke De Witte, Giannantonio Spena, Djaina Satoer, Rémy Guillevin, Marie-Therese Forster, Adrià Rofes, Valérie Rigau, Vincent Lubrano, Sandro M. Krieg, Annelies Aerts, Marc Polivka, Thomas Santarius, Maria Zetterling, Wencke Veenstra, Fabien Rech, Lore Van Brussel, Michel Wager, Lorenzo Bello, Evy Visch-Brink, Athanasios Grivas, Johan Pallud, Paul Chumas, Emmanuel Mandonnet, Martin Klein, Philip C. De Witt Hamer, Amélie Darlix, Denys Fontaine, Andres Reyes, Marie-Helene Baron, Fabio Barone, Hugues Duffau, Dimitris Giakoumettis, Anja Smits, Kim van Geemen, Neha Garg, Costanza Papagno, Philippe Schucht, Michiel Wagemakers, Geert-Jan Rutten, Fabien Almairac, Gord von Campe, Silvio Sarubbo, Catarina Viegas, Erik Robert, Juan Martino, Luc Taillandier, Santiago Gil Robles, Tom Snijders, Fleur van Ierschot, Yordanka Yordanova, Matthew C. Tate, Christian F. Freyschlag, Pierre A. Robe, CCA - Cancer Treatment and quality of life, and Medical psychology
Subjects: 03 medical and health sciences, 0302 clinical medicine, Oncology, business.industry, 030220 oncology & carcinogenesis, Glioma, Cancer research, Medicine, Evidence-based medicine, business, medicine.disease, 030217 neurology & neurosurgery
Published: 2017

25. Mitotic index, microvascular proliferation, and necrosis define 3 groups of 1p/19q codeleted anaplastic oligodendrogliomas associated with different genomic alterations

Author: Dominique, Figarella-Branger, Karima, Mokhtari, Caroline, Dehais, Anne, Jouvet, Emmanuelle, Uro-Coste, Carole, Colin, Catherine, Carpentier, Fabien, Forest, Claude-Alain, Maurage, Jean-Michel, Vignaud, Marc, Polivka, Emmanuelle, Lechapt-Zalcman, Sandrine, Eimer, Gabriel, Viennet, Isabelle, Quintin-Roué, Marie-Hélène, Aubriot-Lorton, Marie-Danièle, Diebold, Delphine, Loussouarn, Catherine, Lacroix, Valérie, Rigau, Annie, Laquerrière, Fanny, Vandenbos, Sophie, Michalak, Henri, Sevestre, Michel, Peoch, François, Labrousse, Christo, Christov, Jean-Louis, Kemeny, Marie-Pierre, Chenard, Danchristian, Chiforeanu, François, Ducray, Ahmed, Idbaih, Frederic, Dhermain, Laboratoire d'anatomie pathologique - [Hôpital Nord - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital Nord [CHU - APHM], Centre de Recherches en Oncologie biologique et Oncopharmacologie (CRO2), Aix Marseille Université (AMU)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière (CRICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre de Pathologie et de Neuropathologie Est, Hospices Civils de Lyon (HCL), Service d'anatomie pathologique et histologie-cytologie [Rangueil], Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Centre de Recherches en Cancérologie de Toulouse (CRCT), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), INSERM, U975, Université Paris 06, Service d’Anatomie et Cytologie Pathologiques, Centre Hospitalier Universitaire de Saint-Etienne [CHU Saint-Etienne] (CHU ST-E), Service d'Anatomie Pathologique, Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Service d’Anatomie Pathologique [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Nutrition-Génétique et Exposition aux Risques Environnementaux (NGERE), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL), Service d'anatomie et cytologie pathologiques, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Lariboisière-Fernand-Widal [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7), Laboratoire d'Anatomie Pathologique [CHU Caen], Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Hypoxie, physiopathologies cérébrovasculaire et tumorale (CERVOxy), Imagerie et Stratégies Thérapeutiques des pathologies Cérébrales et Tumorales (ISTCT), Normandie Université (NU)-Normandie Université (NU)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Centre National de la Recherche Scientifique (CNRS)-Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Centre National de la Recherche Scientifique (CNRS), Service de Pathologie-Neuropathologie, CHU de Bordeaux Pellegrin [Bordeaux], Histologie et Pathologie Moléculaire, Université Bordeaux Segalen - Bordeaux 2, Service Anatomie et Cytologie Pathologiques, Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), CHRU Brest - Laboratoire d'Anatomo-Pathologie (CHU - AnaPath), Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Service de Pathologie [CHU de Dijon], Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Laboratoire d'anatomie et cytologie pathologiques [Reims], Centre Hospitalier Universitaire de Reims (CHU Reims), Service d'Anatomie Pathologique B, Centre hospitalier universitaire de Nantes (CHU Nantes), Service d'Anatomie et Cytologie Pathologique, AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), Laboratoire d'Anatomie et Cytologie Pathologiques, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Service d'Anatomie et Cytologie Pathologique [CHU Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), chu de nice, Hôpital Pasteur, Laboratoire Central d’Anatomo Pathologie, Hôpital Pasteur [Nice] (CHU), Département de pathologie cellulaire et tissulaire, CHU d'Angers, 4, rue Larrey, 49100 Angers, France., Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), Service d'Anatomie et Cytologie Pathologiques, CHU Amiens-Picardie, Service d'Anatomie Pathologique [CHU Limoges], CHU Limoges, Hôpital Henri Mondor, CHU Gabriel Montpied [Clermont-Ferrand], CHU Clermont-Ferrand-CHU Clermont-Ferrand, Laboratoire d'anatomie pathologique - Hôpital de Hautepierre Hôpitaux Universitaires de Strasbourg - Université de Strasbourg, Service d'anatomie et cytologie pathologiques [Rennes] = Anatomy and Cytopathology [Rennes], CHU Pontchaillou [Rennes], Service de neuro-oncologie [Hôpital Pierre Wertheimer - HCL], Hôpital neurologique et neurochirurgical Pierre Wertheimer [CHU - HCL], Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (CRNL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service de Neuropathologie Raymond Escourolle [CHU Pitié Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Pitié-Salpêtrière [APHP], Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC), Service de neurologie 2 [CHU Pitié-Salpêtrière], Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-CHU Toulouse [Toulouse]-Hôpital de Rangueil, CHU Toulouse [Toulouse], Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), CHU Saint-Etienne, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Lariboisière-Université Paris Diderot - Paris 7 (UPD7), Normandie Université (NU)-Normandie Université (NU)-Centre National de la Recherche Scientifique (CNRS)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-Centre National de la Recherche Scientifique (CNRS)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Centre Hospitalier Régional Universitaire [Besançon] (CHRU Besançon), Centre Hospitalier Universitaire de Montpellier (CHU Montpellier ), Service d'Anatomie et Cytologie Pathologique [Rouen], AP-HP Hôpital Henri Mondor (Créteil), Service d'anatomie et cytologie pathologiques [Rennes], Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Hôpital Pontchaillou-CHU Pontchaillou [Rennes], Centre de recherche en neurosciences de Lyon (CRNL), Université de Lyon-Université de Lyon-Université Jean Monnet [Saint-Étienne] (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université Paris Diderot - Paris 7 (UPD7)-Hôpital Lariboisière-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Service de Neuropathologie [CHU Pitié Salpêtrière], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hôpital Nord [CHU - APHM]-Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM), Centre National de la Recherche Scientifique (CNRS)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut National de la Santé et de la Recherche Médicale (INSERM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Aix Marseille Université (AMU), Sorbonne Université-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), and Sorbonne Université-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université
Subjects: Cancer Research, Pathology, medicine.medical_specialty, IDH1, Necrosis, Mitotic index, Proliferation index, [SDV]Life Sciences [q-bio], Oligodendroglioma, Biology, Disease-Free Survival, 03 medical and health sciences, 0302 clinical medicine, Chromosome instability, medicine, Mitotic Index, Humans, Progression-free survival, ComputingMilieux_MISCELLANEOUS, Neovascularization, Pathologic, Brain Neoplasms, Brain, medicine.disease, Isocitrate Dehydrogenase, 3. Good health, Oncology, Chromosomes, Human, Pair 1, 030220 oncology & carcinogenesis, Basic and Translational Investigations, Chromosome abnormality, Neurology (clinical), medicine.symptom, Chromosome Deletion, Chromosomes, Human, Pair 19, 030217 neurology & neurosurgery
Abstract: BACKGROUND: The aim of this study was to correlate histological features and molecular characteristics in anaplastic oligodendrogliomas (AO). METHODS: The histological characteristics of 203 AO patients enrolled in the French national network POLA were analyzed. The genomic profiles of 191 cases were studied using genomic arrays. IDH mutational status was assessed by immunohistochemistry and direct sequencing. RESULTS: 1p/19q co-deletion was present in 79% of cases and was associated with alpha-internexin expression (p < 10-4), IDH1/2 mutation (p < 10-4), chromosome 4 loss (p < 10-3), and better overall survival (p < 10-4). Based on mitotic index, microvascular proliferation (MVP) and necrosis, 3 groups of 1p/19q co-deleted AO were identified: AO with more than 5 mitoses per 10-HPF, no MVP and no necrosis, (1), AO with MVP and no necrosis (2) and AO with MVP and necrosis (3). Compared to group 1, group 2 and 3 AO had a higher mean Ki-67 proliferation index and a higher rate of 9p and 9q losses. Compared to group 2, group 3 AO had a higher number of chromosomal alterations including chromosome 4 loss. In the subgroup of 157 1p/19q co-deleted AO, chromosomal instability was associated with shorter progression free survival (p = 0.024) and shorter overall survival (p = 0.023). CONCLUSIONS: The present study shows that oligodendroglioma with classic histological features remains a molecularly heterogeneous entity and should be stratified according to 1p/19q status because of its major prognostic relevance. Moreover, 1p/19q co-deleted AO are also heterogeneous. Interestingly, mitotic index, MVP and necrosis help to classify them into three groups associated with distinct genomic alterations.
Published: 2014

26. HTLV-1-associated inflammatory myopathies: low proviral load and moderate inflammation in 13 patients from West Indies and West Africa

Author: Marion Desdouits, Thomas Papo, Franck Mortreux, Simona Ozden, Arnaud Lacour, Anne-Sophie Morin, Olivier Hermine, Olivier Gout, Thierry Maisonobe, Eric Wattel, Graham P. Taylor, Sandra Martin-Latil, Michel Huerre, Julien Haroche, Olivier Benveniste, Alexandra Desrames, Antônio Lúcio Teixeira, Marie-Christine Cumont, Antoine Gessain, Serge Herson, Gillian Butler-Browne, Marc Polivka, Fabien Zagnoli, Pascale Marcorelles, Jacqueline Mikol, Isabelle Pénisson-Besnier, Pierre-Emmanuel Ceccaldi, Olivier Cassar, Patrick Cherin, Zahir Amoura, Achille Aouba, Cellule Pasteur, Université Paris Diderot - Paris 7 (UPD7)-PRES Sorbonne Paris Cité, Epidémiologie et Physiopathologie des Virus Oncogènes (EPVO (UMR_3569 / U-Pasteur_3)), Institut Pasteur [Paris] (IP)-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre d'épidémiologie sur les causes médicales de décès (CépiDc), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service d'immuno-hématologie pédiatrique [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hôpital Lariboisière, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Lariboisière-Fernand-Widal [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7), Service de neurologie [Angers], Université d'Angers (UA)-Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), CHRU Brest - Laboratoire d'Anatomo-Pathologie (CHU - AnaPath), Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Hôpital Bichat - Claude Bernard, French Military Hospital Clermont-Tonnerre, Service de Médecine Interne, GH Bichat-Claude Bernard, Paris, Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Centre d'Immunologie et de Maladies Infectieuses (CIMI), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Hôpital Beaujon, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7)-Hôpital Beaujon [AP-HP], Laboratoire de Biologie Moléculaire de la Cellule (LBMC), École normale supérieure de Lyon (ENS de Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Fondation Ophtalmologique Adolphe de Rothschild [Paris], Centre National de la Recherche Scientifique (CNRS)-Université Paris Diderot - Paris 7 (UPD7)-Institut Pasteur [Paris], Neuropathologie [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [APHP], Service d'endocrinologie-métabolisme [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Pitié-Salpêtrière [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Lariboisière-Université Paris Diderot - Paris 7 (UPD7), Service de médecine interne [CHU Pitié-Salpétrière], Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC), Institut E3M [CHU Pitié-Salpêtrière], Service de Médecine interne, Service des maladies neuromusculaires [CHU Pitié Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Université Paris Diderot - Paris 7 (UPD7)-Hôpital Beaujon, École normale supérieure - Lyon (ENS Lyon)-Université Claude Bernard Lyon 1 (UCBL), Fondation Rothschild, Université Paris Diderot - Paris 7 ( UPD7 ) -PRES Sorbonne Paris Cité, Epidémiologie et Physiopathologie des Virus Oncogènes, Institut Pasteur [Paris]-Centre National de la Recherche Scientifique ( CNRS ), Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Pitié-Salpêtrière [APHP], Centre d'épidémiologie sur les causes médicales de décès ( CépiDc ), Université Paris Diderot - Paris 7 ( UPD7 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Lariboisière-Université Paris Diderot - Paris 7 ( UPD7 ), Université d'Angers ( UA ) -CHU Angers, CHRU Brest - Laboratoire d'Anatomo-Pathologie ( CHU - AnaPath ), Centre Hospitalier Régional Universitaire de Brest ( CHRU Brest ), Centre Hospitalier Régional Universitaire [Lille] ( CHRU Lille ), Centre d'Immunologie et de Maladies Infectieuses ( CIMI ), Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Assistance publique - Hôpitaux de Paris (AP-HP)-Université Paris Diderot - Paris 7 ( UPD7 ) -Hôpital Beaujon, Laboratoire de Biologie Moléculaire de la Cellule ( LBMC ), École normale supérieure - Lyon ( ENS Lyon ) -Université Claude Bernard Lyon 1 ( UCBL ), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Institut Pasteur [Paris]-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service d’Endocrinologie, Métabolisme et Prévention des Risques Cardio-Vasculaires [CHU Pitié-Salpêtrière], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Diderot - Paris 7 (UPD7), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-École normale supérieure - Lyon (ENS Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon, Université Paris Diderot - Paris 7 (UPD7)-Hôpital Lariboisière-Fernand-Widal [APHP], and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)
Subjects: Male, Pathology, viruses, Myopathy, [SDV]Life Sciences [q-bio], 0302 clinical medicine, Proviruses, Phylogeny, Myositis, Aged, 80 and over, Human T-lymphotropic virus 1, 0303 health sciences, Middle Aged, Viral Load, 3. Good health, Africa, Western, Leukemia, Infectious Diseases, [SDV.MP.VIR]Life Sciences [q-bio]/Microbiology and Parasitology/Virology, RNA, Viral, Muscle, Female, Viral disease, Antibody, medicine.symptom, Viral load, Adult, medicine.medical_specialty, West Indies, Inflammation, Biology, [ SDV.MP.VIR ] Life Sciences [q-bio]/Microbiology and Parasitology/Virology, Statistics, Nonparametric, Virus, 03 medical and health sciences, Virology, medicine, Humans, RNA, Messenger, Aged, Retrospective Studies, 030304 developmental biology, [ SDV ] Life Sciences [q-bio], HTLV, medicine.disease, HTLV-I Infections, Immunology, biology.protein, 030217 neurology & neurosurgery
Abstract: Background The Human T-cell Leukemia Virus type 1 (HTLV-1) is the causative agent of several inflammatory diseases, including HTLV-1-associated inflammatory myopathies (HAIM). Little is known about the virological and immunological characteristics of this viral disease. Objectives To characterize the histological and virological features of HAIM patients, in order to better understand the pathogenetic mechanisms and unravel new biological markers of this disease. Study design We conducted a retrospective study on 13 patients with HAIM, based on blood and muscle samples. We included blood samples from HTLV-1-infected individuals without myopathy as controls. Muscle biopsies were used for a broad immunohistological evaluation of tissue damage and inflammation, as well as identification of infected cells through in situ hybridization. DNA extracted from patients’ PBMC was used to identify the virus genotype by sequencing and to assess the proviral load by quantitative PCR. Anti-viral antibodies in plasma samples were titrated by indirect immunofluorescence. Results Patients originate from HTLV-1 endemic areas, the West Indies and West Africa. Histological alterations and inflammation in patients muscles were mostly moderate, with classical features of idiopathic myositis and rare HTLV-1-infected infiltrating cells. In all patients, HTLV-1 belonged to the A subtype, transcontinental subgroup. Anti-HTLV-1 antibodies titers were high, but the proviral load was not elevated compared to asymptomatic HTLV-1 carriers. Conclusion We show here that muscle inflammation is moderate in HAIM, and accompanied by a low HTLV-1 proviral load, suggesting that the pathogenetic events do not exactly mirror those of other HTLV-1-associated inflammatory diseases.
Published: 2013

27. Diagnosis of Follicular Lesions of Undetermined Significance in Fine-Needle Aspirations of Thyroid Nodules

Author: H. Dahan, B. Cochand-Priollet, Marc Polivka, R. Cohen, R. Kania, M. Laloi-Michelin, J. Ratour, M. L. Dumuis, and L. Hamzi
Subjects: Thyroid nodules, Pathology, medicine.medical_specialty, lcsh:RC648-665, Article Subject, business.industry, Endocrinology, Diabetes and Metabolism, Immunocytochemistry, Thyroid, Cancer, medicine.disease, Bethesda system for reporting thyroid cytopathology, lcsh:Diseases of the endocrine glands. Clinical endocrinology, Cytokeratin, medicine.anatomical_structure, Monoclonal, Clinical Study, Atypia, medicine, business
Abstract: Aim. We aimed to analyze the diagnostic criteria proposed by the Bethesda System for Reporting Thyroid Cytopathology for follicular lesions of undetermined significance (FLUS), the risk of cancer and diagnostic improvement with use of immunocytochemistry.Methods. For each FLUS diagnosis, we analyzed the cytological criteria (9 Bethesda criteria), secondary fine-needle aspiration (FNA) results, surgical procedures, contribution of immunocytochemistry with the antibodies cytokeratin 19 (CK19) and monoclonal anti-human mesothelial cell (HBME1).Results. Among patients with 2,210 thyroid FNAs, 244 lesions (337 nodules) were classified as FLUS (11% of all thyroid FNAs). The 3 criteria most often applied were cytological atypia suggesting papillary carcinoma (36%), microfollicular architecture but sparse cellularity (23.1%), cytological atypia (21.5%). With secondary FNA, 48.8% of nodules were reclassified as benign. For about half of all cases (41.4% for the first FNA, 57.6% for the second FNA), immunocytochemistry helped establishing a diagnosis favoring malignant or benign. No benign immunocytochemistry results were associated with a malignant lesion. In all, 22.5% of the 39 removed nodules were malignant.Conclusion. The FLUS category is supported by well-described criteria. The risk of malignancy in our series was 22.5%. Because we had no false-negative immunocytochemistry results, immunocytochemistry could be helpful in FLUS management.
Published: 2013

28. Pseudotumoural presentation of neuro-Behcet's disease: case series and review of literature

Author: Marie Hutié, David Saadoun, Véronique Delcey, Didier Dormont, Marc Polivka, Stéphane Vignes, Nicolas Noel, Zahir Amoura, Bertrand Wechsler, Du Le Thi Huong-Boutin, Patrice Cacoub, Service de médecine interne [CHU Pitié-Salpétrière], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Pitié-Salpêtrière [APHP], Service de neuro-radiologie [CHU Pitié-Salpêtrière], Equipe NEMESIS - Centre de Recherches de l'Institut du Cerveau et de la Moelle épinière (NEMESIS-CRICM), Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière (CRICM), Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC), Service de Médecine Interne, Hôpital Lariboisière, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Lariboisière-Université Paris Diderot - Paris 7 (UPD7), Biologie et thérapeutique des pathologies immunitaires (BTPI), Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC), Immunologie - Immunopathologie - Immunothérapeutique (I3), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de Neuroradiologie [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Hôpital Lariboisière-Fernand-Widal [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université Paris Diderot - Paris 7 (UPD7)-Hôpital Lariboisière-Fernand-Widal [APHP], Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Lariboisière-Fernand-Widal [APHP], and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7)
Subjects: Adult, Male, Pathology, medicine.medical_specialty, Biopsy, Gastroenterology, Diagnosis, Differential, 03 medical and health sciences, 0302 clinical medicine, Rheumatology, Internal medicine, medicine, [INFO.INFO-IM]Computer Science [cs]/Medical Imaging, Humans, Pharmacology (medical), heterocyclic compounds, 10. No inequality, Retrospective Studies, 030203 arthritis & rheumatology, Pseudotumor Cerebri, medicine.diagnostic_test, business.industry, Behcet Syndrome, technology, industry, and agriculture, Brain, Magnetic resonance imaging, Retrospective cohort study, Middle Aged, medicine.disease, Magnetic Resonance Imaging, eye diseases, 3. Good health, Erectile dysfunction, medicine.anatomical_structure, Sphincter, Female, lipids (amino acids, peptides, and proteins), Nervous System Diseases, Presentation (obstetrics), Neuro-Behçet's disease, Tomography, X-Ray Computed, business, 030217 neurology & neurosurgery, Follow-Up Studies, Male predominance
Abstract: International audience; OBJECTIVE: To describe the pseudotumoural presentation of neuro-Behçet's disease (NBD). METHODS: We report here the main characteristics, treatment and outcome of 23 patients (5 personal cases and 18 patients from the literature) with a pseudotumoural presentation of NBD. Pseudotumoural NBD patients were compared with 69 consecutive patients, with a classical form of NBD. RESULTS: The median age was 39 (range 27-48 years) years, with a male predominance (65.2%). Clinical features of the pseudotumoural NBD included hemi- or tetra-pyramidal symptoms (n = 20), headache (n = 17), cerebellar syndrome (n = 3), sphincter impotence (n = 3) and pseudobulbar signs (n = 2). CNS imaging showed pseudotumoural lesions mainly in the capsulo-thalamic area (69.6 vs 11.6% for classical NBD; P
Published: 2012

29. Dorsal epidural spinal lipomatosis

Author: Salvatore Chibbaro, M Nouri, Giuseppe Mirone, P. Di Emidio, Bernard George, M. Marsella, and Marc Polivka
Subjects: Epidural Space, medicine.medical_specialty, Cord, Neurology, Fibrolipoma, business.industry, Lipomatosis, General Medicine, Middle Aged, medicine.disease, Spinal cord, Epidural space, Article, Spinal Cord Diseases, Thoracic Vertebrae, Surgery, medicine.anatomical_structure, Thoracic vertebrae, medicine, Back pain, Humans, Female, medicine.symptom, business
Abstract: The authors report a case of a thoracic epidural spinal lipomatosis causing severe neurological deficits along the review of pertinent literature. The patient is a 56-year-old woman who presented with acute onset of severe paraparesis; she was investigated with cervical and thoracic MRI and then surgically managed because of an intraspinal mass compressing the cord. The operation consisted in the excision of the mass confirmed to be a fibrolipoma by pathological analysis. The patient attained complete neurological recovery and at 18 months follow-up she reported a generalised well-being. Thoracic lipomas are rare lesions that presenting mostly with back pain; however, in rare instances they may cause progressive and/or abrupt neurological dysfunction. Appropriate imaging can help in the diagnosis and management of such cases.
Published: 2011

30. Rapid onset frontal leukodystrophy with decreased diffusion coefficient and neuroaxonal spheroids

Author: Françoise Gray, Frédéric Sedel, Olivier Gout, Olivier Lyon-Caen, Jean-Jacques Hauw, Elisabeth Maillart, Marc Polivka, Pierre Labauge, Damien Galanaud, Audrey Rousseau, Service de neuro-pathologie [CHU Pitié-Salpêtrière], Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Equipe NEMESIS - Centre de Recherches de l'Institut du Cerveau et de la Moelle épinière (NEMESIS-CRICM), Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière (CRICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service de Neuroradiologie [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Unité UMR_S956, Hôpital Lariboisière, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Lariboisière-Fernand-Widal [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7), GHU Garemeau-Nîmes, Laboratoire de Neuropathologie Raymond Escourolle, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Université Pierre et Marie Curie - Paris 6 (UPMC), Expernova, Expernova.com, Pathology Department, VU University Medical Center [Amsterdam], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Laboratoire de Neuropathologie Raymond Escourolle [CHU Pitié-Salpétriêre], Université Pierre et Marie Curie - Paris 6 (UPMC)-CHU Pitié-Salpêtrière [AP-HP], Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Pitié-Salpêtrière [APHP], Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC), Service de neuro-radiologie [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Pitié-Salpêtrière [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Lariboisière-Université Paris Diderot - Paris 7 (UPD7), and CHU Pitié-Salpêtrière [APHP]
Subjects: Adult, medicine.medical_specialty, Pathology, Neurology, Time Factors, Biology, Corpus callosum, Nerve Fibers, Myelinated, Neuroaxonal spheroids, Central nervous system disease, 03 medical and health sciences, 0302 clinical medicine, Degenerative disease, medicine, [INFO.INFO-IM]Computer Science [cs]/Medical Imaging, Effective diffusion coefficient, Humans, 030304 developmental biology, 0303 health sciences, Brain Diseases, integumentary system, Leukodystrophy, medicine.disease, Frontal Lobe, Diffusion Magnetic Resonance Imaging, Rapid onset, Female, Neurology (clinical), 030217 neurology & neurosurgery
Abstract: International audience; Adult leukodystrophies with neuroaxonal spheroids (LNS) constitute a heterogeneous group of genetic diseases. Herein, we report on two unrelated patients with LNS characterized by rapid onset, predominant involvement of the frontal white matter, and areas of decreased apparent diffusion coefficient on diffusion-weighted imaging. We found similar cases in the literature and propose that they represent a distinct entity within the group of LNS. Further studies will be required to identify its molecular basis.
Published: 2009

31. Chromosome 1p loss: A favorable prognostic factor in low‐grade gliomas.

Author: Michèle Kujas, Julie Lejeune, Alexandra Benouaich‐Amiel, Emmanuelle Crinière, Florence Laigle‐Donadey, Yannick Marie, Karima Mokhtari, Marc Polivka, Michèle Bernier, Fabrice Chretien, Anne Couvelard, Laurent Capelle, Hugues Duffau, Philippe Cornu, Philippe Broët, Joëlle Thillet, Antoine F. Carpentier, Marc Sanson, Khê Hoang‐Xuan, and Jean‐Yves Delattre
Published: 2005

32. Radiological Features of Bone Lymphoma on CT and MRI. A Retrospective Monocentric Series of 56 Patients.

Author: Nguyen PT, Sibileau E, Polivka M, Attané G, and Bousson V
Subjects: Humans, Retrospective Studies, Magnetic Resonance Imaging, Radiography, Tomography, X-Ray Computed, Fluorodeoxyglucose F18, Lymphoma diagnostic imaging, Lymphoma pathology
Published: 2023
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32 results on '"Marc Polivka"'

1. Same Diagnosis but Different Story! A Tale of Two Primary Lymphomas of the Calvaria

2. The dural angioleiomyoma harbors frequent GJA4 mutation and a distinct DNA methylation profile

3. A recurrent point mutation in PRKCA is a hallmark of chordoid gliomas

4. Cerebral Amyloid Angiopathy Related Inflammation With Prominent Meningeal Involvement. A Report of 2 Cases

5. Bifocal germinoma of the septum pellucidum and the sellar-supra-sellar region: An uncommon presentation for a rare tumor

6. IDH-Mutation Is a Weak Predictor of Long-Term Survival in Glioblastoma Patients.

7. A bi-allelic loss-of-function SARS1 variant in children with neurodevelopmental delay, deafness, cardiomyopathy, and decompensation during fever

8. Dramatic In Vivo Efficacy of the EZH2-Inhibitor Tazemetostat in PBRM1-Mutated Human Chordoma Xenograft

9. High-grade gliomas in adolescents and young adults highlight histomolecular differences from their adult and pediatric counterparts

10. Female gender and exogenous progesterone exposition as risk factors for spheno-orbital meningiomas

11. Medulloblastomas associated with an APC germline pathogenic variant share the good prognosis of CTNNB1-mutated medulloblastomas

12. HGG-11. HIGH-GRADE GLIOMAS IN ADOLESCENTS AND YOUNG ADULTS HIGHLIGHT HISTOMOLECULAR DIFFERENCES WITH THEIR ADULT AND PAEDIATRIC COUNTERPARTS

13. Locally aggressive monostotic fibrous dysplasia of the cervical spine mimicking malignancy: a case report and literature review

14. Identification of novel recurrent ETV6-IgH fusions in primary central nervous system lymphoma

15. Aneurysmal bone cyst of the frontal bone - A radiologic-pathologic correlation

16. FGFR1 actionable mutations, molecular specificities, and outcome of adult midline gliomas

17. MBCL-38. MEDULLOBLASTOMAS ASSOCIATED WITH APC GERMLINE MUTATION: A MULTICENTRIC FRENCH AND BELGIAN REVIEW

18. Chromosome 17p Homodisomy Is Associated With Better Outcome in 1p19q Non-Codeleted and IDH-Mutated Gliomas

19. Intrathecal Trastuzumab Halts Progression of CNS Metastases in Breast Cancer

20. Prognostic and Therapeutic Markers in Chordomas: A Study of 287 Tumors

21. Prognostic impact of the 2016 WHO classification of diffuse gliomas in the French POLA cohort

22. Papillary glioneuronal tumors: histological and molecular characteristics and diagnostic value of SLC44A1-PRKCA fusion

23. IDH-Mutation Is a Weak Predictor of Long-Term Survival in Glioblastoma Patients

24. Evidenced-based medicine in glioma

25. Mitotic index, microvascular proliferation, and necrosis define 3 groups of 1p/19q codeleted anaplastic oligodendrogliomas associated with different genomic alterations

26. HTLV-1-associated inflammatory myopathies: low proviral load and moderate inflammation in 13 patients from West Indies and West Africa

27. Diagnosis of Follicular Lesions of Undetermined Significance in Fine-Needle Aspirations of Thyroid Nodules

28. Pseudotumoural presentation of neuro-Behcet's disease: case series and review of literature

29. Dorsal epidural spinal lipomatosis

30. Rapid onset frontal leukodystrophy with decreased diffusion coefficient and neuroaxonal spheroids

31. Chromosome 1p loss: A favorable prognostic factor in low‐grade gliomas.

32. Radiological Features of Bone Lymphoma on CT and MRI. A Retrospective Monocentric Series of 56 Patients.

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32 results on '"Marc Polivka"'

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