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1. Highly sensitive methods are required to detect mutations in histiocytoses

Author

Sarah Melloul, Zofia Hélias-Rodzewicz, Fleur Cohen-Aubart, Frédéric Charlotte, Sylvie Fraitag, Nathalie Terrones, Quentin Riller, Thibaud Chazal, Sébastien Héritier, Anne Moreau, Marianne Kambouchner, Marie Christine Copin, Jean Donadieu, Valérie Taly, Zahir Amoura, Julien Haroche, and Jean François Emile

Subjects
Diseases of the blood and blood-forming organs, RC633-647.5
Published
2019
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2. Highly sensitive methods are required to detect mutations in histiocytoses

Author

Quentin Riller, Valérie Taly, Sylvie Fraitag, Fleur Cohen-Aubart, Jean-François Emile, Zofia Hélias-Rodzewicz, Jean Donadieu, Marie Christine Copin, Zahir Amoura, T. Chazal, Marianne Kambouchner, Julien Haroche, Sarah Melloul, Sébastien Héritier, Nathalie Terrones, Anne Moreau, Frédéric Charlotte, Biomarqueurs et essais cliniques en Cancérologie et Onco-Hématologie (BECCOH), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Saclay, Service de pathologie [CHU Ambroise Paré], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Ambroise Paré [AP-HP], Service de médecine interne [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), CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université Pierre et Marie Curie - Paris 6 (UPMC), Service de pathologie [CHU Pitié-Salpêtrière], Université Paris Descartes - Paris 5 (UPD5), Service de pathologie [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), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Anatomo-cyto-pathologie [Hôtel-Dieu, Nantes], Hôtel-Dieu de Nantes, Service de Pathologie [Hôpital Avicenne - APHP], Hôpital Avicenne [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Médecine Personnalisée, Pharmacogénomique, Optimisation Thérapeutique (MEPPOT - U1147), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), SM received a fellowship from the Fondation pour la Recherche Médicale (FRM DEA20170637843). The study was supported by grants from the Association pour la Recherche et l'Enseignement en Pathologie (AREP)., Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Service d'Anatomie et cytologie pathologiques = Service de Pathologie [CHU Pitié-Salpêtrière] (ACP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), and TALY, Valerie

Subjects
[SDV]Life Sciences [q-bio], DNA Mutational Analysis, [SDV.CAN]Life Sciences [q-bio]/Cancer, Sensitivity and Specificity, 03 medical and health sciences, 0302 clinical medicine, [SDV.CAN] Life Sciences [q-bio]/Cancer, [SDV.BBM] Life Sciences [q-bio]/Biochemistry, Molecular Biology, Humans, Medicine, Genetic Predisposition to Disease, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, Online Only Articles, ComputingMilieux_MISCELLANEOUS, 030304 developmental biology, 0303 health sciences, business.industry, Reproducibility of Results, Hematology, Highly sensitive, [SDV] Life Sciences [q-bio], 030220 oncology & carcinogenesis, Histiocytoses, Mutation, Mutation (genetic algorithm), Cancer research, business, Histiocytosis, Biomarkers
Abstract

International audience

Published
2019

3. Variation of mutant allele frequency in NRAS Q61 mutated melanomas

Author

Zofia Hélias-Rodzewicz, Elisa Funck-Brentano, Nathalie Terrones, Alain Beauchet, Ute Zimmermann, Cristi Marin, Philippe Saiag, and Jean-François Emile

Subjects
Adult, Aged, 80 and over, Chromosome Aberrations, Male, WT allele loss, Skin Neoplasms, DNA Copy Number Variations, Pyrosequencing, Membrane Proteins, Kaplan-Meier Estimate, lcsh:RL1-803, Middle Aged, GTP Phosphohydrolases, Imbalance, Gene Frequency, Chromosomes, Human, Pair 1, Mutation, lcsh:Dermatology, Humans, Female, Melanoma, M%NRAS, Research Article, Aged, Retrospective Studies
Abstract

Background Somatic mutations of BRAF or NRAS activating the MAP kinase cell signaling pathway are present in 70% of cutaneous melanomas. The mutant allele frequency of BRAF V600E (M%BRAF) was recently shown to be highly heterogeneous in melanomas. The present study focuses on the NRAS Q61 mutant allele frequency (M%NRAS). Methods Retrospective quantitative analyze of 104 NRAS mutated melanomas was performed using pyrosequencing. Mechanisms of M%NRAS imbalance were studied by fluorescence in situ hybridization (FISH) and microsatellite analysis. Results M%NRAS was increased in 27.9% of cases. FISH revealed that chromosome 1 instability was the predominant mechanism of M%NRAS increase, with chromosome 1 polysomy observed in 28.6% of cases and intra-tumor cellular heterogeneity with copy number variations of chromosome 1/NRAS in 23.8%. Acquired copy-neutral loss of heterozygosity (LOH) was less frequent (19%). However, most samples with high M%NRAS had only one copy of NRAS locus surrounding regions suggesting a WT allele loss. Clinical characteristics and survival of patients with either

Published
2017

4. Circulating cell-free BRAF

Author

Sébastien, Héritier, Zofia, Hélias-Rodzewicz, Hélène, Lapillonne, Nathalie, Terrones, Sonia, Garrigou, Corinne, Normand, Mohamed-Aziz, Barkaoui, Jean, Miron, Geneviève, Plat, Nathalie, Aladjidi, Anne, Pagnier, Anne, Deville, Marion, Gillibert-Yvert, Despina, Moshous, Alain, Lefèvre-Utile, Anne, Lutun, Catherine, Paillard, Caroline, Thomas, Eric, Jeziorski, Philippe, Nizard, Valérie, Taly, Jean-François, Emile, and Jean, Donadieu

Subjects
Male, Proto-Oncogene Proteins B-raf, Sulfonamides, Indoles, Adolescent, Cell-Free System, Infant, Prognosis, Vinblastine, Histiocytosis, Langerhans-Cell, Vemurafenib, Child, Preschool, Mutation, Humans, Drug Therapy, Combination, Female, Drug Monitoring, Child, Glucocorticoids, Alleles, Biomarkers, Follow-Up Studies
Abstract

The BRAF

Published
2017

5. Detection of BRAF p.V600E Mutations in Melanomas

Author

U. Zimmermann, Andreas von Deimling, Frédérique Peschaud, Dominique Pechaud, Zofia Hélias-Rodzewicz, David Capper, Hélène Blons, Nathalie Terrones, Emeline Colomba, Jean-François Côté, Jean-François Emile, Cristi Marin, T. Clerici, Philippe Saiag, and Sylvie Surel

Subjects
Sanger sequencing, Genetics, Mutation, Melanoma, Pcr cloning, Biology, medicine.disease_cause, BRAF p.V600E, medicine.disease, Molecular biology, Pathology and Forensic Medicine, symbols.namesake, medicine, symbols, Molecular Medicine, Immunohistochemistry, Pyrosequencing, Vemurafenib, medicine.drug
Abstract

BRAF p.V600 mutation detection recently became necessary to treat metastatic melanoma patients with vemurafenib. This study compares different methods of detection of BRAF mutations. Melanoma samples from 111 patients were analyzed for BRAF mutations, and for 89 of them, results were obtained with the four following methods: Sanger sequencing, real-time PCR, immunohistochemistry, and pyrosequencing. All samples contained at least 60% of tumor cells. Directional Sanger sequencing of PCR products failed to detect 3 of 40 p.V600E-mutated cases (7.5%) (sensitivity, 92.5%; 95% CI, 78.5% to 98.0%). BRAF p.V600E-specific real-time PCR identified 39 of 40 p.V600E-mutated cases (97.6%) (sensitivity, 97.5%; 95% CI, 87.1% to 99.6%) and all 39 wild-type (WT) cases and surprisingly was also positive for 6/6 p.V600K (specificity, 87.8%; 95% CI, 75.8% to 94.3%). However, other mutations, p.V600R (n = 1), p.K601E (n = 2), and p.600_601delinsE (n = 1), were not detected. Immunohistochemistry with VE1, specific for p.V600E, identified all p.V600E and WT cases (sensitivity, 100%; 95% CI, 91.2% to 100%) but was negative for all other BRAF mutations. Pyrosequencing successfully identified all WT and mutated cases. Immunohistochemistry is highly specific for p.V600E, and could be used as a first-line method, as is currently performed for HER2 amplification detection. Pyrosequencing proved to be the most efficient method to detect BRAF mutations in melanomas and could be performed on VE1-negative or uninterpretable cases.

Published
2013

6. Frequent allelic imbalance in NRAS mutant melanomas

Author

Zofia Hélias-Rodzewicz, U. Zimmermann, Jean-François Emile, Nathalie Terrones, Elisa Funck-Brentano, and Philippe Saiag

Subjects
Neuroblastoma RAS viral oncogene homolog, Cancer Research, Polysomy, business.industry, Mutant allele, Mutant, Cancer, medicine.disease, Oncology, Allelic Imbalance, Cancer research, Medicine, business, neoplasms
Abstract

9578Background: We recently showed that 19% of BRAF mutant melanomas have an increased mutant allele percentage ( > 60%) (BMC Cancer 2015). This allelic imbalance was mainly related to a polysomy o...

Published
2016

7. Detection of BRAF p.V600E mutations in melanomas: comparison of four methods argues for sequential use of immunohistochemistry and pyrosequencing

Author

Emeline, Colomba, Zofia, Hélias-Rodzewicz, Andreas, Von Deimling, Cristi, Marin, Nathalie, Terrones, Dominique, Pechaud, Sylvie, Surel, Jean-François, Côté, Frédérique, Peschaud, David, Capper, Hélène, Blons, Ute, Zimmermann, Thierry, Clerici, Philippe, Saiag, and Jean-François, Emile

Subjects
Proto-Oncogene Proteins B-raf, Sulfonamides, Indoles, Vemurafenib, Receptor, ErbB-2, DNA Mutational Analysis, Mutation, Humans, Real-Time Polymerase Chain Reaction, Immunohistochemistry, Melanoma
Abstract

BRAF p.V600 mutation detection recently became necessary to treat metastatic melanoma patients with vemurafenib. This study compares different methods of detection of BRAF mutations. Melanoma samples from 111 patients were analyzed for BRAF mutations, and for 89 of them, results were obtained with the four following methods: Sanger sequencing, real-time PCR, immunohistochemistry, and pyrosequencing. All samples contained at least 60% of tumor cells. Directional Sanger sequencing of PCR products failed to detect 3 of 40 p.V600E-mutated cases (7.5%) (sensitivity, 92.5%; 95% CI, 78.5% to 98.0%). BRAF p.V600E-specific real-time PCR identified 39 of 40 p.V600E-mutated cases (97.6%) (sensitivity, 97.5%; 95% CI, 87.1% to 99.6%) and all 39 wild-type (WT) cases and surprisingly was also positive for 6/6 p.V600K (specificity, 87.8%; 95% CI, 75.8% to 94.3%). However, other mutations, p.V600R (n = 1), p.K601E (n = 2), and p.600_601delinsE (n = 1), were not detected. Immunohistochemistry with VE1, specific for p.V600E, identified all p.V600E and WT cases (sensitivity, 100%; 95% CI, 91.2% to 100%) but was negative for all other BRAF mutations. Pyrosequencing successfully identified all WT and mutated cases. Immunohistochemistry is highly specific for p.V600E, and could be used as a first-line method, as is currently performed for HER2 amplification detection. Pyrosequencing proved to be the most efficient method to detect BRAF mutations in melanomas and could be performed on VE1-negative or uninterpretable cases.

Published
2012

8. CARMN-NOTCH2 fusion transcript drives high NOTCH2 expression in glomus tumors of the upper digestive tract

Author

Janick Selves, Jean-François Emile, Marie Laure Raffin-Sanson, Benoǐt Terris, Chiara Villa, Nicolas Girard, Jérôme Cros, Catherine Julie, Jean François Fléjou, Zofia Hélias-Rodzewicz, Jean Michel Coindre, Christine Lagorce-Pages, Anne Sophie de Lajarte-Thirouard, Nathalie Guedj, Florence Renaud, Dominique Cazals-Hatem, Simon Martin de Beauce, Cristi Marin, Henri Jean Garchon, Biomarqueurs et essais cliniques en Cancérologie et Onco-Hématologie (BECCOH), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Saclay, Service de pathologie [CHU Ambroise Paré], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Ambroise Paré [AP-HP], Hôpital Foch [Suresnes], CHU Pontchaillou [Rennes], Centre hospitalier [Valenciennes, Nord], Centre de Recherche des Cordeliers (CRC (UMR_S_1138 / U1138)), École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Université de Paris (UP), 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), Lille Neurosciences & Cognition - U 1172 (LilNCog (ex-JPARC)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Centre de recherche sur l'Inflammation (CRI (UMR_S_1149 / ERL_8252 / U1149)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Paris (UP), Service d’Anatomie Pathologique [CHU Beaujon], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Beaujon [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Infection et inflammation (2I), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service d’endocrinologie et nutrition [AP-HP Ambroise-Paré], Hôpital Ambroise Paré [AP-HP], Institut Universitaire du Cancer de Toulouse - Oncopole (IUCT Oncopole - UMR 1037), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-CHU Toulouse [Toulouse]-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Cochin (IC UM3 (UMR 8104 / U1016)), Service de Pathologie [CHU Saint-Antoine], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Université de Versailles Saint-Quentin-en-Yvelines - UFR Sciences de la santé Simone Veil (UVSQ Santé), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), Institut Bergonié [Bordeaux], UNICANCER, Validation et identification de nouvelles cibles en oncologie (VINCO), UNICANCER-UNICANCER-Université Bordeaux Segalen - Bordeaux 2-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de pathologie [Bordeaux], Université Bordeaux Segalen - Bordeaux 2-CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, Association Pour la Recherche et L'enseignement en Pathologie, AREP, The study was supported by grants from Association pour la Recherche et l'Enseignement en Pathologie (AREP). The authors would like to thank Nathalie Terrones, Dominique Pechaud, Véronique Toulza, and Tristan Robert for performing tissue arrays sections and immunohistochemistry., École Pratique des Hautes Études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Université Paris Cité (UPCité), Lille Neurosciences & Cognition - U 1172 (LilNCog), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Université de Toulouse (UT)-Université de Toulouse (UT)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Saint-Antoine [AP-HP], and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)

Subjects
Cancer Research, Pathology, medicine.medical_specialty, endocrine system, endocrine system diseases, translocation, Chromosomal translocation, [SDV.CAN]Life Sciences [q-bio]/Cancer, Biology, digestive tract, Fusion gene, 03 medical and health sciences, CARMN, 0302 clinical medicine, NOTCH2, Biomarkers, Tumor, Genetics, medicine, Humans, Receptor, Notch2, Gene, Exome, Gastrointestinal Neoplasms, 030304 developmental biology, 0303 health sciences, Stomach, medicine.disease, Phenotype, Glomus tumor, MicroRNAs, medicine.anatomical_structure, Fusion transcript, glomus tumor, 030220 oncology & carcinogenesis, Gene Fusion
Abstract

International audience; Glomus tumors (GTs) are perivascular tumors mostly occurring in the distal extremities. Rare cases arise in the digestive tract and may be misdiagnosed with neuroendocrine or gastrointestinal stromal tumors. We aimed to specify the features of GT of the upper digestive tract. Clinical, histological, phenotypic, and molecular features of 16 digestive GTs were analyzed, of whom two underwent whole exome and RNA sequencing to search for gene alterations. RNA-sequencing disclosed a t(1:5)(p13;q32) translocation, which resulted in the fusion of CARMN and NOTCH2 in two GTs. The fusion gene encoded a protein sequence corresponding to the NOTCH2 intracellular domain that functions as transcription factor. These finding was supported by high expression of genes targeted by NOTCH. The CARMN-NOTCH2 translocation was detected in 14 out of 16 (88%) GTs of the upper digestive tract; but in only in two out of six cutaneous GTs (33%). Most digestive GT arose from the stomach (n = 13), and the others from duodenal (2) or oesophagous (1). Nuclear expression of NOTCH2 was detected in the 14 cases containing the fusion transcripts. The CARMN-NOTCH2 fusion transcript may contribute to activation of the NOTCH2 pathway in GT and drive tumor development. The high frequency of this translocation in GT of the upper digestive track suggest that detection of nuclear NOTCH2 expression may be useful diagnostic biomarker of these tumors.

Published
2021

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