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2. Data from MAX Mutations Cause Hereditary and Sporadic Pheochromocytoma and Paraganglioma

Author

Mercedes Robledo, Anne-Paule Gimenez-Roqueplo, Graeme Eisenhofer, Giuseppe Opocher, Patricia L. M. Dahia, Massimo Mannelli, Karel Pacak, Felix Beuschlein, Miguel Urioste, Carli M.J. Tops, Henri J.L.M. Timmers, Elisa Taschin, Carlos Suarez, Alexander P.A. Stegmann, Frank Schillo, Macarena Ruiz-Ferrer, Giovanna Roncador, Nicole Reisch, Victoria Raymond, Elena Rapizzi, Nan Qin, Miguel Quesada-Charneco, Tamara Prodanov, Pierre-François Plouin, Peggy Pierre, Arnaud Murat, Luigi Mori, Anna Merlo, Arjen R. Mensenkamp, Rocío Letón, Jacques W.M. Lenders, Esther Korpershoek, Emiliano Honrado, Frederik J. Hes, Isabelle Guilhem, Álvaro Gómez-Graña, Encarna B. Gómez-García, Xavier Girerd, Tonino Ercolino, Ronald R. de Krijger, Mara Giacchè, Eleonora P.M. Corssmit, María-Dolores Chiara, Philippe Chanson, Maurizio Castellano, Salud Borrego, Sara Bobisse, Marinus J. Blok, Yves-Jean Bignon, Jérôme Bertherat, Sandra Bernaldo de Quirós, Marta Barontini, Laurence Amar, Aguirre A. de Cubas, Lucía Inglada-Pérez, Nasséra Abermil, Iñaki Comino-Méndez, Nicole Paes Morales, Francesca Schiavi, Alberto Cascón, and Nelly Burnichon

Abstract

Purpose: Pheochromocytomas (PCC) and paragangliomas (PGL) are genetically heterogeneous neural crest–derived neoplasms. Recently we identified germline mutations in a new tumor suppressor susceptibility gene, MAX (MYC-associated factor X), which predisposes carriers to PCC. How MAX mutations contribute to PCC/PGL and associated phenotypes remain unclear. This study aimed to examine the prevalence and associated phenotypic features of germline and somatic MAX mutations in PCC/PGL.Design: We sequenced MAX in 1,694 patients with PCC or PGL (without mutations in other major susceptibility genes) from 17 independent referral centers. We screened for large deletions/duplications in 1,535 patients using a multiplex PCR-based method. Somatic mutations were searched for in tumors from an additional 245 patients. The frequency and type of MAX mutation was assessed overall and by clinical characteristics.Results: Sixteen MAX pathogenic mutations were identified in 23 index patients. All had adrenal tumors, including 13 bilateral or multiple PCCs within the same gland (P < 0.001), 15.8% developed additional tumors at thoracoabdominal sites, and 37% had familial antecedents. Age at diagnosis was lower (P = 0.001) in MAX mutation carriers compared with nonmutated cases. Two patients (10.5%) developed metastatic disease. A mutation affecting MAX was found in five tumors, four of them confirmed as somatic (1.65%). MAX tumors were characterized by substantial increases in normetanephrine, associated with normal or minor increases in metanephrine.Conclusions: Germline mutations in MAX are responsible for 1.12% of PCC/PGL in patients without evidence of other known mutations and should be considered in the genetic work-up of these patients. Clin Cancer Res; 18(10); 2828–37. ©2012 AACR.

Published
2023
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3. Persistent Müllerian duct syndrome associated with genetic defects in the regulatory subunit of myosin phosphatase

Author

Jean-Yves Picard, Gilles Morin, Mojgan Devouassoux-Shisheboran, Jasper Van der Smagt, Serge Klosowski, Catherine Pienkowski, Peggy Pierre-Renoult, Cécile Masson, Christine Bole, and Nathalie Josso

Subjects
Male, Anti-Mullerian Hormone, Myosin-Light-Chain Phosphatase, Disorder of Sex Development, 46,XY, Reproductive Medicine, Rehabilitation, Obstetrics and Gynecology, Humans, DNA
Abstract

STUDY QUESTION Can mutations of genes other than AMH or AMHR2, namely PPP1R12A coding myosin phosphatase, lead to persistent Müllerian duct syndrome (PMDS)? SUMMARY ANSWER The detection of PPP1R12A truncation mutations in five cases of PMDS suggests that myosin phosphatase is involved in Müllerian regression, independently of the anti-Müllerian hormone (AMH) signaling cascade. WHAT IS KNOWN ALREADY Mutations of AMH and AMHR2 are detectable in an overwhelming majority of PMDS patients but in 10% of cases, both genes are apparently normal, suggesting that other genes may be involved. STUDY DESIGN, SIZE, DURATION DNA samples from 39 PMDS patients collected from 1990 to present, in which Sanger sequencing had failed to detect biallelic AMH or AMHR2 mutations, were screened by massive parallel sequencing. PARTICIPANTS/MATERIALS, SETTING, METHODS To rule out the possibility that AMH or AMHR2 mutations could have been missed, all DNA samples of good quality were analyzed by targeted next-generation sequencing. Twenty-four samples in which the absence of AMH or AMHR2 biallelic mutations was confirmed were subjected to whole-exome sequencing with the aim of detecting variants of other genes potentially involved in PMDS. MAIN RESULTS AND THE ROLE OF CHANCE Five patients out of 24 (21%) harbored deleterious truncation mutations of PP1R12A, the gene coding for the regulatory subunit of myosin phosphatase, were detected. In addition to PMDS, three of these patients presented with ileal and one with esophageal atresia. The congenital abnormalities associated with PMDS in our patients are consistent with those described in the literature for PPP1R12A variants and have never been described in cases of AMH or AMHR2 mutations. The role of chance is therefore extremely unlikely. LIMITATIONS, REASONS FOR CAUTION The main limitation of the study is the lack of experimental validation of the role of PPP1R12A in Müllerian regression. Only circumstantial evidence is available, myosin phosphatase is required for cell mobility, which plays a major role in Müllerian regression. Alternatively, PPP1R12A mutations could affect the AMH transduction pathway. WIDER IMPLICATIONS OF THE FINDINGS The study supports the conclusion that failure of Müllerian regression in males is not necessarily associated with a defect in AMH signaling. Extending the scope of molecular analysis should shed light upon the mechanism of the initial steps of male sex differentiation. STUDY FUNDING/COMPETING INTEREST(S) The study was funded by la Fondation Maladies Rares, GenOmics 2021_0404 and la Fondation pour la Recherche Médicale, grant EQU201903007868. The authors report no conflict of interest. TRIAL REGISTRATION NUMBER N/A.

Published
2022

5. Recurrence-Free Survival Analysis in Locally Advanced Pheochromocytoma: First Appraisal

Author

Laurence Amar, Françoise Borson-Chazot, Eric Baudin, Anne-Paule Gimenez-Roqueplo, Marie-Laure Raffin Sanson, Delphine Vezzosi, Suzanne Laroche, Carole Guerin, Delphine Drui, Christine Docao, Gabrielle Deniziaut, Karine Renaudin, Arnaud Jannin, Frederic Castinetti, Sophie Moog, R. Libe, S. Laboureau, Julien Hadoux, Charlotte Lussey-Lepoutre, Ségolène Hescot, Peggy Pierre, Abir Al Ghuzlan, Sophie Leboulleux, Marie Batisse Ligner, Livia Lamartina, Matthieu Faron, Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service d'endocrinologie, diabète, maladies métaboliques [Hôpital de la Conception - APHM], Aix Marseille Université (AMU), Centre de recherche en épidémiologie et santé des populations (CESP), and Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay

Subjects
0301 basic medicine, Capsular Invasion, Adult, Male, medicine.medical_specialty, Multivariate analysis, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Population, Adrenal Gland Neoplasms, Context (language use), Pheochromocytoma, Biochemistry, Gastroenterology, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Internal medicine, medicine, Clinical endpoint, Humans, Neoplasm Metastasis, education, Pathological, Aged, Retrospective Studies, education.field_of_study, business.industry, Biochemistry (medical), Middle Aged, medicine.disease, Prognosis, 030104 developmental biology, 030220 oncology & carcinogenesis, Female, Lymph, Neoplasm Recurrence, Local, business, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract

Context The behavior of locally advanced pheochromocytoma (LAP) remains unknown. Objective We characterized the population with LAP and recurrence-free survival (RFS). Methods This retrospective multicentric study was run within the ENDOCAN-COMETE network and French Group of Endocrine Tumors (GTE) from 2003 to 2018, including patients from 11 French referral centers with LAP as defined by capsular invasion, vascular invasion, adipose tissue invasion, and/or positive locoregional lymph nodes at diagnosis without evidence of distant metastasis. The main outcome measure was recurrence, defined as tumor reappearance, including local site and/or distant metastasis. The primary endpoint was RFS analysis; secondary endpoints were characterization, overall survival (OS), and prognostic factors of recurrence. Results Among 950 patients, 90 (9%) exhibited LAP criteria and 55 met inclusion criteria (median age, 53 years; 61% males; 14% with germline mutation; 84% with catecholamine excess). LAP was defined by 31 (56%) capsular invasions, 27 (49%) fat invasions, 6 (11%) positive lymph nodes, and 22 (40%) vascular invasions. After median follow-up of 54 months (range, 6-180), 12 patients (22%) had recurrences and 3 (5%) died of metastatic disease. Median RFS was 115 months (range, 6-168). Recurrences were local in 2 patients, distant in 2, and both local and distant in 8 patients. Median OS of patients was not reached. Size above 6.5 cm (P = 0.019) and Ki-67 > 2% (P = 0.028) were identified as independent significant prognostic factors in multivariate analysis. Conclusion LAP represents 9% of pheochromocytoma’s population and has a metastatic behavior. This study paves the way for future pathological TNM classification.

Published
2020
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6. Signs and symptoms of acromegaly at diagnosis: the physician’s and the patient’s perspectives in the ACRO-POLIS study

Author

Thierry Brue, Fatine Elaraki, Aude Houchard, Peggy Pierre Renoult, Brigitte Delemer, Anne Cailleux, Philippe Caron, Philippe Chanson, Gérald Raverot, Antoine Tabarin, Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service d'endocrinologie, diabète, maladies métaboliques [Hôpital de la Conception - APHM], and Aix Marseille Université (AMU)

Subjects
Pediatrics, medicine.medical_specialty, Demographics, Endocrinology, Diabetes and Metabolism, 030209 endocrinology & metabolism, Signs and symptoms, Disease, 03 medical and health sciences, Cubital tunnel syndrome, 0302 clinical medicine, Endocrinology, Diabetes mellitus, Diagnosis, Acromegaly, medicine, [SDV.GEN]Life Sciences [q-bio]/Genetics, business.industry, Enlarged hands, medicine.disease, Multiple correspondence analysis, 3. Good health, Sign-and-symptom association, 030220 oncology & carcinogenesis, Observational study, business
Abstract

International audience; PurposeAcromegaly is characterized by a broad range of manifestations. Early diagnosis is key to treatment success, but is often delayed as symptomatology overlaps with common disorders. We investigated sign-and-symptom associations, demographics, and clinical characteristics at acromegaly diagnosis.MethodsObservational, cross-sectional, multicenter non-interventional study conducted at 25 hospital departments in France that treat acromegaly (ClinicalTrials.gov: NCT02012127). Adults diagnosed with acromegaly

Published
2018
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7. Risk of autoimmune diseases and human papilloma virus (HPV) vaccines: Six years of case-referent surveillance

Author

Lamiae Grimaldi-Bensouda, Michel Rossignol, Isabelle Koné-Paut, Alain Krivitzky, Christine Lebrun-Frenay, Johanna Clet, David Brassat, Caroline Papeix, Marc Nicolino, Pierre-Yves Benhamou, Olivier Fain, Nathalie Costedoat-Chalumeau, Marie-France Courcoux, Jean-François Viallard, Bertrand Godeau, Thomas Papo, Patrick Vermersch, Isabelle Bourgault-Villada, Gerard Breart, Lucien Abenhaim, Firas Abbas, Abdelhakim Abdelmoumni, Pascal Hilliquin, Elisabeth Requeda, Daniel Adoue, Christian Agard, Agathe Masseau, Nathalie Aladjidi, Helder Fernandes, Gwendal Lemasson, Yves Perel, Isabelle Raymond, Olivier Richer, Anne Vital, Emma Allain-Launay, Marie Bru, Caroline Thomas, Jean-Jacques Altman, Daniel Amsallem, Nazmiye Aras, Latifato Boukari, Marie Dubrel, Edouard Letellier, Nadine Lucidarme, Arsène Mekinian, Anne-Sophie Morin, Jérôme Stirnemann, Catherine Atlan, Dominique Audry, Jérôme Augustin, Redouane Bakir, Pablo Bartolucci, Xavier Chevalier, Constance Guillaud, Mehdi Khellaf, Nicolas Limal, Valentine Lousteau, Matthieu Mahevas, Gayane Méliksetyan, Marc Michel, Mathilde Roumier, Sophie Bayart, Fabrice Bonnet, Olivier Decaux, Amine Bekherraz, Benoit Brihaye, Roger Dachez, Eric Daugas, Gilles Hayem, Olivier Meyer, Elisa Pasqualoni, Karim Sacre, Florence Travert, Hélène Bellon, Jacques Beltrand, François Lefrere, Albane Simon, Olivier Benveniste, Francis Bolgert, Raphael De Paz, Sophie Demeret, Bruno Fautrel, Sophie Jacqueminet, Céline Louapre, Elizabeth Maillart, Nathalie Morel, Julie Rigabert, Philippe Bensaid, Claire Berger, Patrick Berquin, Anne-Gaëlle Le Moing, Stéphane Berroir, Gérard Besson, Célia Boutte, Olivier Casez, Bernard Bonnotte, Sylvain Audia, Cécile Bossu-Estour, Anne Bourgarit, Alain Dupuy, Homa Keshmandt, Bertrand Bourre, Aude Brac, Agnès Perrin, Corinne Pondarré, Sylvie Villar-Fimbel, Isabelle Bruckert, Anne Cosson, Nadine Magy-Bertrand, Guillaume Tisserand, William Camu, Bertrand Carlander, Raul Juntas Morales, Claude Cances, Marlene Pasquet, Maria Angela Castilla Lievre, Stephanie Chabroux, Mamoud Charif, Emmanuel Chatelus, Jean Sibilia, Jacqueline Chevrant-Breton, Sylvaine Clavel, Françoise Bille-Turc, Jacques Cohen, Marie France Courcoux, Guy Leverger, Laurent Machet, Jean-Marie Cuisset, Pascale Cony-Makhoul, Paul Darsy, Sandrine Favre, Pierrick Giraud, Laurence Leitenschenck, Irène Monteiro, Chafika Morati, Jérôme DeSeze, Monica Dinulescu, Taher Dhaoui, Florence Dommange-Romero, Elisabeth Drevard, Clémentine Dupuis, Marie-Laure Dumuis, Jean-Marc Durand, Samia Farad, Pierre Lecomte, Peggy Pierre, Fanny Fouyssac, Philippe Gaudin, Alain Gautier, Justine Gellen-Dautremer, Irène Jarrin, Pascal Richette, Emilie Georget, Pierre Gras, Thibault Moreau, Eric Giraud, Maya Hacini, Anne Mayer, Cécile Guillaumat, Séverine Guillaume, Corinne Guitton, Isabelle Kone-Paut, Céline Marsaud, Linda Rossi, Marie-Hélène Guyot, Patrick Hassler, Claude Heimfert, Olivier Heinzlef, Brigitte Hillion, Catherine Hocquelet, Helene Husson, Pierre Ichai, Eric Jeziorski, Chantal Job Deslandre, Véronique Le Guern, Kamen Kamenov, Véronique Kerlan, Philippe Lemoine, Laurent Misery, Brigitte Pan-Petesch, Pierre Labauge, Michel Rodier, Chadi Lacade, Berthe Razafimahefa, Karim Lachgar, Marie-Pierre Larmarau, Thierry Leblanc, Patrick Lefèbvre, Philippe Lejoyeux, Charles Leske, Kim Ly, Laurent Magy, Sylvie Mansuy, Richard Marechaud, Marie-Laure Martin Negrier, Guilhem Sole, Jean Maupetit, Françoise Mazingue, Stéphanie Mochon, Blidi Moktar, Donald Morcamp, Nathalie Morlet-Barla, Guillaume Nicolas, Vivien Pautot, Isabelle Pellier, Jean-Luc Verret, Olivier Outteryck, Beatrice Pallot-Prades, Jean Michel Paquet, Xavier Puechal, Annie Sortais, Jean Pelletier, Audrey Rico, Dominique Pez, Bruno Stankoff, Philippe Quittet, Claude Rémy, Eléna Roba, Hélène Rosario, Nathalie Roudaut, Emmanuel Sonnet, Michel Ruel, Samuel Sebban, Pauline Schaepelynck, Marie-Jeanne Simonin, Christophe Vial, Jean-Francois Viallard, Isabelle Ladedan, Thierry Zenone, LASER ANALYTICA, Paris (LA-SER), Centre d'enseignement Cnam Paris (CNAM Paris), Conservatoire National des Arts et Métiers [CNAM] (CNAM), HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM)-HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM), Service de Rhumatologie [CHU Bicêtre], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Bicêtre, Centre de référence des maladies auto-inflammatoires, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de médecine interne [Avicenne], Hôpital Avicenne [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Neurologie [CHU Nice], Hôpital Pasteur [Nice] (CHU)-Centre Hospitalier Universitaire de Nice (CHU Nice), CHU Bordeaux [Bordeaux], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Hospices Civils de Lyon (HCL), CHU Grenoble, Service de médecine interne [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), Service de médecine interne et centre de référence des maladies rares [CHU Cochin], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], CHU Trousseau [APHP], Service de médecine interne et maladies infectieuses [Bordeaux], CHU Bordeaux [Bordeaux]-Groupe hospitalier Saint-André, Service de médecine interne [Mondor], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), AP-HP - Hôpital Bichat - Claude Bernard [Paris], Centre de recherche sur l'Inflammation (CRI (UMR_S_1149 / ERL_8252 / U1149)), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Département Hospitalo-Universitaire Fibrosis, Inflammation, Remodeling in cardiovascular, respiratory and renal diseases (Paris), Lille Inflammation Research International Center - U 995 (LIRIC), Institut Pasteur de Lille, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Hôpital Claude Huriez [Lille], CHU Lille, Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), Institut Cochin (IC UM3 (UMR 8104 / U1016)), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Hôpital Ambroise Paré [AP-HP], Equipe 1 : EPOPé - Épidémiologie Obstétricale, Périnatale et Pédiatrique (CRESS - U1153), Université Paris Descartes - Paris 5 (UPD5)-Centre de Recherche Épidémiologie et Statistique Sorbonne Paris Cité (CRESS (U1153 / UMR_A_1125 / UMR_S_1153)), Institut National de la Recherche Agronomique (INRA)-Université Paris Diderot - Paris 7 (UPD7)-Université Paris Descartes - Paris 5 (UPD5)-Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de la Recherche Agronomique (INRA)-Université Paris Diderot - Paris 7 (UPD7)-Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM), DHU Risques Et Grossesse, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), CHU Toulouse [Toulouse], Service de neurologie 1 [CHU Pitié-Salpétrière], 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 d'hématologie-immunologie-oncologie pédiatrique [CHU Trousseau], 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 Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de Recherche Épidémiologie et Statistique Sorbonne Paris Cité (CRESS (U1153 / UMR_A_1125 / UMR_S_1153)), Institut National de la Recherche Agronomique (INRA)-Université Paris Diderot - Paris 7 (UPD7)-Université Paris Descartes - Paris 5 (UPD5)-Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de la Recherche Agronomique (INRA)-Université Paris Diderot - Paris 7 (UPD7)-Université Paris Descartes - Paris 5 (UPD5)-Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Bicêtre, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Hôpital Avicenne, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Pitié-Salpêtrière [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Cochin [AP-HP], Service d’oncologie hématologie pédiatrique [CHU Trousseau], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Diderot - Paris 7 (UPD7), Lille Inflammation Research International Center (LIRIC), Hôpital Claude Huriez, Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Hôpital Ambroise Paré, Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), Service de Neurologie [CHU Pitié-Salpêtrière], IFR70-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), Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Institut Pasteur de Lille, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP), and Centre National de la Recherche Scientifique (CNRS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)

Subjects
Adult, Male, Risk, Pediatrics, medicine.medical_specialty, Adolescent, Immunology, HPV vaccines, Autoimmune Diseases, Autoimmune thyroiditis, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Autoimmune disease, Odds Ratio, medicine, Humans, Immunology and Allergy, Papillomavirus Vaccines, 030212 general & internal medicine, Family history, Young adult, Child, HPV vaccine, business.industry, Pharmacoepidemiology, Papillomavirus Infections, Odds ratio, medicine.disease, Thrombocytopenic purpura, Connective tissue disease, Confidence interval, 3. Good health, Population Surveillance, [SDV.IMM]Life Sciences [q-bio]/Immunology, Female, business, 030217 neurology & neurosurgery, Follow-Up Studies
Abstract

Background Safety of HPV vaccines is still in question due to reports of autoimmune diseases (ADs) following HPV immunization. Objectives To assess the risk of ADs associated with HPV vaccination of female adolescents/young adults in France. Methods Systematic prospective case-referent study conducted to assess the risks associated with real-life use of HPV vaccines. Cases were female 11–25 years old with incident ADs [central demyelination/multiple sclerosis (CD/MS), connective tissue disease (CTD), Guillain-Barre syndrome (GBS), type-1 diabetes (T1D), autoimmune thyroiditis (AT), and idiopathic thrombocytopenic purpura (ITP)]. Cases were consecutively and prospectively identified at specialized centers across France (2008–2014) and individually matched by age and place of residence to referents recruited in general practice. Risk was computed using multivariate conditional logistic regression models adjusted for family history of ADs, living in France (north/south), co-medications and co-vaccinations. Results With a total of 478 definite cases matched to 1869 referents, all ADs combined were negatively associated to HPV vaccination with an adjusted odds ratio of 0.58 (95% confidence interval: 0.41–0.83). Similar results were obtained for CD/MS, AT, CT, and T1D, the last two not reaching statistical significance. No association was found for ITP and GBS. Sensitivity analyses combining definite and possible cases with secondary time window showed similar results. Conclusion Exposure to HPV vaccines was not associated with an increased risk of ADs within the time period studied. Results were robust to case definitions and time windows of exposure. Continued active surveillance is needed to confirm this finding for individual ADs.

Published
2017
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8. Caractérisation des ganglioneuromes de la surrénale : une étude rétrospective multicentrique de 106 cas issus du réseau COMETE

Author

Charlotte Lussey-Lepoutre, C. Storey, Bénédicte Decoudier, Delphine Drui, Peggy Pierre, Eric Baudin, I. Raingeard, Natacha Driessens, Antoine-Guy Lopez, Emmanuelle Vidal-Petiot, Laurent Brunaud, Frédéric Illouz, Pierre Goudet, O. Gilly, A. Tabarin, Marie-Christine Vantyghem, Nicolas Chevalier, Hervé Lefebvre, A. Morini, Jérôme Bertherat, Delphine Vezzosi, S. Christin-Maitre, C. Ajzenberg, Laurence Amar, Michel Peuchmaur, Christel Jublanc, E. Deflorenne, and Marie-Laure Raffin-Sanson

Subjects
Endocrinology, Endocrinology, Diabetes and Metabolism, General Medicine
Abstract

Introduction Le ganglioneurome (GN) est une tumeur neuroblastique differenciee, rare, issue du systeme nerveux sympathique peripherique. Il se developpe aux depens de la glande surrenale dans 20 a 25 % des cas. L’objectif de cette etude est de caracteriser les GN surrenaliens et d’etudier le risque de recidive apres chirurgie. Materiel/patients et methodes Etude retrospective multicentrique des cas de GN surrenaliens dans 20 centres francais appartenant au reseau COMETE et un centre belge. Resultats Parmi les 106 cas recenses, 60,4 % sont des femmes (N = 64/106), l’âge median au diagnostic est de 29 ans avec 25 cas pediatriques. 60,4 % (N = 64/106) des GN sont des incidentalomes. Les tumeurs ne secretent pas dans 90 % des cas (N = 90/100), le bilan hormonal preoperatoire est douteux pour 10 % des patients (N = 10/100). Au niveau radiologique, ce sont des tumeurs de grande taille (mediane a 50 mm) avec une densite spontanee > 10 UH dans 98 % des cas (N = 54/55) et des calcifications dans 65,3 % des cas (N = 32/49). Un hypermetabolisme en scintigraphie 123I-MIBG et en TEP 18FDG est retrouve dans respectivement 25,8 % (N = 8/31) et 41,3 % (N = 19/46) des tumeurs. 104 patients ont ete operes. Parmi les 42 patients ayant eu un suivi d’imagerie de plus de 3 mois (suivi moyen de 29,6 mois ; mediane 18 mois [4–156]), aucune recidive radiologique n’est retrouvee. Discussion Les GN surrenaliens sont des tumeurs de grande taille, classiquement non secretantes, ne possedant pas les caracteristiques radiologiques de benignite. Cependant, aucune recidive n’a ete identifiee dans notre cohorte. La revue des donnees de la litterature conforte l’absence de recidive post-operatoire.

Published
2020
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9. Positive Impact of Genetic Test on the Management and Outcome of Patients With Paraganglioma and/or Pheochromocytoma

Author

Lucile Offredo, Delphine Zenaty, Eric Baudin, Antoine Tabarin, Peggy Pierre, Alexandre Buffet, Anne-Paule Gimenez-Roqueplo, Philippe Herman, Igor Tauveron, Frédéric Chabolle, Judith Favier, Olivier Chabre, Laurence Amar, Christiane Ajzenberg, Rossella Libé, Yves Reznik, Brigitte Delemer, Bernard Goichot, Delphine Vezzosi, Laurene Ben Aim, Julien Hadoux, Delphine Drui, Vincent Darrouzet, Sandrine Laboureau, Sophie Leboulleux, Isabelle Raingeard, Jean-Louis Sadoul, Daniele Bernardeschi, Annabelle Esvant, Bertrand Cariou, Hervé Lefebvre, Jérôme Bertherat, Rachel Desailloud, Paris-Centre de Recherche Cardiovasculaire (PARCC (UMR_S 970/ U970)), Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), Médecine nucléaire, Département d'imagerie médicale [Gustave Roussy], Institut Gustave Roussy (IGR)-Institut Gustave Roussy (IGR), Centre hospitalier universitaire de Nantes (CHU Nantes), CHU Toulouse [Toulouse], Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hôpital Henri Mondor, CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hôpital Foch [Suresnes], Centre Hospitalier Universitaire [Grenoble] (CHU), CHU de Bordeaux Pellegrin [Bordeaux], Centre Hospitalier Universitaire de Reims (CHU Reims), CHU Amiens-Picardie, Les Hôpitaux Universitaires de Strasbourg (HUS), CHU Pontchaillou [Rennes], Hôpital Lariboisière-Fernand-Widal [APHP], Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Différenciation et communication neuronale et neuroendocrine (DC2N), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Rouen, Normandie Université (NU), CHU Trousseau [Tours], Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Hôpital Lapeyronie [Montpellier] (CHU), CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN), Hôpital Archet 2 [Nice] (CHU), Université Paris-Saclay, CHU Bordeaux [Bordeaux], CHU Clermont-Ferrand, AP-HP Hôpital universitaire Robert-Debré [Paris], Université de Paris - UFR Pharmacie [Santé] (UP UFR Pharmacie), Université de Paris (UP), Paris-Centre de Recherche Cardiovasculaire (PARCC - UMR-S U970), Université Paris Descartes - Paris 5 (UPD5)-Hôpital Européen Georges Pompidou [APHP] (HEGP), Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Service d'Endocrinologie [Nantes], Service d'Endocrinologie (TOULOUSE - Endocrino), CHU Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Centre d'Information sur la Surdité et l'Implant Cochléaire [Paris] (CISIC), CHU Pitié-Salpêtrière [APHP], unité de recherche de l'institut du thorax UMR1087 UMR6291 (ITX), Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service d'oto-rhino-laryngologie, Hôpital Beaujon-Université Paris Diderot - Paris 7 (UPD7)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Service d'endocrinologie, CHU Grenoble-Hôpital Michallon, Service d'Endocrinologie - Diabète - Nutrition [Reims], Université de Reims Champagne-Ardenne (URCA)-Hôpital Robert Debré-Centre Hospitalier Universitaire de Reims (CHU Reims), Service d'Endocrinologie (AMIENS - Endocrino), Service de Médecine Interne, Endocrinologie et Nutrition [CHU Strasbourg], CHU Strasbourg-Les Hôpitaux Universitaires de Strasbourg (HUS), Biostatistique, Pharmacoépidémiologie et Mesures Subjectives en Santé, Institut Scientifique de Santé Publique [Belgique] - Scientific Institute of Public Health [Belgium] (WIV-ISP), Réseau International des Instituts Pasteur (RIIP), Département d'Endocrinologie, Diabète et Maladies Métaboliques [CHU Rouen], Normandie Université (NU)-Normandie Université (NU), Service d'Endocrinologie (TOURS - Endocrino), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Service Endocrinologie - Diabétologie [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), Service d'Endocrinologie (NICE - Endocrino), Centre Hospitalier Universitaire de Nice (CHU Nice), Université Paris Descartes - Faculté de Médecine (UPD5 Médecine), Université Paris Descartes - Paris 5 (UPD5), Service d'Endocrinologie (BORDEAUX - Endocrino), Génétique, Reproduction et Développement - Clermont Auvergne (GReD), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Clermont Auvergne (UCA)-Centre National de la Recherche Scientifique (CNRS), Service de pédiatrie générale, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7), Institut Gustave Roussy (IGR), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut Cochin (UMR_S567 / UMR 8104), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5), Institut Cochin (IC UM3 (UMR 8104 / U1016)), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Réhabilitation Chirurgicale mini-Invasive et Robotisée de l'Audition, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre d’Investigation Clinique de Nantes (CIC Nantes), Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Médecine Interne - Diabète et Maladies métaboliques [Hôpital Hautepierre-Strasbourg]], Hôpital de Hautepierre [Strasbourg], Laboratoire de Neurobiologie des Réseaux Sensorimoteurs (LNRS), Université Paris Diderot - Paris 7 (UPD7)-Université Paris Descartes - Paris 5 (UPD5), Service d'Endocrinologie (MONTPELLIER - Endocrino), Collège de France (CDF), Collège de France (CdF), Développement et évolution (DE), Université Paris-Sud - Paris 11 (UP11)-Centre National de la Recherche Scientifique (CNRS), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), 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)-Centre National de la Recherche Scientifique (CNRS)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7)-Hôpital Beaujon [AP-HP], Les Hôpitaux Universitaires de Strasbourg (HUS)-CHU Strasbourg, 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), Génétique, Reproduction et Développement (GReD), Centre National de la Recherche Scientifique (CNRS)-Université Clermont Auvergne [2017-2020] (UCA [2017-2020])-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-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], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Clermont Auvergne [2017-2020] (UCA [2017-2020])-Centre National de la Recherche Scientifique (CNRS), Service Endocrinologie, maladies métaboliques et nutrition [CHU Toulouse], Pôle Cardiovasculaire et Métabolique [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Unité de recherche de l'institut du thorax (ITX-lab), Hôpital Beaujon [AP-HP], and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7)

Subjects
Oncology, Male, SDHB, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Adrenal Gland Neoplasms, Aftercare, Kaplan-Meier Estimate, Biochemistry, Neoplasms, Multiple Primary, 0302 clinical medicine, Endocrinology, Paraganglioma, [SDV.BC.IC]Life Sciences [q-bio]/Cellular Biology/Cell Behavior [q-bio.CB], Child, ComputingMilieux_MISCELLANEOUS, medicine.diagnostic_test, Middle Aged, [SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, Prognosis, 3. Good health, Succinate Dehydrogenase, Survival Rate, Von Hippel-Lindau Tumor Suppressor Protein, 030220 oncology & carcinogenesis, Female, Adult, medicine.medical_specialty, Adolescent, 030209 endocrinology & metabolism, Context (language use), Pheochromocytoma, [SDV.BC]Life Sciences [q-bio]/Cellular Biology, 03 medical and health sciences, Young Adult, Germline mutation, Internal medicine, medicine, [SDV.MHEP.PHY]Life Sciences [q-bio]/Human health and pathology/Tissues and Organs [q-bio.TO], Humans, Genetic Testing, Germ-Line Mutation, Genetic testing, Aged, Retrospective Studies, business.industry, Biochemistry (medical), Retrospective cohort study, Genetic Status, medicine.disease, Lost to Follow-Up, SDHD, business, Follow-Up Studies
Abstract

International audience; OC5.1Positive impact of genetic test on the management and outcome of patients with paraganglioma and/or pheochromocytomaContextParagangliomas and pheochromocytomas (PPGL) are rare neuroendocrine tumors, characterized by a strong genetic component. Indeed, up to 40% of patients carry a germline mutation in a PPGL susceptibility gene. In accordance with the international recommendations, genotyping of PPGL susceptibility genes is therefore proposed to all patients with PPGL, but it has actually never beenshown whether the identification of a germline mutation in one PPGL susceptibility gene changes the outcome of mutation-carriers.ObjectiveOur objective was to evaluate how a positive genetic test impacts the management and outcome of propositus patients with PPGL carrying a germline mutation in one of the four major PPGL susceptibility genes (SDHB, SDHD, SDHC and VHL).DesignWe performed a multicentric retrospective study on 221 propositus carrying a SDHB, SDHD, SDHC or VHL germline mutation and followed in 24 French clinical centers of the Group of Endocrine Tumors and/or the COMETE network. Patients were divided into two groups: Genetic patients, who were informed of their genetic status within the year following the first PPGL diagnosis, and Historic patients who only benefited from the genetic test several years after initial PPGL diagnosis.ResultsCompared to Historic patients, Genetic patients had a better follow-up, with a higher number of examinations and a reduced number of patients lost to follow-up (9.6% versus 72%). During follow-up, smaller (18.7 mm versus 27.6, PZ0.0128) new PPGL and metastases as well as lower metastatic spread were observed in Genetic patients. Importantly, these differences were reversed in the Historic cohort after genetic testing. Genetic patients who developed metachronous metastases had a better 5-year survival than Historic ones (PZ0.0127).ConclusionAltogether our study clearly shows the positive impact of the identification of an SDHx or VHL mutation in the management, clinical outcome and survival of patients with PPGL. It reveals, for the first time, the clinical benefits of the practice of oncogenetics for patients with a rare cancer and strongly strengthens the recommendations of the Endocrine Society to consider PPGL genetic testingin all patients affected by PPGL.DOI: 10.1530/endoabs.63.OC5.1

Published
2019
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10. Signs and symptoms of acromegaly at diagnosis: the physician's and the patient's perspectives in the ACRO-POLIS study (vol 63, pg 120, 2019)

Author

Caron, Philippe, Brue, Thierry, Raverot, Gerald, Tabarin, Antoine, Cailleux, Anne, Delemer, Brigitte, Renoult, Peggy Pierre, Houchard, Aude, Elaraki, Fatine, Chanson, Philippe, Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Marseille Maladies Rares (MarMaRa), Aix Marseille Université (AMU), and Service d'endocrinologie, diabète, maladies métaboliques [Hôpital de la Conception - APHM]

Subjects
[SDV.GEN]Life Sciences [q-bio]/Genetics
Published
2019
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11. Analyse de la survie sans récidive des phéochromocytomes localement avancés : Première étude rétrospective du réseau COMETE et du Groupe des Tumeurs Endocrines (GTE)

Author

C. Do Cao, Eric Baudin, S. Laroche, Delphine Drui, F. Borson-Chazot, Julien Hadoux, S. Laboureau, Matthieu Faron, M. Batisse Lignier, Sophie Leboulleux, Ségolène Hescot, R. Libe, Charlotte Lussey-Lepoutre, G. Deniziaut, Livia Lamartina, Frederic Castinetti, Laurence Amar, S. Moog, Carole Guerin, Arnaud Jannin, Peggy Pierre, Delphine Vezzosi, Anne-Paule Gimenez-Roqueplo, and M.L. Raffin Sanson

Subjects
Endocrinology, Endocrinology, Diabetes and Metabolism, General Medicine
Abstract

Introduction Le pronostic des pheochromocytomes localement avances (PLA) est inconnu. L’objectif etait de caracteriser cette population et sa survie sans recidive (SSR). Patients et methodes Etude multicentrique retrospective des PLA definis par une rupture capsulaire et/ou une invasion vasculaire et/ou une invasion du tissu adipeux et/ou une adenopathie locoregionale au diagnostic sans metastases a distance. La SSR, les facteurs pronostiques de recidive, le traitement des metastases et la survie globale ont ete evalues. Resultats Parmi 950 patients avec pheochromocytomes, 55 PLA (61 % d’hommes, 28 % predisposes genetiquement, 84 % secretant) avec statut R0 apres chirurgie ont ete inclus dans 11 centres Francais avec un suivi median de 54 mois. Les caracteristiques histologiques etaient : 31 (56 %) ruptures capsulaires, 27 (49 %) invasions graisseuses, 6 (11 %) adenopathies locoregionales et 22 (40 %) invasions vasculaires. Douze patients (22 %, taux de rechute : 4,2/100 pers/an) ont recidive (recidive locale pour 2 patients, a distance pour 3 et globale pour 7 patients) et 4 (7 %) sont decedes. La mediane de SSR etait de 115 mois. La mediane de survie globale des patients avec recidive etait de 157 mois. Le Ki67 % > 2 et la taille superieure a 6,5 cm etaient des facteurs pronostics de recidive en analyse multivariee ; les genes de predisposition du cluster 1 et la secretion predominante de normetanephrine en analyse univariee. Conclusion Les PLA representent 6 % de la population des pheochromocytomes. Ils sont de comportement malin intermediaire entre les pheochromocytomes localises et metastatiques. Cette etude ouvre la voie a une classification pTNM des pheochromocytomes.

Published
2020
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12. Clinicopathological description of 43 oncocytic adrenocortical tumors: importance of Ki-67 in histoprognostic evaluation

Author

Delphine Vezzosi, Abir Al Ghuzlan, Delphine Drui, Matthieu Wargny, Sébastien Aubert, Sarra Smati, Olivier Chabre, Laurence Amar, Claire Briet, François Pattou, Rossella Libé, Martine Patey, Bertrand Cariou, Frédérique Tissier, Karine Renaudin, Nathalie Sturm, Jérôme Bertherat, Magalie Haissaguerre, Peggy Pierre, Mathilde Sibony, Jean Christophe Lifante, Claudine Berthozat, Emmanuelle Leteurtre, Christine Do Cao, Eric Baudin, Eric Mirallié, Service de Pathologie [CHU Nantes], Centre hospitalier universitaire de Nantes (CHU Nantes), unité de recherche de l'institut du thorax UMR1087 UMR6291 (ITX), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN), Centre d’Investigation Clinique de Nantes (CIC Nantes), Université de Nantes (UN)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre hospitalier universitaire de Nantes (CHU Nantes), Département de biologie et pathologie médicales [Gustave Roussy], Institut Gustave Roussy (IGR), Service de pathologie [CHU Lille], Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Centre de Recherche Jean-Pierre AUBERT Neurosciences et Cancer - U1172 Inserm - U837 (JPArc), Université Lille Nord de France (COMUE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille, Site de Recherche Intégrée en Cancérologie (SIRIC-ONCOLille), Université de Lille, Sciences et Technologies-Université de Lille, Sciences Humaines et Sociales-Centre Régional de Lutte contre le Cancer Oscar Lambret [Lille] (UNICANCER/Lille), Université Lille Nord de France (COMUE)-UNICANCER-Université Lille Nord de France (COMUE)-UNICANCER-Cancéropole Nord-Ouest-Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Laboratoire d’anatomie et cytologie pathologique, Hôpital Robert Debré, CHU de Reims, Service d'anatomie pathologique [CHU Tenon], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Tenon [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Département de Gastroentérologie et hépatologie, Université Joseph Fourier - Grenoble 1 (UJF)-CHU Grenoble-Hôpital Michallon, Centre Hospitalier Universitaire Grenoble Alpes (CHU Grenoble Alpes), Université Paris-Sorbonne (UP4), Service d'HYPERVASC [CHU HEGP), Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), Service d'Endocrinologie, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Centre de Référence pour les Maladies Rares, Université Grenoble Alpes - UFR Médecine (UGA UFRM), Université Grenoble Alpes [2016-2019] (UGA [2016-2019]), Service d'endocrinologie-diabétologie-nutrition [CHU Grenoble-Alpes], Service d’endocrinologie, diabétologie et maladies métaboliques [CHRU LIlle], Département d'endocrinologie - Bordeaux 2, Université Bordeaux Segalen - Bordeaux 2, Service d'Endocrinologie (TOURS - Endocrino), Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service d'Endocrinologie (TOULOUSE - Endocrino), CHU Toulouse [Toulouse], Centre Hospitalier Lyon Sud [CHU - HCL] (CHLS), Hospices Civils de Lyon (HCL), Service de Chirurgie Générale et Endocrinienne [Lyon], Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Health Service and Performance Research (HESPER), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon, Service de chirurgie générale et endocrinienne, Hôpital Claude Huriez [Lille], CHU Lille-CHU Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Service de Chirurgie Digestive et Endocrinienne [Nantes], Médecine nucléaire, Département d'imagerie médicale [Gustave Roussy], Institut Gustave Roussy (IGR)-Institut Gustave Roussy (IGR), Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut Cochin (IC UM3 (UMR 8104 / U1016)), Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris Descartes - Paris 5 (UPD5), Service d'Endocrinologie [Nantes], Unité de recherche de l'institut du thorax (ITX-lab), Centre de Recherche Jean-Pierre AUBERT Neurosciences et Cancer - U837 (JPArc), Université de Lille-UNICANCER-Université de Lille-UNICANCER-Cancéropole Nord-Ouest-Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), CHU Tenon [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre Hospitalier Universitaire [Grenoble] (CHU), MitoVasc - Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), Service Endocrinologie, maladies métaboliques et nutrition [CHU Toulouse], Pôle Cardiovasculaire et Métabolique [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), and Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Lille Nord de France (COMUE)-Université de Lille

Subjects
0301 basic medicine, Oncology, Adult, Male, medicine.medical_specialty, Pathology, Proliferation index, Adenoma, [SDV]Life Sciences [q-bio], Malignancy, Pathology and Forensic Medicine, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Carcinoma, Biomarkers, Tumor, Adenoma, Oxyphilic, Humans, Stage (cooking), Retrospective Studies, biology, business.industry, Retrospective cohort study, Middle Aged, medicine.disease, Prognosis, Adrenal Cortex Neoplasms, 3. Good health, 030104 developmental biology, Ki-67 Antigen, 030220 oncology & carcinogenesis, Ki-67, Cohort, biology.protein, Female, business
Abstract

International audience; Oncocytic adrenocortical tumors are a rare subtype of adrenal tumors with challenging diagnosis and histoprognostic assessment. It is usually believed that oncocytic adrenocortical tumors have a more indolent clinical behavior than conventional adrenocortical tumors. As the Weiss score overestimates the malignancy of oncocytic adrenocortical tumors owing to intrinsic parameters, alternative scores have been proposed. The Lin-Weiss-Bisceglia score is currently recommended. We performed a large nationwide multicenter retrospective clinicopathologic study of oncocytic adrenocortical tumors. Among the 43 patients in our cohort, 40 patients were alive without disease, 2 patients died of their disease and 1 patient was alive with relapse after a median follow-up of 38 months (20-59). Our data revealed that over 50% of the oncocytic adrenocortical tumor cases were diagnosed as carcinoma whatever the classification systems used, including the Lin-Weiss-Bisceglia score. The exception is the Helsinki score, which incorporates the Ki-67 proliferation index and was the most specific prognostic score for oncocytic adrenocortical tumor malignancy without showing a loss in sensitivity. A comparison of malignant oncocytic adrenocortical tumors with conventional adrenocortical carcinomas matched for age, sex, ENS@T stage and surgical resection status showed significant better overall survival of malignant oncocytic adrenocortical tumors.

Published
2018
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16. Low specificity of urinary 3-methoxytyramine in screening of dopamine-secreting pheochromocytomas and paragangliomas

Author

Caroline Vayne, Thomas Francia, Hélène Blasco, Christian R. Andres, Peggy Pierre, Patrick Vourc'h, Clément Bruno, Franck Patin, Lise Crinière, Isabelle Benz-de Bretagne, and Sandra Kassem

Subjects
medicine.medical_specialty, Urinary system, Dopamine, Clinical Biochemistry, Adrenal Gland Neoplasms, 030209 endocrinology & metabolism, Urine, Pheochromocytoma, Gastroenterology, Paraganglioma, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Internal medicine, medicine, 3-Methoxytyramine, Humans, Dopamine-Secreting, Retrospective Studies, Creatinine, business.industry, General Medicine, medicine.disease, Endocrinology, chemistry, 030220 oncology & carcinogenesis, Biomarker (medicine), business
Abstract

Among the urinary compounds measured in screening for pheochromocytomas and paragangliomas (PPGL), 3-methoxytyramine (3-MT) has a controversial place. In this study, we therefore aimed to assess the diagnostic value of an isolated elevated urinary 3-MT concentration. We collected clinical data from patients with an isolated elevated level of 3-MT/creatinine (3-MT/Cr) and from control subjects, without elevated 3-MT/Cr levels. Among 64 patients with an isolated elevation of 3-MT/Cr and 66 controls, 7 patients had PPGL compared to 8 controls. There was no difference in 3-MT/Cr values between the different types of tumor diagnosed. This study suggests that an elevated urinary 3-MT/Cr level is not specifically associated with dopamine-secreting PPGL. and may therefore have little value in PPGL screening.

Published
2016

17. Adrenal rest tissue in gonads of patients with classical congenital adrenal hyperplasia: Multicenter study of 45 French male patients

Author

E. Sonnet, F. Despert, Dominique Delavierre, Sabine Baron, Véronique Kerlan, F Tranquart, Yannick Lorcy, Françoise Monceaux, P. Lecomte, Véronique Tardy, Philippe Emy, Peggy Pierre, Yves Morel, Régis Coutant, Service d'Endocrinologie (TOURS - Endocrino), Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Unité d'Endocrinologie Pédiatrique (TOURS - Endocrino Pédia), Service de Radiologie (TOURS - Radio), Endocrinologie pédiatrique[CHU 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), Département de Biochimie et Biologie moléculaire (CBPE), Hospices Civils de Lyon (HCL), Groupe d'Etude de la Thrombose de Bretagne Occidentale (GETBO), Université de Brest (UBO)-Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO)-Université de Brest (UBO), Service d'Endocrinologie (CHRU - Endocrino), Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Endocrinologie Pédiatrique (ORLEANS - Endocrino Pédiatrique), and Centre Hospitalier Régional d'Orléans (CHRO)

Subjects
Male, MESH: Adrenal Hyperplasia, Congenital, [SDV]Life Sciences [q-bio], Endocrinology, Diabetes and Metabolism, Physiology, 0302 clinical medicine, Endocrinology, MESH: Adrenal Rest Tumor, MESH: Child, Prevalence, Medicine, Young adult, Child, Testosterone, Ultrasonography, MESH: Testicular Neoplasms, education.field_of_study, medicine.diagnostic_test, General Medicine, 3. Good health, MESH: Young Adult, Child, Preschool, 030220 oncology & carcinogenesis, France, Adult, medicine.medical_specialty, Adolescent, Urology, Population, 030209 endocrinology & metabolism, Physical examination, Semen analysis, Young Adult, 03 medical and health sciences, Testicular Neoplasms, Adrenal Rest Tumor, Humans, Congenital adrenal hyperplasia, education, MESH: Prevalence, Retrospective Studies, MESH: Adolescent, Gynecology, MESH: Humans, Adrenal Hyperplasia, Congenital, business.industry, MESH: Child, Preschool, Adrenal rest, MESH: Retrospective Studies, MESH: Adult, Retrospective cohort study, medicine.disease, MESH: Male, Semen Analysis, MESH: France, Multicenter study, Male patient, MESH: Semen Analysis, business
Abstract

International audience; OBJECTIVES: Several cases of testicular adrenal rest tumours have been reported in men with congenital adrenal hyperplasia (CAH) due to the classical form of 21-hydroxylase deficiency but the prevalence has not been established. The aims of this report were to evaluate the frequency of testicular adrenal rest tissue in this population in a retrospective multicentre study involving eight endocrinology centres, and to determine whether treatment or genetic background had an impact on the occurrence of adrenal rest tissue. MATERIAL AND METHODS: Testicular adrenal rest tissue (TART) was sought clinically and with ultrasound examination in forty-five males with CAH due to the classical form of 21-hydroxylase deficiency. When the diagnosis of testicular adrenal rest tumours was sought, good observance of treatment was judged on biological concentrations of 17-hydroxyprogesterone (17OHP), delta4-androstenedione, active renin and testosterone. The results of affected and non-affected subjects were compared. RESULTS: TART was detected in none of the 18 subjects aged 1 to 15years but was detected in 14 of the 27 subjects aged more than 15years. Five patients with an abnormal echography result had no clinical signs. Therapeutic control evaluated at diagnosis of TART seemed less effective when diagnosis was made in patients with adrenal rest tissue compared to TART-free subjects. Various genotypes were observed in patients with or without TART. CONCLUSION: Due to the high prevalence of TART in classical CAH and the delayed clinical diagnosis, testicular ultrasonography must be performed before puberty and thereafter regularly during adulthood even if the clinical examination is normal.

Published
2012
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18. Correction to: Signs and symptoms of acromegaly at diagnosis: the physician’s and the patient’s perspectives in the ACRO-POLIS study

Author

Aude Houchard, Fatine Elaraki, Thierry Brue, Brigitte Delemer, Gérald Raverot, Philippe Caron, Philippe Chanson, Antoine Tabarin, Anne Cailleux, and Peggy Pierre Renoult

Subjects
Adult, Male, medicine.medical_specialty, Delayed Diagnosis, Patients, Endocrinology, Diabetes and Metabolism, Section (typography), 030209 endocrinology & metabolism, Signs and symptoms, Mistake, Cubital Tunnel Syndrome, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Sex Factors, Physicians, Diagnosis, Acromegaly, Medicine, Humans, Age of Onset, Aged, business.industry, Foot, General surgery, Correction, Middle Aged, medicine.disease, Hand, Carpal Tunnel Syndrome, Multiple correspondence analysis, Sign-and-symptom association, Cross-Sectional Studies, Early Diagnosis, Socioeconomic Factors, 030220 oncology & carcinogenesis, Child, Preschool, Hypertension, Original Article, Female, France, business, Author name
Abstract

Purpose Acromegaly is characterized by a broad range of manifestations. Early diagnosis is key to treatment success, but is often delayed as symptomatology overlaps with common disorders. We investigated sign-and-symptom associations, demographics, and clinical characteristics at acromegaly diagnosis. Methods Observational, cross-sectional, multicenter non-interventional study conducted at 25 hospital departments in France that treat acromegaly (ClinicalTrials.gov: NCT02012127). Adults diagnosed with acromegaly

Published
2018

20. Ovarian macrocysts and gonadotrope-ovarian axis disruption in premenopausal women receiving mitotane for adrenocortical carcinoma or Cushing's disease

Author

Anne Bachelot, Lise Crinière, Martin Schlumberger, Philippe Touraine, Dominique Maiter, Christine Do Cao, Valérie Bernard, Céline Droumaguet, Sophie Leboulleux, Pietro Santulli, Hélène Bry-Gauillard, Sylvie Salenave, Eric Baudin, Laurence Guignat, Peggy Pierre, Jacques Young, Philippe Chanson, UCL - SSS/IREC/EDIN - Pôle d'endocrinologie, diabète et nutrition, and UCL - (SLuc) Service d'endocrinologie et de nutrition

Subjects
Adult, medicine.medical_specialty, Adolescent, Antineoplastic Agents, Hormonal, Endocrinology, Diabetes and Metabolism, Population, Context (language use), Endocrinology, Sex hormone-binding globulin, Internal medicine, Follicular phase, Adrenocortical Carcinoma, Medicine, Adrenocortical carcinoma, Humans, Mitotane, education, Pituitary ACTH Hypersecretion, Retrospective Studies, education.field_of_study, biology, business.industry, Ovary, Ovarian torsion, General Medicine, Cushing's disease, Middle Aged, medicine.disease, Ovarian Cysts, Premenopause, biology.protein, Female, business, Biomarkers, Gonadotropins, medicine.drug
Abstract

ContextMitotane is an adrenolytic and anticortisolic drug used in adrenocortical carcinoma (ACC), Cushing's disease (CD), and ectopic ACTH syndrome. Its effects on the ovaries are unknown.ObjectiveTo evaluate the ovarian and gonadotrope effects of mitotane therapy in premenopausal women.PatientsWe studied 21 premenopausal women (ACC: n=13; CD: n=8; median age 33 years, range 18–45 years) receiving mitotane at a median initial dose of 3 g/day (range 1.5–6 g/day).MethodsGynecological history was collected and ovarian ultrasound was performed. Four women also underwent ovarian CT or magnetic resonance imaging. Serum gonadotropin, estradiol (E2), androgens, sex hormone-binding globulin (SHBG), and circulating mitotane levels were determined at diagnosis and during mitotane therapy.ResultsIn the women included, ovarian macrocysts (bilateral in 51%) were detected after a median 11 months (range: 3–36) of mitotane exposure. The median number of macrocysts per woman was two (range: 1–4) and the median diameter of the largest cysts was 50 mm (range: 26–90). Menstrual irregularities and/or pelvic pain were present in 15 out of 21 women at macrocyst diagnosis. In two women, the macrocysts were revealed by complications (ovarian torsion and hemorrhagic macrocyst rupture) that required surgery. Mitotane therapy was associated with a significant decrease in androstenedione and testosterone levels and a significant increase in LH levels. Serum FSH and E2 levels were also increased, and SHBG levels rose markedly.ConclusionsMitotane therapy causes significant morphological and ovarian/gonadotrope hormonal abnormalities in premenopausal women. Follicular thecal steroid synthesis appears to be specifically altered and the subsequent increase in gonadotropins might explain the development of macrocysts. The mechanisms underlying these adverse effects, whose exact prevalence in this population still needs to be determined, are discussed.

Published
2015

22. Syndrome de Netherton : évaluation des axes antéhypophysaires – étude REHYNE

Author

X. Piguel, E. Hainaut, A. Laroussinie, Delphine Drui, E. Sonnet, Peggy Pierre, S. Barbarot, Samy Hadjadj, and M. Tauber

Subjects
Endocrinology, Endocrinology, Diabetes and Metabolism, General Medicine
Abstract

Introduction Le syndrome de Netherton (SN), maladie rare (incidence 1/200 000 naissances), presente une triade (erythrodermie ichtyosiforme congenitale, trichorrhexie invaginata, atopie) ainsi qu’un retard staturo-ponderal. Autosomique, recessive, la mutation de SPINK5 (5q31–q32) codant pour « the lymphoepithelial Kazal-type-related inhibitor » (LEKTI) entraine une augmentation d’hormone de croissance (hGH) inactive. Ce retard statural n’est pas un deficit mais une inactivation hormonale. Objectif Faire une description phenotypique hypophysaire clinique et biologique du SN et proposer une prise en charge. Materiels et methodes Dans les centres hospitaliers universitaires de Brest, Nantes, Poitiers, Tours et Toulouse, les SN ayant beneficie d’une exploration endocrinologique (entre 1990 et 2015) ont ete collecte avec des donnees demographiques, anamnestiques, cliniques, paracliniques, genetiques et un test dynamique de l’axe somatotrope. Resultats Nous avons 7 cas (1 femme, 6 hommes) de 2 a 72 ans. La taille finale est a la moyenne et proche de la taille cible. Pour les patients en croissance, corrigee a l’âge osseux la taille est entre −1,2 et +0,2 DS versus −4DS et −4,6DS en realite. Les hypophysiogrammes revelent une hypothyroidie centrale, deux retards pubertaires a fonction sertolienne normale, trois insuffisances corticotropes sous dermocorticoides. Les tests de stimulation de la GH sont majoritairement normaux avec des IGF1 basses. Il existerait un lien genotype–phenotype. Les patients les moins severes sur le plan endocrinologique (taille finale normale et puberte spontanee) presentent moins d’elements pathognomoniques. Conclusion Nous preconisons donc cinq axes de soins : dermatologique, endocrinologique (surveillance thyroidienne, supplementation en hGH a 0,030 mg/kg/j, induction pubertaire), allergologique, genetique et biologique.

Published
2016
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23. MAX Mutations Cause Hereditary and Sporadic Pheochromocytoma and Paraganglioma

Author

Patricia L. M. Dahia, Maurizio Castellano, Nicole Reisch, Carli M. J. Tops, N. Abermil, Marta Barontini, Graeme Eisenhofer, Sandra Bernaldo de Quirós, Salud Borrego, Álvaro Gómez-Graña, Nelly Burnichon, M. Giacchè, Mercedes Robledo, Emiliano Honrado, Giuseppe Opocher, Francesca Schiavi, Xavier Girerd, Elena Rapizzi, Lucía Inglada-Pérez, Esther Korpershoek, Henri J L M Timmers, Massimo Mannelli, Encarna B. Gomez-Garcia, Elisa Taschin, María-Dolores Chiara, Sara Bobisse, Alberto Cascón, Peggy Pierre, Carlos Suárez, Alexander P.A. Stegmann, Arjen R. Mensenkamp, Felix Beuschlein, Luigi Mori, Iñaki Comino-Méndez, Marinus J. Blok, Laurence Amar, Arnaud Murat, Macarena Ruiz-Ferrer, Ronald R. de Krijger, F Schillo, Frederik J. Hes, Karel Pacak, Nicole Paes Morales, Tonino Ercolino, Jacques W.M. Lenders, Rocío Letón, Miguel Urioste, Eleonora P M Corssmit, Isabelle Guilhem, Nan Qin, Anne-Paule Gimenez-Roqueplo, Giovanna Roncador, Pierre-François Plouin, Tamara Prodanov, Yves-Jean Bignon, Victoria M. Raymond, Jérôme Bertherat, Miguel Quesada-Charneco, Anna Merlo, Aguirre A. de Cubas, Philippe Chanson, Paris-Centre de Recherche Cardiovasculaire (PARCC - UMR-S U970), Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de génétique [CHU HEGP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), Université Paris Descartes - Paris 5 (UPD5), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), Centro de Investigaciones Endocrinológicas, Hospital de Niños R. Gutiérrez, Service d'Endocrinologie, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Centre de Référence pour les Maladies Rares, Laboratoire de diagnostic génétique et moléculaire, Centre Jean Perrin [Clermont-Ferrand] (UNICANCER/CJP), UNICANCER-UNICANCER, Equipe de recherche sur les traitements individualisés des cancers (ERTICa), Université d'Auvergne - Clermont-Ferrand I (UdA), Clinical Genetics, Maastricht University Medical Centre (MUMC), Maastricht University [Maastricht]-Maastricht University [Maastricht], School for Oncology & Developmental Biology (GROW), Department of Genetics, Reproduction and Fetal Medicine, Universidad de Sevilla / University of Sevilla-Institute of Biomedicine of Seville (IBIS)-Hospital Universitario Virgen del Rocío [Sevilla], Centre for Biomedical Network Research on Rare Diseases (CIBERER), Récepteurs stéroïdiens : physiopathologie endocrinienne et métabolique, Université Paris-Sud - Paris 11 (UP11)-IFR93-Institut National de la Santé et de la Recherche Médicale (INSERM), Departments of Pathology, Erasmus University Medical Center [Rotterdam] (Erasmus MC), Centre Hospitalier Universitaire [Rennes], Laboratoire de Neurosciences Cognitives [Marseille] (LNC), Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Beijing Genomics Institute [Shenzhen] (BGI), Monoclonal antibodies unit, Centro Nacional de Investigaciones Oncológicas, Group of Human Genetics, Spanish National Cancer Research Center (CNIO), Familial Cancer Clinic, Veneto Institute of Oncology, IRCCS & Department of Medical and Surgical Sciences, Università degli Studi di Padova = University of Padua (Unipd), Carl Gustav Carus University Hospital, Hereditary Endocrine Cancer Group, Human Cancer Genetics Programme, MUMC+: DA KG Lab Centraal Lab (9), Klinische Genetica, Genetica & Celbiologie, RS: GROW - School for Oncology and Reproduction, Université Paris Descartes - Paris 5 (UPD5)-Hôpital Européen Georges Pompidou [APHP] (HEGP), Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Européen Georges Pompidou [APHP] (HEGP), Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Cochin [AP-HP]-Centre de Référence pour les Maladies Rares, Centre Jean Perrin, Maastricht University Medical Center (MUMC), Universidad de Sevilla-Hospital Universitario Virgen del Rocío [Sevilla]-Institute of Biomedicine of Seville (IBIS), Human Cancer Genetics Program, Spanish National Cancer Centre (CNIO), Universita degli Studi di Padova, Centro Nacional de Investigaciones Oncológicas, CNIO, Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR93-Université Paris-Sud - Paris 11 (UP11), Centre National de la Recherche Scientifique (CNRS)-Aix Marseille Université (AMU), Pathology, Pediatrics, Clinical sciences, Medical Genetics, Paris-Centre de Recherche Cardiovasculaire ( PARCC - U970 ), Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Hôpital Européen Georges Pompidou [APHP] ( HEGP ), Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Européen Georges Pompidou [APHP] ( HEGP ), Université Paris Descartes - Paris 5 ( UPD5 ), Hôpital Européen Georges Pompidou [APHP] ( HEGP ), Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Cochin [AP-HP]-Centre de Référence pour les Maladies Rares, Equipe de recherche sur les traitements individualisés des cancers ( ERTICa ), Université d'Auvergne - Clermont-Ferrand I ( UdA ), Maastricht University Medical Center (MUMC+), Universidad de Sevilla-University Hospital Virgen del Rocio-Institute of Biomedicine of Seville (IBIS), Université Paris-Sud - Paris 11 ( UP11 ) -IFR93-Institut National de la Santé et de la Recherche Médicale ( INSERM ), Erasmus MC-University Medical Center, Laboratoire de Neurosciences Cognitives [Marseille] ( LNC ), Aix Marseille Université ( AMU ) -Centre National de la Recherche Scientifique ( CNRS ), Beijing Genomics Institute [Shenzhen] ( BGI ), and Beijing Genomics Institute

Subjects
Male, Pheochromocytoma, Genetics, Cancer Research, Basic Helix-Loop-Helix Leucine Zipper Transcription Factors/genetics, MESH : Germ-Line Mutation, Somatic cell, MESH: Basic Helix-Loop-Helix Leucine Zipper Transcription Factors, MESH : Aged, Adrenal Gland Neoplasms, MESH : Child, Preschool, medicine.disease_cause, Germline, MESH : Pheochromocytoma, 0302 clinical medicine, MESH: Aged, 80 and over, MESH : Child, Paraganglioma, MESH: Child, MESH: Germ-Line Mutation, MESH : Female, Child, Aged, 80 and over, MESH: Aged, 0303 health sciences, Mutation, MESH: Middle Aged, Cardiovascular diseases [NCEBP 14], Basic Helix-Loop-Helix Leucine Zipper Transcription Factors, MESH: Genetic Predisposition to Disease, MESH : Adult, Middle Aged, MESH : Paraganglioma, Phenotype, 3. Good health, Oncology, MESH: Young Adult, 030220 oncology & carcinogenesis, Child, Preschool, Female, MESH : Basic Helix-Loop-Helix Leucine Zipper Transcription Factors, Adult, MESH: Paraganglioma, Adolescent, MESH : Adrenal Gland Neoplasms, MESH : Male, MESH : Young Adult, Biology, 03 medical and health sciences, Young Adult, Germline mutation, SDG 3 - Good Health and Well-being, MESH : Adolescent, [ SDV.MHEP ] Life Sciences [q-bio]/Human health and pathology, medicine, Adrenal Gland Neoplasms/genetics, Humans, MESH : Middle Aged, Genetic Predisposition to Disease, MESH: Pheochromocytoma, MESH : Aged, 80 and over, Germ-Line Mutation, 030304 developmental biology, Aged, MESH: Adolescent, MESH: Humans, Paraganglioma/genetics, Genetic heterogeneity, Translational research Genomic disorders and inherited multi-system disorders [ONCOL 3], MESH : Humans, Hormonal regulation [IGMD 6], MESH: Child, Preschool, MESH: Adult, medicine.disease, MESH: Adrenal Gland Neoplasms, MESH: Male, Pheochromocytoma/genetics, Cancer research, MESH : Genetic Predisposition to Disease, MESH: Female, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract

11 pages, 2 figures, 2 tables.-- Burnichón, Nelly et al., Purpose: Pheochromocytomas (PCC) and paragangliomas (PGL) are genetically heterogeneous neural crest-derived neoplasms. Recently we identified germline mutations in a new tumor suppressor susceptibility gene, MAX (MYC-associated factor X), which predisposes carriers to PCC. How MAX mutations contribute to PCC/PGL and associated phenotypes remain unclear. This study aimed to examine the prevalence and associated phenotypic features of germline and somatic MAX mutations in PCC/PGL., Design: We sequenced MAX in 1,694 patients with PCC or PGL (without mutations in other major susceptibility genes) from 17 independent referral centers. We screened for large deletions/duplications in 1,535 patients using a multiplex PCR-based method. Somatic mutations were searched for in tumors from an additional 245 patients. The frequency and type of MAX mutation was assessed overall and by clinical characteristics., Results: Sixteen MAX pathogenic mutations were identified in 23 index patients. All had adrenal tumors, including 13 bilateral or multiple PCCs within the same gland (P < 0.001), 15.8% developed additional tumors at thoracoabdominal sites, and 37% had familial antecedents. Age at diagnosis was lower (P = 0.001) in MAX mutation carriers compared with nonmutated cases. Two patients (10.5%) developed metastatic disease. A mutation affecting MAX was found in five tumors, four of them confirmed as somatic (1.65%). MAX tumors were characterized by substantial increases in normetanephrine, associated with normal or minor increases in metanephrine., Conclusions: Germline mutations in MAX are responsible for 1.12% of PCC/PGL in patients without evidence of other known mutations and should be considered in the genetic work-up of these patients. ©2012 AACR.

Published
2012
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24. A novel mutation in the calcium-sensing receptor in a French family with familial hypocalciuric hypercalcaemia

Author

Pierre Lecomte, Xavier Jeunemaitre, Serge Guyétant, Abdallah Al-Salameh, Carmen Vulpoi, Elena Pardi, Loïc de Calan, Peggy Pierre, and Filomena Cetani

Subjects
Adult, Male, medicine.medical_specialty, Hypercalcaemia, Endocrinology, Diabetes and Metabolism, Mutant, Molecular Sequence Data, chemistry.chemical_element, Biology, Calcium, medicine.disease_cause, Transfection, Models, Biological, Exon, Endocrinology, Internal medicine, Chlorocebus aethiops, medicine, Animals, Humans, Family, Amino Acid Sequence, Receptor, Mutation, General Medicine, medicine.disease, Pedigree, chemistry, COS Cells, Hypercalcemia, Female, France, Calcium-sensing receptor, Receptors, Calcium-Sensing
Abstract

ObjectiveThe calcium-sensing receptor (CASR) has an important role in calcium homoeostasis by controlling PTH secretion and renal calcium handling. Inactivating mutations in the CASR gene (HGNC ID: 1514) cause familial hypocalciuric hypercalcaemia (FHH). We present a case of FHH patient to describe a novel mutation in the CASR.Subjects and methodsA 34-year-old patient was referred because of recurrent hypercalcaemia after resection of two hyperplastic parathyroids. Extensive evaluation found elevated PTH and low calcium/creatinine clearance ratio. One of her three children had high serum calcium concentrations. Genetic studies were performed by PCR amplification of CASR coding exons and direct sequencing of PCR products. Transient transfection of the wild-type (WT) CASR and the mutant CASR into COS-7 was performed to assess functional impact of the mutation and the capacity of either protein to mediate increases in cellular levels of inositol phosphates (IPs).ResultsCASR sequencing found a previously undescribed heterozygous base substitution, determining a change of threonine to isoleucine at codon 550 (p.T550I) in the sixth exon. In contrast to those transfected with WT CASR, which showed a five- to eightfold increase in total IPs at high levels of calcium, COS-7 cells transfected with the (p.T550I) mutant showed no increase confirming to the inactivating nature of the mutation. COS-7 cells co-transfected with the WT and the (p.T550I) mutant showed an intermediate response suggesting a possible dominant negative effect.ConclusionThis case report presents a not-yet-described mutation in the cysteine-rich region of the CASR extracellular domain, a mutation with a possible dominant negative effect.

Published
2011

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