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1. Maternal Inheritance of Familial Hypercholesterolemia Gene Mutation Predisposes to Coronary Atherosclerosis as Assessed by Calcium Score in Adulthood

Author

Florian Mourre, Roch Giorgi, Antonio Gallo, Franck Boccara, Eric Bruckert, Alain Carrié, Regis Hankard, Jocelyn Inamo, Sandrine Laboureau, Philippe Moulin, René Valéro, Sophie Béliard, Denis Angoulvant, Sophie Beliard, Bertrand Cariou, Valérie Carreau, Alain Carrie, Sybil Charrieres, Yves Cottin, Mathilde Di Filippo, Pierre Henri Ducluzeau, Sonia Dulong, Vincent Durlach, Michel Farnier, Emile Ferrari, Dorota Ferrieres, Jean Ferrieres, Olga Kalmykova, Michel Krempf, Julie Lemale, François Paillard, Noel Peretti, Agnes Perrin, Alain Pradignac, Jean Pierre Rabes, Vincent Rigalleau, François Schiele, Ariane Sultan, Patrick Tounian, René Valero, Bruno Verges, Cecile Yelnik, Olivier Ziegler, Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Research Unit on Cardiovascular and Metabolic Diseases (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Institut de Cardiométabolisme et Nutrition = Institute of Cardiometabolism and Nutrition [CHU Pitié Salpêtrière] (IHU ICAN), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Nutrition, croissance et cancer (U 1069) (N2C), Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre recherche en CardioVasculaire et Nutrition = Center for CardioVascular and Nutrition research (C2VN), and Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)

Subjects
[SDV]Life Sciences [q-bio], hyperlipidemia, maternal inheritance, risk factors, atherosclerosis, Cardiology and Cardiovascular Medicine, cardiovascular diseases
Abstract

Background: Animal studies have demonstrated that fetal exposure to high maternal cholesterol levels during pregnancy predisposes to aortic atheroma in the offspring. In humans, little is known about the consequences of this exposure on the development of atherosclerotic cardiovascular disease later in life. We wanted to assess whether maternal/paternal inheritance of familial hypercholesterolemia (FH) gene mutation could be associated with subclinical coronary atherosclerosis. Methods: We retrospectively included 1350 patients, followed in the French registry of FH, with a documented genetic diagnosis. We selected 556 age- and sex-matched pair of patients based on the sex of the parents who transmitted the FH gene mutation, free of coronary cardiovascular event, and with a subclinical coronary atherosclerosis evaluation assessed using coronary artery calcium (CAC) score. We performed univariate and multivariate analysis to assess the individual effect of parental inheritance of the FH gene mutation on the CAC score. Results: In the whole population, patients with maternal inheritance of FH gene mutation (n=639) less frequently had a family history of premature cardiovascular events (27.7% versus 45%, P P =0.02) than those with paternal inheritance (n=711). There was no difference in the prevalence of cardiovascular events between the two groups. In the matched subgroup, maternal inheritance was significantly associated with an increase in CAC score value by 86% (95% CI, 23%–170%; P =0.003), a 1.81-fold risk of having a CAC score ≥100 Agatston units (95% CI, 1.06–3.11; P =0.03), and a 2.72-fold risk of having a CAC score ≥400 Agatston units (95% CI, 1.39–5.51; P =0.004) when compared with paternal inheritance in multivariate analysis. Conclusions: Maternal inheritance of FH gene mutation was associated with more severe subclinical coronary atherosclerosis assessed by CAC score and may be considered as a potential cardiovascular risk factor.

Published
2023

2. The French COMETE-Cancer network for adrenal cancer: 10 years of activity as part of a national plan for clinical care of rare cancers

Author

Delphine Vezzosi, Eric Baudin, Bernard Goichot, Olivier Chabre, Marie-Christine Vanthyghem, Rossella Libe, Herve Lefebvre, Antoine Tabarin, Jérôme Bertherat, B. Verges, Patricia Niccoli, Sandrine Laboureau, Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service d'Endocrinologie (BORDEAUX - Endocrino), CHU Bordeaux [Bordeaux], Service d'endocrinologie, CHU Grenoble-Hôpital Michallon, Service de Médecine Interne, Endocrinologie et Nutrition [CHU Strasbourg], Les Hôpitaux Universitaires de Strasbourg (HUS)-CHU Strasbourg, Service d'Endocrinologie (TOULOUSE - Endocrino), CHU Toulouse [Toulouse], 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), Département d'Endocrinologie, Diabète et Maladies Métaboliques [CHU Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU), Service d'Endocrinologie, Diabétologie et Maladies Métaboliques (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Institut Paoli-Calmettes, Fédération nationale des Centres de lutte contre le Cancer (FNCLCC), and Institut Gustave Roussy (IGR)

Subjects
medicine.medical_specialty, business.industry, Family medicine, [SDV.BC.IC]Life Sciences [q-bio]/Cellular Biology/Cell Behavior [q-bio.CB], [SDV.MHEP.PHY]Life Sciences [q-bio]/Human health and pathology/Tissues and Organs [q-bio.TO], Medicine, Plan (archaeology), Cancer, [SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, Clinical care, business, medicine.disease, 3. Good health
Abstract

International audience; P826The French COMETE-Cancer network for adrenal cancer: 10 years of activity as part of a national plan for clinical care of rare cancersIntroductionThe French National Institute of Cancer (INCa) launched supported by the Ministry of Health in 2008 a program for the recognition of national networks for the management of rare cancers. Among the 23 selected networks COMETECancer was recognized by INCa in 2009 for Adrenocortical carcinoma (ACC) and malignant pheochromocytoma/paraganglioma (MPP). At that time 60–120 new ACC/year and 30 new MPP/year were expected at the national level.AimTo describe the general activities of COMETE-cancer after 10-years of activity.Materials and methodsINCa list 7 tasks for the national rare cancer networks: 1) Expertise: double reading of tumor samples, Referral National Multisciplinary Staff (RNMS); 2) Care practice: national best practice guidelines release; 3) Referral: patient access to highly specialized/innovative treatments (clinical trial); 4) Observation: exhaustive recording of national cases in registries; 5) Clinical and translationalresearch; 6) Healthcare professional training; 7) Role of patient associations. TheFrench COMETE-K network is coordinated by two-sites Centers (Cochin andGustave Roussy). Ten Regional Experts Centers have been recognized for anational geographical coverage.ResultsA double reading is done in about 200 cases of ACC/MPP tumor samples/year. A RNMS is organized twice a month (web based system): about 170 ACC and MPP patients/year are discussed. The coverage rate of ‘new’ patients reviewed in RNMS/‘estimated’ total number cases was 68%. The consistency between treatment proposed in RNMS and treatment administered was of 84%. Since2010, 958 ACC and 384 MPP have been entered in the ENSAT database. Two National best practice guidelines for ACC/MPP were released. About 70 ACC/MPP have been referred to the COMETE-Cancer centers for highly specialized and innovative treatment (phase II-III trial, radiofrequency/cryotherapy, liver chimioembolisation). COMETE-Cancer participated in two international trials (ADIUVO in ACC and FIRSTMAPP in MPP) and more than 20 translational studies. Every year more than 500 healthcare professional (student, endocrinologists, surgeons, pathologist, oncologists) are trained. Moreover, it strongly collaborates with the patients ‘Association Surre´nale’ by writing specific documents on the clinical ACC/MPP management.ConclusionsCOMETE-cancer has led to a homogenous national organization for clinical care of ACC and MPP. The RNMS proved to be very efficient for that. Links with the ENSAT, ENDO-ERN and EURACAN networks will allow further progress at the European level.DOI: 10.1530/endoabs.63.P826

Published
2019

3. 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

4. Natural history, treatment, and long-term follow up of patients with multiple endocrine neoplasia type 2B: an international, multicentre, retrospective study

Author

Mariola Pęczkowska, Akihiro Sukurai, Anita Špehar Uroić, Andreas Machens, Laura Fugazzola, Tushar Bandgar, Carla Vaz Ferreira Vargas, Hartmut P. H. Neumann, Martin Schlumberger, Delphine Drui, Patricia Fainstein-Day, Francoise Borson Chazot, Amandine Berdelou, Tom R. Kurzawinski, Delphine Mirebeau-Prunier, Olivier Chabre, Dominique Maiter, Philippe Caron, Gabriella Sanso, Tsuneo Imai, Camilo Jimenez, Frederic Sebag, Márta Korbonits, Atila Patocs, Laura Valerio, Sarka Dvorakova, Claudio Letizia, Srivandana Akshintala, Christian Godballe, Regis Cohen, Eric Baudin, Caterina Mian, Jolanta Krajewska, Rossella Elisei, Laurence Leclerc, Tobias Else, Marc Klein, Kornelia Hasse-Lazar, Thierry Brue, Steven G. Waguespack, Petr Vlcek, Nuria Valdes, Thera P. Links, Ana Luisa Maia, Ana O. Hoff, Henning Dralle, Frederic Castinetti, André Lacroix, Xiao Ping Qi, Maria João Bugalho, Maralyn Druce, Nelson Wohllk, Barbara Jarzab, Birke Bausch, Delmar M. Lourenço, John Glod, Shinya Uchino, Caroline Brain, Letizia Canu, Charis Eng, Marta Barontini, Jes Sloth Mathiesen, Antoine Tabarin, Elizabeth G. Grubbs, Lucieli Ceolin, Sandrine Laboureau, Repositório da Universidade de Lisboa, Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU), University of Coimbra [Portugal] (UC), Endocrine Section, Hospital del Salvador, Département d'Endocrinologie [CHU Nantes] (Institut du Thorax), Centre hospitalier universitaire de Nantes (CHU Nantes)-Institut du Thorax [Nantes], Queen Mary University of London (QMUL), Centre de médecine nucléaire, Fédération d'endocrinologie-Groupement hospitalier Lyon-Est, Department of Internal Medicine and Medical Specialties, Università degli Studi di Roma 'La Sapienza' = Sapienza University [Rome], Biologie du Cancer et de l'Infection (BCI ), Institut de Recherche Interdisciplinaire de Grenoble (IRIG), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019])-Institut National de la Santé et de la Recherche Médicale (INSERM), Università degli Studi di Firenze = University of Florence [Firenze] (UNIFI), Department of Endocrinology and Diabetes Mellitus, Hôpital Delafontaine, CHU Bordeaux [Bordeaux], Endocrinology, Cliniques Universitaires Saint-Luc [Bruxelles], Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Department of Medical and Surgical Sciences, Universita degli Studi di Padova, Department of Hypertension, Institute of Cardiology, Service de chirurgie générale et endocrinienne, Hôpital de la Timone [CHU - APHM] (TIMONE), Service d'endocrinologie, diabète, maladies métaboliques [Hôpital de la Conception - APHM], Aix Marseille Université (AMU), 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), Université Paris-Saclay, Centro de Investigaciones Endocrinológicas, Hospital de Niños R. Gutiérrez, Genomic Medicine Institute, Cleveland Clinic, Médecine nucléaire, Département d'imagerie médicale [Gustave Roussy], Institut Gustave Roussy (IGR)-Institut Gustave Roussy (IGR), Institut Gustave Roussy (IGR), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Groupement Hospitalier Lyon-Est (GHE), Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL)-Fédération d'endocrinologie, Università degli Studi di Roma 'La Sapienza' = Sapienza University [Rome] (UNIROMA), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019])-Institut de Recherche Interdisciplinaire de Grenoble (IRIG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Università degli Studi di Firenze = University of Florence (UniFI), Università degli Studi di Padova = University of Padua (Unipd), MitoVasc - Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), Damage and Repair in Cancer Development and Cancer Treatment (DARE), and Guided Treatment in Optimal Selected Cancer Patients (GUTS)

Subjects
Male, Pediatrics, PHEOCHROMOCYTOMA, MEDULLARY-THYROID CARCINOMA, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, [SDV]Life Sciences [q-bio], Medizin, Adrenal Gland Neoplasms, Multiple Endocrine Neoplasia Type 2b, Internal Medicine, Endocrinology, surgery, 0302 clinical medicine, DOMAIN, 030212 general & internal medicine, Child, MUTATION, men2, Middle Aged, Prognosis, Penetrance, CANCER, 3. Good health, Diabetes and Metabolism, Natural history, Survival Rate, Child, Preschool, RET PROTOONCOGENE, MANAGEMENT, Cohort, Thyroidectomy, Female, Multiple endocrine neoplasia type 2b, Adult, medicine.medical_specialty, Adolescent, 030209 endocrinology & metabolism, Pheochromocytoma, 03 medical and health sciences, Young Adult, medicine, Humans, Thyroid Neoplasms, Survival rate, Retrospective Studies, adrenal gland, business.industry, Infant, International Agencies, Retrospective cohort study, medicine.disease, Carcinoma, Neuroendocrine, MEN2b, business, Follow-Up Studies
Abstract

© 2019 Elsevier Ltd. All rights reserved., Background: Multiple endocrine neoplasia type 2B is a rare syndrome caused mainly by Met918Thr germline RET mutation, and characterised by medullary thyroid carcinoma, phaeochromocytoma, and extra-endocrine features. Data are scarce on the natural history of multiple endocrine neoplasia type 2B. We aimed to advance understanding of the phenotype and natural history of multiple endocrine neoplasia type 2B, to increase awareness and improve detection. Methods: This study was a retrospective, multicentre, international study in patients carrying the Met918Thr RET variant with no age restrictions. The study was done with registry data from 48 centres globally. Data from patients followed-up from 1970 to 2016 were retrieved from May 1, 2016, to May 31, 2018. Our primary objectives were to determine overall survival, and medullary thyroid carcinoma-specific survival based on whether the patient had undergone early thyroidectomy before the age of 1 year. We also assessed remission of medullary thyroid carcinoma, incidence and treatment of phaeochromocytoma, and the penetrance of extra-endocrine features. Findings: 345 patients were included, of whom 338 (98%) had a thyroidectomy. 71 patients (21%) of the total cohort died at a median age of 25 years (range

Published
2019

5. Liver adenomatosis in patients with hepatocyte nuclear factor-1 alpha maturity onset diabetes of the young (HNF1A-MODY): Clinical, radiological and pathological characteristics in a French series

Author

Christine Bellanne-Chantelot, Charles Thivolet, Pierre-Yves Benhamou, Etienne Larger, Laurence Chiche, Nathalie Jeandidier, Sandrine Laboureau, Luc Fournier, Anne Rod, Jean-Marie Wilhelm, Marc Popelier, Jean-François Gautier, P. Lecomte, Aini Haddouche, Pierre-Jean Guillausseau, Yves Reznik, Lucy Chaillous, René Valéro, Jose Timsit, CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Université Pierre et Marie Curie - Paris 6 (UPMC), Hôpital Européen [Fondation Ambroise Paré - Marseille], Université Paris Diderot - Paris 7 (UPD7), Institut du thorax, Université de Nantes (UN)-IFR26-Institut National de la Santé et de la Recherche Médicale (INSERM), Maladies Métaboliques et Endocrinologie, Université de la Méditerranée - Aix-Marseille 2, Centre recherche en CardioVasculaire et Nutrition = Center for CardioVascular and Nutrition research (C2VN), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service d'endocrinologie [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), Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN), Institut National de la Recherche Agronomique (INRA)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Universitaire [Grenoble] (CHU), Laboratory of Fundamental and Applied Bioenergetics = Laboratoire de bioénergétique fondamentale et appliquée (LBFA), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019]), Service de Biochimie Métabolique et Centre de Génétique moléculaire et chromosomique [CHU Pitié Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Pitié-Salpêtrière [APHP], Centre recherche en CardioVasculaire et Nutrition (C2VN), CHU Cochin [AP-HP], Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hospices Civils de Lyon (HCL), Laboratoire de bioénergétique fondamentale et appliquée (LBFA), Université Joseph Fourier - Grenoble 1 (UJF)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Grenoble Alpes (UGA), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)

Subjects
Adenoma, Adult, Diagnostic Imaging, Male, endocrine system, medicine.medical_specialty, Adolescent, Endocrinology, Diabetes and Metabolism, [SDV]Life Sciences [q-bio], 030209 endocrinology & metabolism, 030204 cardiovascular system & hematology, Gastroenterology, Maturity onset diabetes of the young, Cohort Studies, 03 medical and health sciences, Liver disease, Young Adult, 0302 clinical medicine, Germline mutation, Diabetes mellitus, Internal medicine, medicine, Humans, Hepatocyte Nuclear Factor 1-alpha, Hnf1a-mody, Child, Family Health, business.industry, Liver Neoplasms, Middle Aged, medicine.disease, 3. Good health, HNF1A, Diabetes Mellitus, Type 2, Mutation, diabetes mellitus, Histopathology, Female, France, business, Rare disease, liver adenomatosis
Abstract

Liver adenomatosis (LA) is a rare disease resulting from biallelic inactivation of the hepatocyte nuclear factor-1 alpha (HNF1A) gene, which induces the proliferation of adenoma cells in liver parenchyma. Liver adenomatosis has only been documented in case reports from patients carrying a HNF1A germline mutation. We have evaluated the frequency of LA among a large cohort of patients with HNF1A-maturity onset diabetes of the young (MODY), previously termed "MODY3," and herein describe its clinical, radiological, and pathological characteristics.In all, 137 HNF1A-MODY subjects from 74 families were screened by liver ultrasonography in 13 centers, and 15 additional cases of LA were later included in the series. Liver adenomatosis was confirmed by liver computed tomography, magnetic resonance imaging (MRI), and/or histopathology.Among 137 carriers of an HNF1A mutation, 9 patients (6.5%) from seven families were diagnosed with LA. Diabetes mellitus was present in 87.5% of patients with LA. In 25% of patients, LA was diagnosed due to intra-abdominal or intratumoral bleeding. Liver biochemistry was near normal in all patients. Liver imaging showed adenomas of various sizes and numbers. On MRI, most nodules had the radiological characteristics of steatotic adenomas. Histopathological confirmation of LA was available in 13 cases, and these adenomas were mostly steatotic. Surgery was initially performed in 37.5% of patients, and liver disease progression was observed in 30%. No disease progression was observed in 14 pregnancies.The frequency of LA in a cohort of screened HNF1A-MODY patients and the high incidence of LA progression and/or hemorrhage warrants systematic screening for liver adenomatosis in HNF1A-MODY families.背景: 肝细胞腺瘤病(liver adenomatosis, LA)是一种由于肝细胞核因子-1α(HNF1A)基因中的双等位基因失活所导致的罕见疾病, 可诱发肝实质中的腺瘤细胞增殖。肝细胞腺瘤病仅见于携带HNF1A种系突变基因患者的病例报告。我们在一个大型HNF1A-青少年发病的成年型糖尿病(MODY, 以前被称为“MODY3”)患者队列中评估了LA的发生率, 并在此对其临床、放射学以及病理学特征进行了描述。 方法: 共有137名来自于74个家系的HNF1A-MODY受试者在13个中心接受了肝脏超声检查, 后续还有15名LA患者被纳入这项系列研究。通过肝脏计算机断层扫描、磁共振成像(MRI)和/或组织病理学检查来确诊肝细胞腺瘤病。 结果: 在137名HNF1A突变基因携带者中, 来自7个家系的9例(6.5%)患者被诊断为LA。87.5%的LA患者存在糖尿病。25%的患者因出现腹腔内或者肿瘤内出血而被诊断为LA。所有患者的肝脏生化指标均接近正常。肝脏影像学表现为大小不等、数目不等的腺瘤。在MRI上, 大多数结节具有脂肪性腺瘤的影像学特征。13例LA得到组织病理学证实, 并且这些腺瘤以脂肪变性为主。37.5%的患者最初进行了手术, 30%的患者观察到肝脏疾病进展。14例妊娠患者未见疾病进展。 结论: 在筛选的HNF1A-MODY患者队列中, 由于LA的高发病率以及LA进展和/或出血的高发生率, 因此很有必要在HNF1A-MODY家系中进行肝细胞腺瘤病的系统筛查。.

Published
2019

6. Effect of Glyburide vs Subcutaneous Insulin on Perinatal Complications Among Women With Gestational Diabetes A Randomized Clinical Trial

Author

Philippe Deruelle, Jean Bouyer, Florence Bretelle, Mathieu Morin, Marie-Victoire Senat, Virginie Castera, Magali Coustols-Valat, Loïc Sentilhes, Helene Affres, Eric Verspyck, Alexandra Letourneau, Julie Fort Jacquier, Raoul Desbriere, Gael Beucher, Isabelle Héron, Anne Rod, Celine De Carne, Helene Legardeur, Sandrine Laboureau, Catherine Rolland, Emmanuel Simon, Nathalie Bourcigaux, Marie Cazaubiel, François Maillot, Groupe de Recherche en Obstétrique et Gynécologie, Delphine Mitanchez, Centre de recherche en épidémiologie et santé des populations (CESP), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Gynécologie Obstétrique [AP-HP Hôpital Bicêtre], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Bicêtre, Université Paris-Sud - Paris 11 - Faculté de médecine (UP11 UFR Médecine), Université Paris-Sud - Paris 11 (UP11), Service d'Obstétrique et Gynécologique [Angers], Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), Gynépole, Aix Marseille Université (AMU)- Hôpital Nord [CHU - APHM], Microbes évolution phylogénie et infections (MEPHI), Institut de Recherche pour le Développement (IRD)-Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Université Grenoble Alpes - UFR Pharmacie (UGA UFRP), Université Grenoble Alpes [2016-2019] (UGA [2016-2019]), Service Gynécologie [CHU Toulouse], Pôle Femme-Mère-Couple [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Service de Gynécologie - Obstétrique [Lille], Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hôpital Bretonneau, Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Service de Gynécologie-Obstétrique et Médecine de la Reproduction [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 gynécologie et obstétrique [CHU Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Université Pierre et Marie Curie - Paris 6 (UPMC), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris-Sud - Paris 11 (UP11)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD)-Aix Marseille Université (AMU), Service de gynécologie-obstétrique [CHU Toulouse], CHU Toulouse [Toulouse], Université de Rouen Normandie (UNIROUEN), and Normandie Université (NU)-Normandie Université (NU)-CHU Rouen

Subjects
Blood Glucose, medicine.medical_specialty, medicine.medical_treatment, 030209 endocrinology & metabolism, Hypoglycemia, law.invention, 03 medical and health sciences, 0302 clinical medicine, Randomized controlled trial, Pregnancy, law, [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases, Diabetes mellitus, Internal medicine, Glyburide, Fetal macrosomia, medicine, Humans, Hypoglycemic Agents, Insulin, 030212 general & internal medicine, Original Investigation, 030219 obstetrics & reproductive medicine, business.industry, Perinatal complications, Neonatal hypoglycemia, Pregnancy Outcome, Obstetrics and Gynecology, General Medicine, medicine.disease, 3. Good health, Subcutaneous insulin, Gestational diabetes, Diabetes, Gestational, Female, business
Abstract

Importance Randomized trials have not focused on neonatal complications of glyburide for women with gestational diabetes. Objective To compare oral glyburide vs subcutaneous insulin in prevention of perinatal complications in newborns of women with gestational diabetes. Design, Settings, and Participants The Insulin Daonil trial (INDAO), a multicenter noninferiority randomized trial conducted between May 2012 and November 2016 (end of participant follow-up) in 13 tertiary care university hospitals in France including 914 women with singleton pregnancies and gestational diabetes diagnosed between 24 and 34 weeks of gestation. Interventions Women who required pharmacologic treatment after 10 days of dietary intervention were randomly assigned to receive glyburide (n=460) or insulin (n=454). The starting dosage for glyburide was 2.5 mg orally once per day and could be increased if necessary 4 days later by 2.5 mg and thereafter by 5 mg every 4 days in 2 morning and evening doses, up to a maximum of 20 mg/d. The starting dosage for insulin was 4 IU to 20 IU given subcutaneously 1 to 4 times per day as necessary and increased according to self-measured blood glucose concentrations. Main Outcomes and Measures The primary outcome was a composite criterion including macrosomia, neonatal hypoglycemia, and hyperbilirubinemia. The noninferiority margin was set at 7% based on a 1-sided 97.5% confidence interval. Results Among the 914 patients who were randomized (mean age, 32.8 [SD, 5.2] years), 98% completed the trial. In a per-protocol analysis, 367 and 442 women and their neonates were analyzed in the glyburide and insulin groups, respectively. The frequency of the primary outcome was 27.6% in the glyburide group and 23.4% in the insulin group, a difference of 4.2% (1-sided 97.5% CI, −∞ to 10.5%; P =.19). Conclusion and Relevance This study of women with gestational diabetes failed to show that use of glyburide compared with subcutaneous insulin does not result in a greater frequency of perinatal complications. These findings do not justify the use of glyburide as a first-line treatment. Trial Registration clinicaltrials.gov Identifier:NCT01731431

Published
2018

7. New case of bilateral pheochromocytomas involving the homozygous TMEM127 mutation

Author

Charlotte Veyrat-Durebex, Claire Briet, Thierry Duriez, Sandrine Laboureau, Nathalie Bouzamondo, Delphine Mirebeau-Prunier, Agnès Guichet, Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Service de génétique [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), Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), and Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)

Subjects
0301 basic medicine, business.industry, [SDV]Life Sciences [q-bio], Homozygote, Adrenal Gland Neoplasm, Adrenal Gland Neoplasms, Membrane Proteins, Pheochromocytoma, 030105 genetics & heredity, medicine.disease, 03 medical and health sciences, Text mining, Mutation, Mutation (genetic algorithm), Genetics, medicine, Cancer research, Humans, business, ComputingMilieux_MISCELLANEOUS, Genetics (clinical)
Abstract

International audience

Published
2018

8. Clinical Characteristics and Diagnostic Criteria of Maturity-Onset Diabetes Of The Young (MODY) due to Molecular Anomalies of the HNF1A Gene

Author

Christine, Bellanné-Chantelot, David Joseph, Lévy, Claire, Carette, Cécile, Saint-Martin, Jean-Pierre, Riveline, Etienne, Larger, René, Valéro, Jean-François, Gautier, Yves, Reznik, Agnès, Sola, Agnès, Hartemann, Sandrine, Laboureau-Soares, Marie, Laloi-Michelin, Pierre, Lecomte, Lucy, Chaillous, Danièle, Dubois-Laforgue, José, Timsit, G, Velho, CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), 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), CHU Pitié-Salpêtrière [AP-HP], Centre de Recherche des Cordeliers (CRC), Université Pierre et Marie Curie - Paris 6 (UPMC)-École Pratique des Hautes Études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Paris Diderot - Paris 7 (UPD7)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Department of diabetes and endocrinology, Centre Hospitalier Sud Francilien, Angiogénèse embryonnaire et pathologique, Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre interdisciplinaire de recherche en biologie (CIRB), Labex MemoLife, École normale supérieure - Paris (ENS-PSL), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Collège de France (CdF (institution))-Ecole Superieure de Physique et de Chimie Industrielles de la Ville de Paris (ESPCI Paris), Université Paris sciences et lettres (PSL)-École normale supérieure - Paris (ENS-PSL), Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Labex MemoLife, Université Paris sciences et lettres (PSL)-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 Descartes - Paris 5 (UPD5), Service Nutrition, Maladies Metaboliques, Endocrinologie, Assistance Publique - Hôpitaux de Marseille (APHM), 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)-Université Paris Diderot - Paris 7 (UPD7)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Unité sous contrat aromatase et oestrogènes dans les gonades des mammifères, Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Recherche Agronomique (INRA), Centre Hospitalier Universitaire (CHU), Stress Oxydant et Pathologies Métaboliques (SOPAM), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Lariboisière-Fernand-Widal [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université de Liège, Immuno-Endocrinologie Cellulaire et Moléculaire (IECM), Institut National de la Recherche Agronomique (INRA)-Université de Nantes (UN)-Ecole Nationale Vétérinaire de Nantes-École nationale vétérinaire, agroalimentaire et de l'alimentation Nantes-Atlantique (ONIRIS), Clinique d'endocrinologie, Université Sorbonne Paris Cité (USPC), Service de diabétologie [CHU Cochin], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Hôpital Cochin [AP-HP], Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université Paris Diderot - Paris 7 (UPD7)-École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), CH Evry-Corbeil-CH Evry-Corbeil, École normale supérieure - Paris (ENS Paris), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Ecole Superieure de Physique et de Chimie Industrielles de la Ville de Paris (ESPCI Paris), Université Paris sciences et lettres (PSL)-Collège de France (CdF (institution))-École normale supérieure - Paris (ENS Paris), Université Paris sciences et lettres (PSL)-Collège de France (CdF (institution))-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Labex MemoLife, Université Paris sciences et lettres (PSL)-Collège de France (CdF (institution))-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de la Santé et de la Recherche Médicale (INSERM), École pratique des hautes études (EPHE), and Ecole Nationale Vétérinaire de Nantes-Université de Nantes (UN)-Institut National de la Recherche Agronomique (INRA)

Subjects
Adult, Genetic Markers, Male, medicine.medical_specialty, Multivariate analysis, Adolescent, [SDV]Life Sciences [q-bio], Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Age at diagnosis, 030209 endocrinology & metabolism, Context (language use), 030204 cardiovascular system & hematology, Biochemistry, Maturity onset diabetes of the young, Diagnosis, Differential, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Internal medicine, Diabetes mellitus, medicine, Humans, Genetic Testing, Hepatocyte Nuclear Factor 1-alpha, Age of Onset, Child, Aged, Retrospective Studies, 2. Zero hunger, business.industry, Biochemistry (medical), Middle Aged, medicine.disease, 3. Good health, HNF1A, Phenotype, Diabetes Mellitus, Type 2, Multicenter study, Child, Preschool, Female, Differential diagnosis, business
Abstract

International audience; Context: The diagnosis of maturity-onset diabetes of the young type 3 (MODY3), associated with HNF1A molecular abnormalities, is often missed.Objective: The objective of the study was to describe the phenotypes of a large series of MODY3 patients and to reassess parameters that may improve its diagnosis. Design, Setting, and Patients: This retrospective multicenter study included 487 unrelated patients referred because of suspicion of MODY3. Genetic analysis identified 196 MODY3 and 283 non-MODY3 cases. Criteria associated with MODY3 were assessed by multivariate analysis. The capacity of the model to predict MODY3 diagnosis was assessed by the area under the receiver-operating characteristic curve and was further validated in an independent sample of 851 patients (165 MODY3 and 686 non-MODY3). Results: In the MODY3 patients, diabetes was revealed by clinical symptoms in 25% of the cases and was diagnosed by screening in the others. Age at diagnosis of diabetes was more than 25 yr in 40% of the MODY3 patients. There was considerable variability and overlap of all assessed parameters in MODY3 and non-MODY3 patients. The best predictive model was based on criteria available at diagnosis of diabetes, including age, body mass index, number of affected generations, presence of diabetes symptoms, and geographical origin. The area under the curve of the receiver-operating characteristic analysis was 0.81. When sensitivity was set to 90%, specificity was 49%. Conclusions: Differential diagnosis between MODY3 and early-onset type 2 diabetes remains difficult. Whether the proposed model will improve the pick-up rate of MODY3 diagnosis needs to be confirmed in independent populations.

Published
2011

9. Tyrosine kinase inhibitors and modifications of thyroid function tests: a review

Author

Séverine Dubois, Sandrine Laboureau-Soares, Frédéric Illouz, Vincent Rohmer, and Patrice Rodien

Subjects
endocrine system, medicine.medical_specialty, endocrine system diseases, medicine.drug_class, Endocrinology, Diabetes and Metabolism, Thyroid Function Tests, medicine.disease_cause, Thyroid function tests, Tyrosine-kinase inhibitor, Endocrinology, Hypothyroidism, Hormone regulation, Neoplasms, Internal medicine, Protein-Tyrosine Kinases, medicine, Humans, Protein Kinase Inhibitors, medicine.diagnostic_test, business.industry, Thyroid, General Medicine, respiratory tract diseases, medicine.anatomical_structure, Thyroid function, business, Carcinogenesis, Tyrosine kinase
Abstract

Tyrosine kinase inhibitors (TKI) belong to new molecular multi-targeted therapies that are approved for the treatment of haematological and solid tumours. They interact with a large variety of protein tyrosine kinases involved in oncogenesis. In 2005, the first case of hypothyroidism was described and since then, some data have been published and have confirmed that TKI can affect the thyroid function tests (TFT). This review analyses the present clinical and fundamental findings about the effects of TKI on the thyroid function. Various hypotheses have been proposed to explain the effect of TKI on the thyroid function but those are mainly based on clinical observations. Moreover, it appears that TKI could alter the thyroid hormone regulation by mechanisms that are specific to each molecule. The present propositions for the management of TKI-induced hypothyroidism suggest that we assess the TFT of the patients regularly before and during the treatment by TKI. Thus, a better approach of patients with TKI-induced hypothyroidism could improve their quality of life.

Published
2009

10. Usefulness of repeated fine-needle cytology in the follow-up of non-operated thyroid nodules

Author

Frédéric, Illouz, Patrice, Rodien, Jean Paul, Saint-André, Stéphane, Triau, Sandrine, Laboureau-Soares, Séverine, Dubois, Bruno, Vielle, Antoine, Hamy, Hamy, Antoine, and Vincent, Rohmer

Subjects
Adult, Male, Thyroid nodules, medicine.medical_specialty, Cytodiagnosis, Endocrinology, Diabetes and Metabolism, Biopsy, Fine-Needle, Thyroid Gland, Diagnosis, Differential, Endocrinology, Internal medicine, Cytology, Biopsy, medicine, Humans, Thyroid Neoplasms, Retrospective Studies, medicine.diagnostic_test, business.industry, Follow up studies, Reproducibility of Results, Nodule (medicine), General Medicine, Middle Aged, medicine.disease, Female, Radiology, medicine.symptom, business, Follow-Up Studies, Endocrinology department
Abstract

Objective: The usefulness of repeated fine-needle cytology (FNC) in thyroid nodules with benign cytology remains unknown. We analyzed the relevance of repeated FNC to detect suspicious or malignant (S/M) cytologies and carcinomas. Design: A retrospective study (1983–2004) was conducted in our endocrinology department. Methods: We reviewed the reports of 895 adequate FNC performed in 298 patients (298 nodules) during a mean follow-up of 5 years. We compared the nodules with at least one suspicious or malignant FNC (S/M nodules) with nodules with repeatedly benign (RB) FNC (RB nodules). Results: Among the nodules with initial benign cytology, we found 35 nodules with one or more later suspicious or malignant results. The interval between the first FNC and the first S/M FNC was 2.9 years. The probability for a nodule to have a repeated benign FNC decreases with time and with the number of FNC. We did not find any clinical or ultrasonographic characteristics related to an S/M cytology. Seven cancers were detected by the second or the third FNC with S/M results. The proportion of cancers among S/M nodules was similar when S/M cytology appears during the first, the second, or the third FNC. Conclusions: We suggest to repeat FNC up to three adequate samples in the follow-up of thyroid nodules so as not to miss the presence of malignant neoplasm.

Published
2007

11. Ectopic Adrenocorticotropic Hormone-Syndrome in Medullary Carcinoma of the Thyroid: A Retrospective Analysis and Review of the Literature

Author

Bernard Conte-Devolx, Sandrine Laboureau-Soares Barbosa, Sophie Leboulleux, Pr. Vincent Rohmer, Patricia Niccoli-Sire, Philippe Caron, Jean-Louis Kraimps, Patrice Rodien, Françoise Archambeaud-Mouveroux, and Groupe d'étude des Tumeurs Endocrines

Subjects
Adult, Male, medicine.medical_specialty, Pathology, endocrine system diseases, Adenoma, Medullary cavity, Endocrinology, Diabetes and Metabolism, Gastroenterology, Paraneoplastic Endocrine Syndromes, Metastasis, Thyroid carcinoma, Fatal Outcome, Endocrinology, Adrenocorticotropic Hormone, Internal medicine, medicine, Carcinoma, Humans, Thyroid Neoplasms, Aged, Retrospective Studies, business.industry, Thyroid, Middle Aged, Prognosis, medicine.disease, medicine.anatomical_structure, Medullary carcinoma, Carcinoma, Medullary, Female, Complication, business
Abstract

Cushing's syndrome (CS) in medullary thyroid carcinoma (MTC) is rare. Only 50 cases have been reported. We report 10 cases of MTC with ectopic adrenocorticotropic hormone (ACTH)-dependent syndrome (EAS), analyzed retrospectively. Among 1640 patients with MTC, 13 developed EAS (0.7%). In 10 patients CS could unequivoqually be related to MTC (0.6%). CS was always clinically obvious. It revealed MTC in 3 cases and followed diagnosis by an average of 34.5 months in the others. Metastases were often present at diagnosis. Immunohistochemistry with ACTH antibodies was positive in one case. Diagnosis of ectopic CS was established according to clinical and biologic features, and absence of corticotropic adenoma as well as parallel evolution between tumor and CS. Therapy was medical and surgical: anticortisolic drugs alone or in association with somatostatin analogue, somatostatin analogue alone, and bilateral adrenalectomy. Eight patients died within 2 to 30 months, 4 of hypercortisolism complications (3 peritonitis and 1 hypokalaemia), 4 of MTC progression. EAS is a rare complication of MTC. The prognosis is poor because of frequency of metastasis at diagnosis. Persistent hypercortisolism can, by itself, lead to death, and has to be treated specifically.

Published
2005

12. Liver Adenomatosis in MODY 3 Diabetes Mellitus Families: Screening 174 Patients

Author

Anne Rod, Christine Bellanne-Chantelot, Laurence Chiche, Jean-Pierre Riveline, Jean-Francois Gautier, Jose Timsit, Sandrine Laboureau-Soares Barbosa, Lucy Chaillous, Rene Valero, Etienne Larger, Francois Moreau, Jean-Marie Wilhelm, Marc Popelier, Pierre-Jean Guillausseau, Charles Thivolet, Pierre Lecomte, Pierre-Yves Benhamou, and Yves Reznik

Published
2011

13. An elevated level of TSH might be predictive of differentiated thyroid cancer

Author

Frédéric Illouz, Anne Dorange, Sandrine Laboureau-Soares, Stéphanie Mucci-Hennekinne, Vincent Rohmer, Patrice Rodien, Stéphane Triau, Alain Bizon, Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université d'Angers (UA), Biologie Neurovasculaire Intégrée (BNVI), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Stress Oxydant et Pathologies Métaboliques (SOPAM), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM), and Mitochondrie : Régulations et Pathologie

Subjects
Male, Thyrotropin/blood, endocrine system diseases, Endocrinology, Diabetes and Metabolism, [SDV]Life Sciences [q-bio], Thyrotropin, Thyroid Function Tests, Gastroenterology, Carcinoma/blood/diagnosis/pathology, 0302 clinical medicine, Endocrinology, Family history, Young adult, Thyroid cancer, Tumor Markers, medicine.diagnostic_test, Thyroid disease, Cell Differentiation, General Medicine, Middle Aged, Prognosis, 3. Good health, Up-Regulation, 030220 oncology & carcinogenesis, Disease Progression, Female, medicine.symptom, Adult, medicine.medical_specialty, endocrine system, Adolescent, 030209 endocrinology & metabolism, Thyroid function tests, Thyroid carcinoma, 03 medical and health sciences, Young Adult, Internal medicine, Biological/blood, medicine, Biomarkers, Tumor, Humans, Thyroid Neoplasms, Aged, Retrospective Studies, business.industry, Carcinoma, Cancer, Nodule (medicine), medicine.disease, Multivariate Analysis, business, Thyroid Neoplasms/blood/diagnosis/pathology
Abstract

International audience; Suppression therapy of thyreostimulin (TSH) using thyroid hormones improves survival of subjects operated for differentiated thyroid cancer. The TSH level might be different depending on the type of nodule. The objective of this study was to compare retrospectively the TSH level between two groups of subjects who underwent total thyroidectomy for a nodule, matched on sex, ethnicity, age and biological method of TSH measurement, one whose final histology was benign and one malignant. There was no significant difference between the two groups in terms of age, sex, family history of thyroid disease or thyroid autoimmunity. The subjects, whose final histology was malignant, had a mean TSH level significantly higher than subjects with benign disease (1.55 mU/l versus 0.96 mU/l, P=0.003). Cancer risk was greater when the TSH was in the upper tertile of normal range. There was no correlation between the risk of thyroid cancer and age, sex, family history of thyroid disease, or menopausal status. The relative risk of having thyroid carcinoma was higher when the margins of nodules were blurred or in the presence of microcalcifications. These data confirm a trend toward baseline values of TSH higher in subjects with a thyroid-differentiated cancer. However, we could not define a preoperative threshold that would reliably determine the malignant or benign nature of the nodule.

Published
2011

15. [Thyroid dysfunction and pregnancy]

Author

Patrice, Rodien, Régis, Coutant, Claudine, Vasseur, Aline, Bourdelot, Sandrine, Laboureau, and Vincent, Rohmer

Subjects
Pregnancy Complications, Antithyroid Agents, Hypothyroidism, Pregnancy, Humans, Female, Hyperthyroidism
Abstract

The pregnancy is a state of thyroid hyperstimulation, therefore of changes of thyroid hormone values. Results of thyroid hormone measurement have to be analysed in the context of gestation age. Hyperthyroidism, mostly represented by Graves' disease, requires a multidisciplinary management, owing to possible maternal, foetal and neonatal complications. Treatment with antithyroid drugs, is a compromise between the risk of uncontrolled maternal hyperthyroidism and the risk of iatrogenic foetal hypothyroidism. Evaluation of foetal thyroid function considers the titre of thyrotropin receptor antibodies in the mother's blood, the dose of antithyroid drugs to maintain euthyroidism in the mother, and the signs of foetal hyperthyroidism on ultrasound. Maternal hypothyroidism is associated with foetal and maternal morbidity. Untreated or inappropriately treated, it is associated with poorer performances of offspring in intelligence tests. Thyroid autoimmunity is associated with hypofertility, particularly with spontaneous abortion. Screening for thyroid dysfunction during pregnancy, although not systematic, should have broad indications.

Published
2005

17. Ectopic Adrenocorticotropic Hormone-Syndrome in.

Author

Sandrine Laboureau-Soares Barbosa, Patrice Rodien, Sophie Leboulleux, Patricia Niccoli-Sire, Jean-Louis Kraimps, Philippe Caron, Franoise Archambeaud-Mouveroux, Bernard Conte-Devolx, and Vincent Rohmer

Published
2005

18. Ectopic Adrenocorticotropic Hormone-Syndrome in Medullary Carcinoma of the Thyroid: A Retrospective Analysis and Review of the Literature

Author

Barbosa, Sandrine Laboureau-Soares, Rodien, Patrice, Leboulleux, Sophie, Niccoli-Sire, Patricia, Kraimps, Jean-Louis, Caron, Philippe, Archambeaud-Mouveroux, Françoise, Conte-Devolx, Bernard, and Rohmer, Vincent

Abstract

Cushing's syndrome (CS) in medullary thyroid carcinoma (MTC) is rare. Only 50 cases have been reported. We report 10 cases of MTC with ectopic adrenocorticotropic hormone (ACTH)-dependent syndrome (EAS), analyzed retrospectively. Among 1640 patients with MTC, 13 developed EAS (0.7%). In 10 patients CS could unequivoqually be related to MTC (0.6%). CS was always clinically obvious. It revealed MTC in 3 cases and followed diagnosis by an average of 34.5 months in the others. Metastases were often present at diagnosis. Immunohistochemistry with ACTH antibodies was positive in one case. Diagnosis of ectopic CS was established according to clinical and biologic features, and absence of corticotropic adenoma as well as parallel evolution between tumor and CS. Therapy was medical and surgical: anticortisolic drugs alone or in association with somatostatin analogue, somatostatin analogue alone, and bilateral adrenalectomy. Eight patients died within 2 to 30 months, 4 of hypercortisolism complications (3 peritonitis and 1 hypokalaemia), 4 of MTC progression. EAS is a rare complication of MTC. The prognosis is poor because of frequency of metastasis at diagnosis. Persistent hypercortisolism can, by itself, lead to death, and has to be treated specifically.

Published
2005
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