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21 results on '"Karine Perlemoine"'

1. Intratumor heterogeneity of prognostic DNA-based molecular markers in adrenocortical carcinoma

Author

Anne Jouinot, Juliane Lippert, Martin Fassnacht, Bruno de La Villeon, Amandine Septier, Mario Neou, Karine Perlemoine, Silke Appenzeller, Mathilde Sibony, Sébastien Gaujoux, Bertrand Dousset, Rossella Libe, Lionel Groussin, Cristina L Ronchi, Guillaume Assié, and Jérôme Bertherat

Subjects
adrenocortical carcinoma, intratumor heterogeneity, methylation, chromosome alterations, somatic mutations, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
Abstract

Background: The prognosis of adrenocortical carcinoma (ACC) is heterogeneous. Genomic studies have identified ACC subgroups characterized by specific m olecular alterations, including features measured at DNA level (somatic mutations, chromosome alterations, DNA methylation), which are closely associated with outcome. The aim of this study was to evaluate intratumor heterogeneity of prognostic molecular markers at the DNA level. Methods: Two different tissue samples (primary tumor, local recurrence o r metastasis) were analyzed in 26 patients who underwent surgery for primary or recurrent ACC. DNA-related biomarkers with prognostic role were investigated i n frozen and paraffin-embedded samples. Somatic mutations of p53/Rb and Wnt/β-catenin pathways were assessed using next-generation sequencing (n = 26), chromosome alteration profiles were determined using SNP arrays (n = 14) and methylation profiles were determined using four-gene bisulfite pyrosequencing (n = 12). Results: Somatic mutations for ZNRF3, TP53, CTNN1B and CDKN2A were found in 7, 6, 6 and 4 patients, respectively, with intratumor heterogeneity in 8/26 patients (31%). Chromosome alteration profiles were ‘Noisy’ (numerous and anarch ic alterations) in 8/14 and ‘Chromosomal’ (extended patterns of loss of heterozygo sity) in 5/14 of the study samples. For these profiles, no intratumor heterogenei ty was observed. Methylation profiles were hypermethylated in 5/12 and non-hyperm ethylated in 7/12 of the study samples. Intratumor heterogeneity of methylation p rofiles was observed in 2/12 patients (17%). Conclusions: Intratumor heterogeneity impacts DNA-related molecular markers. While somatic mutation can differ, prognostic DNA methylation and chro mosome alteration profile seem rather stable and might be more robust for the prog nostic assessment.

Published
2020
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2. ARMC5 mutation in a Portuguese family with primary bilateral macronodular adrenal hyperplasia (PBMAH)

Author

Teresa Rego, Fernando Fonseca, Stéphanie Espiard, Karine Perlemoine, Jérôme Bertherat, and Ana Agapito

Subjects
Diseases of the endocrine glands. Clinical endocrinology, RC648-665
Abstract

PBMAH is a rare etiology of Cushing syndrome (CS). Familial clustering suggested a genetic cause that was recently confirmed, after identification of inactivating germline mutations in armadillo repeat-containing 5 (ARMC5) gene. A 70-year-old female patient was admitted due to left femoral neck fracture in May 2014, in Orthopedics Department. During hospitalization, hypertension (HTA) and hypokalemia were diagnosed. She presented with clinical signs of hypercortisolism and was transferred to the Endocrinology ward for suspected CS. Laboratory workup revealed: ACTH

Published
2017
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3. Description of 38 novel ARMC5 variants and review of the literature: the updated mutational landscape of ARMC5 in Bilateral Macronodular Adrenocortical Disease

Author

Lucas Bouys, Anna Vaczlavik, Cavalcante Isadora Pontes, Florian Violon, Anne Jouinot, Annabel Berthon, Patricia Vaduva, Stephanie Espiard, Karine Perlemoine, Peter Kamenicky, Marie-Christine Vantyghem, Antoine Tabarin, Gerald Raverot, Cristina Ronchi, Ulrich Dischinger, Martin Reincke, Barisson Villares Fragoso Maria Candida, Constantine Stratakis, Marie-Odile North, Eric Pasmant, Bruno Ragazzon, and Jerome Bertherat

Subjects
General Medicine
Published
2023
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7. Integrated genomics reveals the molecular classification of Primary Bilateral Macronodular Adrenal Hyperplasia (PBMAH), correlating with specific profiles of illegitimate receptors expression and identifies KDM1A as the genetic cause of food-dependent Cushing syndrome

Author

Lucas Bouys, Florian Violon, Anna Vaczlavik, Giannone Gaetan, Anne Jouinot, Roberta Armignacco, Isadora Pontes Cavalcante, Annabel Berthon, Eric Letouze, Patricia Vaduva, Maxime Barat, Bonnet Fideline, Karine Perlemoine, Christopher Ribes, Mathilde Sibony, Marie-Odile North, Stephanie Espiard, Magalie Haissaguerre, Igor TAUVERON, Laurence Guignat, Lionel Groussin, Bertrand Dousset, Martin Reincke, Villares Fragoso Maria Candida Barisson, Constantine A Stratakis, Eric Pasmant, Rossella Libe, Guillaume Assie, Bruno Ragazzon, and Jerome Bertherat

Published
2022
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8. Cullin 3 targets the tumor suppressor gene ARMC5 for ubiquitination and degradation

Author

Anna Vaczlavik, Eric Clauser, Isadora Pontes Cavalcante, Maria Candida Barisson Villares Fragoso, Jérôme Bertherat, Ludivine Drougat, Marthe Rizk-Rabin, Claudimara Ferini Pacicco Lotfi, Christopher Ribes, Bruno Ragazzon, Karine Perlemoine, and Université de Paris, Institut Cochin, Institut National de la Santé et de la Recherche Médicale INSERM U1016, Centre National de la Recherche Scientifique CNRS UMR8104, F-75014 Paris.

Subjects
0301 basic medicine, Cancer Research, Cyclin E, Tumor suppressor gene, [SDV]Life Sciences [q-bio], Endocrinology, Diabetes and Metabolism, Mutant, Transfection, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Ubiquitin, Humans, ComputingMilieux_MISCELLANEOUS, Armadillo Domain Proteins, biology, Ubiquitination, Cell cycle, REGULAÇÃO NEOPLÁSICA DA EXPRESSÃO GÊNICA, Cullin Proteins, Cell biology, 030104 developmental biology, Oncology, Proteasome, 030220 oncology & carcinogenesis, Armadillo repeats, biology.protein, Cullin
Abstract

ARMC5 (Armadillo repeat containing 5 gene) was identified as a new tumor suppressor gene responsible for hereditary adrenocortical tumors and meningiomas. ARMC5 is ubiquitously expressed and encodes a protein which contains a N-terminal Armadillo repeat domain and a C-terminal BTB (Bric-a-Brac, Tramtrack and Broad-complex) domain, both docking platforms for numerous proteins. At present, expression regulation and mechanisms of action of ARMC5 are almost unknown. In this study, we showed that ARMC5 interacts with CUL3 requiring its BTB domain. This interaction leads to ARMC5 ubiquitination and further degradation by the proteasome. ARMC5 alters cell cycle (G1/S phases and cyclin E accumulation) and this effect is blocked by CUL3. Moreover, missense mutants in the BTB domain of ARMC5, identified in patients with multiple adrenocortical tumors, are neither able to interact and be degraded by CUL3/proteasome nor alter cell cycle. These data show a new mechanism of regulation of the ARMC5 protein and open new perspectives in the understanding of its tumor suppressor activity.

Published
2020
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10. Identification of clinical parameters predictive of ARMC5 mutation in a large cohort of primary bilateral macronodular adrenal hyperplasia (PBMAH) patients

Author

Laurence Guignat, Antoine Tabarin, Jean-Louis Sadoul, Rossella Libe, Marie-Odile North, Françoise Borson-Chazot, Wiebke Arlt, Marie-Christine Vantyghem, Lefebvre Hervé, Felix Beuschlein, Patricia Vaduva, Lionel Groussin, Stéphanie Espiard, Anna Angelousi, Karine Perlemoine, Anna Vaczlavik, Trevor Cole, Chabre Olivier, Guillaume Assié, Christin-Maitre Sophie, Ana Agapito, Jérôme Bertherat, Marie-Laure Raffin-Sanson, Lucas Bouys, Philippe Chanson, Thierry Brue, Matthias Kroiss, Marcus Quinkler, Martin Reincke, and Bruno Ragazzon

Subjects
Oncology, medicine.medical_specialty, business.industry, Macronodular Adrenal Hyperplasia, Internal medicine, Mutation (genetic algorithm), Medicine, Identification (biology), business, Large cohort
Published
2020
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13. Identification of transcriptome profiles in paraffin samples using 3’ RNA-sequencing for the prognostic assessment of adrenocortical carcinoma

Author

Jérôme Bertherat, Roberta Armignacco, Lionel Groussin, Sébastien Gaujoux, Brigitte Izac, Franck Letourneur, Amandine Septier, Guillaume Assié, Mathilde Sibony, Karen Leroy, Karine Perlemoine, Bertrand Dousset, Anne Jouinot, Rossella Libé, Lindsay Jeanpierre, Bruno Ragazzon, and Murat Daniel De

Subjects
medicine, Adrenocortical carcinoma, RNA, Transcriptome Profiles, Identification (biology), Computational biology, Biology, medicine.disease
Published
2020
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14. Integrated genomics reveals different subgroups of primary bilateral macronodular adrenal hyperplasia (PBMAH)

Author

Franck Letourneur, Lucas Bouys, Mathilde Sibony, Bruno Ragazzon, Fidéline Bonnet, Jérôme Bertherat, Guillaume Assié, Laurence Guignat, Anna Vaczlavik, Karine Perlemoine, Stéphanie Espiard, Victor Heurtier, and Eric Letouzé

Subjects
Pathology, medicine.medical_specialty, business.industry, Macronodular Adrenal Hyperplasia, Medicine, Genomics, business
Published
2020
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15. ARMC5 mutation in a Portuguese family with primary bilateral macronodular adrenal hyperplasia (PBMAH)

Author

Ana Agapito, Jérôme Bertherat, Karine Perlemoine, Fernando Fonseca, Stéphanie Espiard, and Teresa Rego

Subjects
Pathology, medicine.medical_specialty, Pediatrics, Endocrinology, Diabetes and Metabolism, Fludrocortisone, 030209 endocrinology & metabolism, Disease, 030204 cardiovascular system & hematology, lcsh:Diseases of the endocrine glands. Clinical endocrinology, 03 medical and health sciences, Cushing syndrome, 0302 clinical medicine, Germline mutation, Internal Medicine, medicine, Hydrocortisone, Insight into Disease Pathogenesis or Mechanism of Therapy, Hyperplasia, lcsh:RC648-665, Portugal, Adrenal gland, business.industry, medicine.disease, 3. Good health, medicine.anatomical_structure, Macronodular Adrenal Hyperplasia, Mutation, Etiology, business, HCC END, medicine.drug
Abstract

Summary PBMAH is a rare etiology of Cushing syndrome (CS). Familial clustering suggested a genetic cause that was recently confirmed, after identification of inactivating germline mutations in armadillo repeat-containing 5 (ARMC5) gene. A 70-year-old female patient was admitted due to left femoral neck fracture in May 2014, in Orthopedics Department. During hospitalization, hypertension (HTA) and hypokalemia were diagnosed. She presented with clinical signs of hypercortisolism and was transferred to the Endocrinology ward for suspected CS. Laboratory workup revealed: ACTH Learning points: PBMAH is a rare etiology of CS, characterized by functioning adrenal macronodules and variable cortisol secretion. The asymmetric/asynchronous involvement of only one adrenal gland can also occur, making disease diagnosis a challenge. Familial clustering suggests a genetic cause that was recently confirmed, after identification of inactivating germline mutations in armadillo repeat-containing 5 (ARMC5) gene. The insidious nature of this disease and the well-known deleterious effect of hypercortisolism favor genetic study of other family members, to diagnose and treat these patients timely. As ARMC5 is expressed in many organs and recent findings suggest an association of PBMAH and meningioma, a watchful follow-up is required.

Published
2017
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18. Molecular classification of benign adrenocortical tumors: an integrated genomic study

Author

Marthe Rizk-Rabin, Anna Vaczlavik, Lionel Groussin, Stéphanie Espiard, Frédérique Tissier, Windy Luscap-Rondof, Jérôme Bertherat, S. Faillot, Mario Neou, Guillaume Assié, Simon Garinet, Ludivine Drougat, Rossella Libé, Fernande René-Corail, Anne Jouinot, Karine Perlemoine, Reynies Aurelien de, and Bruno Ragazzon

Subjects
Molecular classification, Computational biology, Biology
Published
2018
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19. Identification of new ARMC5 missense mutations in Primary Bilateral Macronodular Adrenal Hyperplasia (PBMAH) and their functional studies in vitro

Author

Bruno Ragazzon, Stéphanie Espiard, Ludivine Drougat, Marthe Rizk-Rabin, Anna Vaczlavik, Karine Perlemoine, Marie-Odile North, and Jérôme Bertherat

Subjects
Primary (chemistry), business.industry, Macronodular Adrenal Hyperplasia, Cancer research, Missense mutation, Medicine, Identification (biology), Functional studies, business, In vitro
Published
2018
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20. Molecular classifiers refine the prognostic stratification of adrenocortical carcinoma

Author

Esther Korpershoek, Xavier Bertagna, Mario Neou, Olivier Chabre, Simon Faillot, Matthias Kroiss, Mathilde Sibony, Karine Perlemoine, Marcus Quinkler, Lionel Groussin, Julien Sakat, Frédérique Tissier, Massimo Mannelli, Guillaume Assié, Laurence Amar, Krijger Ronald De, Antoine Tabarin, Rossella Libe, Nadim Hamzaoui, Anne Jouinot, Silviu Sbiera, Joel Coste, Jens Waldmann, Michaela Luconi, Cristina L Ronchi, Bertrand Dousset, Jérôme Bertherat, Louis Jacob, Felix Beuschlein, Eric Baudin, Martin Fassnacht, and Simon Garinet

Subjects
Oncology, medicine.medical_specialty, business.industry, Internal medicine, medicine, Adrenocortical carcinoma, medicine.disease, business, Prognostic stratification
Published
2018
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