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  • hereditary tumor syndrome x
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Sofia Maria Lider Burciulescu University of Medicine and Pharmacy Carol Davila Bucharest, Bucharest, Romania
National Institute of Endocrinology CI Parhon, Bucharest, Romania

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Monica Livia Gheorghiu University of Medicine and Pharmacy Carol Davila Bucharest, Bucharest, Romania
National Institute of Endocrinology CI Parhon, Bucharest, Romania

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Andrei Muresan National Institute of Endocrinology CI Parhon, Bucharest, Romania

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Iuliana Gherlan University of Medicine and Pharmacy Carol Davila Bucharest, Bucharest, Romania
National Institute of Endocrinology CI Parhon, Bucharest, Romania

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Attila Patocs Department of Laboratory Medicine and Molecular Genetics, Clinical Genetics and Endocrinology Laboratory, Semmelweis University National Institute of Oncology, Budapest, Hungary

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Corin Badiu University of Medicine and Pharmacy Carol Davila Bucharest, Bucharest, Romania
National Institute of Endocrinology CI Parhon, Bucharest, Romania

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sweating, palpitations), life-threatening arrhythmia, stroke, or even death ( 1 ). Most PHEOs are rare sporadic unilateral adrenal tumors. However, 25–45% are hereditary ( 2 ). Bilateral PHEOs are very rare (7–10% of PHEOs); between 60% and 90% of the

Article Type:
Research Article
Collections:
Adrenal
DOI:
https://doi.org/10.1530/EC-23-0466
Volume/Issue:
Volume 13: Issue 4
Open access
Natalie Rogowski-Lehmann Medizinische Klinik und Poliklinik IV, Klinikum der Universität München, Munich, Germany

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Aikaterini Geroula Institut für Klinische Chemie und Laboratoriumsmedizin, Universitätsklinikum Carl Gustav Carus an der TU Dresden, Dresden, Germany

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Aleksander Prejbisz Department of Hypertension, Institute of Cardiology, Warsaw, Poland

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Henri J L M Timmers Section of Endocrinology, Department of Internal Medicine, Radboud University Medical Centre, Nijmegen, The Netherlands

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Felix Megerle Medizinische Klinik und Poliklinik I des Universitätsklinikums Würzburg, Würzburg, Germany

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Mercedes Robledo Hereditary Endocrine Cancer Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre, Centro de Investigacion Biomedica en Red de Enfermedades Raras (CIBERER), Madrid, Spain

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Martin Fassnacht Medizinische Klinik und Poliklinik I des Universitätsklinikums Würzburg, Würzburg, Germany

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Stephanie M J Fliedner First Department of Medicine, University Medical Center Schleswig-Holstein, Lübeck, Germany

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Martin Reincke Medizinische Klinik und Poliklinik IV, Klinikum der Universität München, Munich, Germany

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Anthony Stell Department of Computing and Information, University of Melbourne, Melbourne Australia

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Andrzej Januszewicz Department of Hypertension, Institute of Cardiology, Warsaw, Poland

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Jacques W M Lenders Section of Endocrinology, Department of Internal Medicine, Radboud University Medical Centre, Nijmegen, The Netherlands
Medizinische Klinik III, Universitätsklinikum Carl Gustav Carus an der Technische Universität Dresden, Dresden, Germany

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Graeme Eisenhofer Institut für Klinische Chemie und Laboratoriumsmedizin, Universitätsklinikum Carl Gustav Carus an der TU Dresden, Dresden, Germany
Medizinische Klinik III, Universitätsklinikum Carl Gustav Carus an der Technische Universität Dresden, Dresden, Germany

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Felix Beuschlein Medizinische Klinik und Poliklinik IV, Klinikum der Universität München, Munich, Germany
Klinik für Endokrinologie, Diabetologie und Klinische Ernährung, Universitätsspital Zürich, Zürich, Switzerland

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affected by germline mutations of tumor-susceptibility genes that considerably increase the risk to develop additional PPGLs at new sites and other syndrome-related neoplasms ( 2 , 10 ). To date, at least 16 genes have been identified to be responsible for

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-18-0318
Volume/Issue:
Volume 7: Issue 11
Open access
Carole Morin Hospices Civils de Lyon, Hôpital Edouard Herriot, Oncologie Digestive, Lyon Cedex 03, France

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Keo-Morakort Benedetto Hospices Civils de Lyon, Hôpital Edouard Herriot, Oncologie Digestive, Lyon Cedex 03, France

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Agathe Deville Hospices Civils de Lyon, Hôpital Louis Pradel, Médecine Nucléaire, Bron, France
Centre de Recherche en Cancérologie de Lyon, UMR Inserm 1052 CNRS 5286, Lyon Cedex 08, France

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Laurent Milot Hospices Civils de Lyon, Hôpital Edouard Herriot, Radiologie, Lyon Cedex 03, France
University of Lyon, Université Lyon 1, France

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Aurélie Theillaumas Hospices Civils de Lyon, Hôpital Edouard Herriot, Oncologie Digestive, Lyon Cedex 03, France

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Valérie Hervieu Centre de Recherche en Cancérologie de Lyon, UMR Inserm 1052 CNRS 5286, Lyon Cedex 08, France
University of Lyon, Université Lyon 1, France
Hospices Civils de Lyon, Institut de Pathologie Est, Bron Cedex, France

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Mathieu Pioche University of Lyon, Université Lyon 1, France
Hospices Civils de Lyon, Hôpital Edouard Herriot, Gastroentérologie, Lyon Cedex 03, France

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Gilles Poncet Centre de Recherche en Cancérologie de Lyon, UMR Inserm 1052 CNRS 5286, Lyon Cedex 08, France
University of Lyon, Université Lyon 1, France
Hospices Civils de Lyon, Hôpital Edouard Herriot, Chirurgie Digestive, Lyon Cedex 03, France

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Julien Forestier Hospices Civils de Lyon, Hôpital Edouard Herriot, Oncologie Digestive, Lyon Cedex 03, France

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Laurent François Hospices Civils de Lyon, Hôpital Louis Pradel, Exploration Fonctionnelle, Bron Cedex, France

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Francoise Borson-Chazot University of Lyon, Université Lyon 1, France
Hospices Civils de Lyon, Hôpital Louis Pradel, Endocrinologie, Bron Cedex, France

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Mustapha Adham University of Lyon, Université Lyon 1, France
Hospices Civils de Lyon, Hôpital Edouard Herriot, Chirurgie Digestive, Lyon Cedex 03, France

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Catherine Lombard-Bohas Hospices Civils de Lyon, Hôpital Edouard Herriot, Oncologie Digestive, Lyon Cedex 03, France

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Thomas Walter Hospices Civils de Lyon, Hôpital Edouard Herriot, Oncologie Digestive, Lyon Cedex 03, France
Centre de Recherche en Cancérologie de Lyon, UMR Inserm 1052 CNRS 5286, Lyon Cedex 08, France
University of Lyon, Université Lyon 1, France

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neuroendocrine carcinomas (NEC). To this end, the European Neuroendocrine Tumor Society (ENETS) has accredited 62 Centers of Excellence (CoE) around the world which aim to improve the diagnosis and therapy of patients with NEN in an international and

Article Type:
Research Article
Collections:
Hormones and Cancer
DOI:
https://doi.org/10.1530/EC-22-0097
Volume/Issue:
Volume 11: Issue 6
Open access
Yiqiang Huang Department of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, People’s Republic of China

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Lin-ang Wang Department of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, People’s Republic of China

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Qiubo Xie Department of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, People’s Republic of China

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Jian Pang Department of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, People’s Republic of China

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Luofu Wang Department of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, People’s Republic of China

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Yuting Yi Geneplus-Beijing Institute, Beijing, People’s Republic of China

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Jun Zhang Department of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, People’s Republic of China

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Yao Zhang Department of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, People’s Republic of China

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Rongrong Chen Geneplus-Beijing Institute, Beijing, People’s Republic of China

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Weihua Lan Department of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, People’s Republic of China

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Dianzheng Zhang Department of Bio-Medical Sciences, Philadelphia College of Osteopathic Medicine, Philadelphia, Pennsylvania, USA

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Jun Jiang Department of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, People’s Republic of China

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pediatric cases, 38% of malignant tumors and more than 80% of familial aggregations of PGL and PCC ( 14 ). Germline mutations in the SDHB gene are associated with hereditary paraganglioma syndrome type 4 (PGL4), while germline mutations of SDHD are

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-18-0325
Volume/Issue:
Volume 7: Issue 12
Open access
M Ingenwerth Institute of Pathology, University Hospital of Essen, University of Duisburg–Essen, Essen, Germany

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T Brandenburg Division of Laboratory Research, Department of Endocrinology, Diabetes and Metabolism and Clinical Chemistry, University Hospital Essen, University of Duisburg-Essen, Germany

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D Führer-Sakel Division of Laboratory Research, Department of Endocrinology, Diabetes and Metabolism and Clinical Chemistry, University Hospital Essen, University of Duisburg-Essen, Germany

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M Goetz Institute of Pathology, University Hospital of Essen, University of Duisburg–Essen, Essen, Germany

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F Weber Department of General, Visceral and Transplantation Surgery, University Hospital Essen, University of Duisburg-Essen, Essen, Germany

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H Dralle Department of General, Visceral and Transplantation Surgery, University Hospital Essen, University of Duisburg-Essen, Essen, Germany

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H-U Schildhaus Institute of Pathology, University Hospital of Essen, University of Duisburg–Essen, Essen, Germany

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K W Schmid Institute of Pathology, University Hospital of Essen, University of Duisburg–Essen, Essen, Germany

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S Theurer Institute of Pathology, University Hospital of Essen, University of Duisburg–Essen, Essen, Germany

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thyroid cancer-associated deaths ( 1 , 2 ). They can occur either as part of hereditary syndromes (<30% of all MTC) in multiple endocrine neoplasias (MEN) 2A or 2B with germline mutations in the RET proto-oncogene or as sporadic tumors with approximately

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-20-0611
Volume/Issue:
Volume 10: Issue 3
Open access
Malgorzata Oczko-Wojciechowska Department of Genetic and Molecular Diagnostics of Cancer, M. Sklodowska-Curie Institute National Research Institute of Oncology Gliwice Branch, Gliwice, Poland

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Agnieszka Czarniecka Oncologic and Reconstructive Surgery Clinic, M. Sklodowska-Curie Institute National Research Institute of Oncology Gliwice Branch, Gliwice, Poland

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Tomasz Gawlik Nuclear Medicine and Endocrine Oncology Department, M. Sklodowska-Curie Institute National Research Institute of Oncology Gliwice Branch, Gliwice, Poland

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Barbara Jarzab Nuclear Medicine and Endocrine Oncology Department, M. Sklodowska-Curie Institute National Research Institute of Oncology Gliwice Branch, Gliwice, Poland

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Jolanta Krajewska Nuclear Medicine and Endocrine Oncology Department, M. Sklodowska-Curie Institute National Research Institute of Oncology Gliwice Branch, Gliwice, Poland

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Introduction Medullary thyroid cancer (MTC) is a rare, malignant neoplasm from the C-cell of the thyroid, which occurs in sporadic and hereditary forms. Hereditary MTC develops in the course of MEN2A and MEN2B syndromes due to germline

Article Type:
Review Article
DOI:
https://doi.org/10.1530/EC-20-0374
Volume/Issue:
Volume 9: Issue 12
Open access
Sara Lomelino Pinheiro Serviço de Endocrinologia, Instituto Português de Oncologia de Lisboa Francisco Gentil, Lisboa, Portugal

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Ana Saramago Unidade de Investigação em Patobiologia Molecular, Instituto Português de Oncologia de Lisboa Francisco Gentil, Lisboa, Portugal

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Branca Maria Cavaco Unidade de Investigação em Patobiologia Molecular, Instituto Português de Oncologia de Lisboa Francisco Gentil, Lisboa, Portugal

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Carmo Martins Unidade de Investigação em Patobiologia Molecular, Instituto Português de Oncologia de Lisboa Francisco Gentil, Lisboa, Portugal

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Valeriano Leite Serviço de Endocrinologia e Unidade de Investigação em Patobiologia Molecular, Instituto Português de Oncologia de Lisboa Francisco Gentil, Lisboa, Portugal

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Tiago Nunes da Silva Serviço de Endocrinologia e Unidade de Investigação em Patobiologia Molecular, Instituto Português de Oncologia de Lisboa Francisco Gentil, Lisboa, Portugal

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hereditary cancer syndrome and solid tumor-related genes were examined in the PC and PA DNAs (NGS multigene analysis: commercial TruSight Cancer panel, Illumina, CA, USA; custom designed panel of 113 genes, protocol Sureselect XT Target Enrichment System

Article Type:
Research Article
Collections:
Bone and Mineral Metabolism
DOI:
https://doi.org/10.1530/EC-22-0479
Volume/Issue:
Volume 12: Issue 9
Open access
Felix Reschke Auf Der Bult Children’s Hospital, Centre for Paediatric Endocrinology, Diabetology, and Clinical Research, Hannover, Germany

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Torben Biester Auf Der Bult Children’s Hospital, Centre for Paediatric Endocrinology, Diabetology, and Clinical Research, Hannover, Germany

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Thekla von dem Berge Auf Der Bult Children’s Hospital, Centre for Paediatric Endocrinology, Diabetology, and Clinical Research, Hannover, Germany

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Dagmar Jamiolkowski Auf Der Bult Children’s Hospital, Department of Paediatric Dermatology, Hannover, Germany

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Laura Hasse Auf Der Bult Children’s Hospital, Department of Paediatric Dermatology, Hannover, Germany

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Francesca Dassie Padua University Hospital, Clinica Medica 3, Department of Medicine (DIMED), Padova, Veneto, Italy

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Pietro Maffei Padua University Hospital, Clinica Medica 3, Department of Medicine (DIMED), Padova, Veneto, Italy

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Katharina Klee Auf Der Bult Children’s Hospital, Centre for Paediatric Endocrinology, Diabetology, and Clinical Research, Hannover, Germany

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Olga Kordonouri Auf Der Bult Children’s Hospital, Centre for Paediatric Endocrinology, Diabetology, and Clinical Research, Hannover, Germany

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Hagen Ott Auf Der Bult Children’s Hospital, Department of Paediatric Dermatology, Hannover, Germany

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Thomas Danne Auf Der Bult Children’s Hospital, Centre for Paediatric Endocrinology, Diabetology, and Clinical Research, Hannover, Germany

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its rarity, makes the diagnosis particularly difficult ( 28 ). Alström syndrome Alström syndrome is a rare hereditary disease characterised by a variety of symptoms. These include, among others, photophobia and increasing blindness of the

Article Type:
Review Article
Collections:
Metabolic Syndrome and Diabetes
DOI:
https://doi.org/10.1530/EC-22-0410
Volume/Issue:
Volume 12: Issue 7
Open access
Catherine Cardot Bauters CHU Lille, Service d’Endocrinologie, Diabétologie, Métabolisme-Nutrition, Hôpital Claude Huriez, Lille, France

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Emmanuelle Leteurtre Univ. Lille, Inserm, CHU Lille, UMR-S 1277-CANTHER, Cancer Heterogeneity, Plasticity & Resistance to Therapies, Lille, France

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Bruno Carnaille CHU Lille, Service de Chirurgie Endocrine, Hôpital Claude Huriez, Lille, France

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Christine Do Cao CHU Lille, Service d’Endocrinologie, Diabétologie, Métabolisme-Nutrition, Hôpital Claude Huriez, Lille, France

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Stéphanie Espiard CHU Lille, Service d’Endocrinologie, Diabétologie, Métabolisme-Nutrition, Hôpital Claude Huriez, Lille, France

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Malo Penven CHU Lille, Service de Biochimie Hormonologie, Métabolisme, Nutrition-Oncologie, Centre de Biologie Pathologie Génétique, Lille, France

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Evelyne Destailleur CHU Lille, Service de Biochimie Hormonologie, Métabolisme, Nutrition-Oncologie, Centre de Biologie Pathologie Génétique, Lille, France

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Isabelle Szuster CHU Lille, Service de Biochimie Hormonologie, Métabolisme, Nutrition-Oncologie, Centre de Biologie Pathologie Génétique, Lille, France

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Tonio Lovecchio CHU Lille, Service de Biochimie Hormonologie, Métabolisme, Nutrition-Oncologie, Centre de Biologie Pathologie Génétique, Lille, France

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Julie Leclerc Univ. Lille, Inserm, CHU Lille, UMR-S 1277-CANTHER, Cancer Heterogeneity, Plasticity & Resistance to Therapies, Lille, France
CHU Lille, Service de Biochimie Hormonologie, Métabolisme, Nutrition-Oncologie, Centre de Biologie Pathologie Génétique, Lille, France

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Fredéric Frénois Univ. Lille, CHU Lille, EA-7364 RADEME, Faculté de Médecine, Lille, France

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Emmanuel Esquivel Dept Medicine, Mays Cancer Center, University of Texas Health Science Center at San Antonio, San Antonio, Texas, USA

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Patricia L M Dahia Dept Medicine, Mays Cancer Center, University of Texas Health Science Center at San Antonio, San Antonio, Texas, USA

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Emilie Ait-Yahya CHU Lille, Institut de Biochimie & Biologie Moléculaire, Centre de Biologie Pathologie Génétique, Lille, France

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Michel Crépin CHU Lille, Service de Biochimie Hormonologie, Métabolisme, Nutrition-Oncologie, Centre de Biologie Pathologie Génétique, Lille, France

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Pascal Pigny CHU Lille, Service de Biochimie Hormonologie, Métabolisme, Nutrition-Oncologie, Centre de Biologie Pathologie Génétique, Lille, France

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halos differentiate hereditary leiomyomatosis and RCC-associated RCC from kidney tumors without FH gene alteration . Modern Pathology 2018 31 974 – 9 83 . ( https://doi.org/10.1038/s41379-018-0017-7 ) 18 Maiti R van Domselaar GH Zhang H

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-20-0460
Volume/Issue:
Volume 9: Issue 10
Open access
Cristina Romei Endocrine Unit, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy

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Teresa Ramone Endocrine Unit, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy

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Chiara Mulè Endocrine Unit, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy

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Alessandro Prete Endocrine Unit, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy

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Virginia Cappagli Endocrine Unit, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy

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Loredana Lorusso Endocrine Unit, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy

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Liborio Torregrossa Department of Surgical, Medical, Molecular Pathology, University of Pisa, Pisa, Italy

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Fulvio Basolo Department of Surgical, Medical, Molecular Pathology, University of Pisa, Pisa, Italy

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Raffaele Ciampi Endocrine Unit, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy

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Rossella Elisei Endocrine Unit, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy

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Introduction Medullary Thyroid Carcinoma (MTC) accounts for about 5–7% of all thyroid cancer and can occur in a hereditary (25%) or a sporadic form (75%) ( 1 ). According to the Next Generation Studies published in the last years ( 2 , 3

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-20-0589
Volume/Issue:
Volume 10: Issue 2
Open access