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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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, 4 , 5 , 6 ), somatic RET mutations are the most frequent alterations found in sporadic MTC. Although a large spectrum of RET mutations are described, the commonest alteration is the p.Met918Thr mutation in exon 16 of the RET gene ( 1 ). In

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-20-0589
Volume/Issue:
Volume 10: Issue 2
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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genetic alterations associated with sporadic PC are inactivating somatic mutations of the CDC73/HRPT2 gene. Sporadic PC may also be associated with other abnormalities, including p53 and retinoblastoma gene mutations. Alterations of the PI3K

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
Anne Jouinot Université de Paris, Institut Cochin, INSERM U1016, CNRS UMR8104, Paris, France
Department of Endocrinology, Assistance Publique Hôpitaux de Paris, Hôpital Cochin, Paris, France

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Juliane Lippert Department of Internal Medicine I, Division of Endocrinology and Diabetes, University Hospital, University of Wuerzburg, Wuerzburg, Germany

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Martin Fassnacht Department of Internal Medicine I, Division of Endocrinology and Diabetes, University Hospital, University of Wuerzburg, Wuerzburg, Germany
Comprehensive Cancer Center Mainfranken, University of Wuerzburg, Wuerzburg, Germany

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Bruno de La Villeon Université de Paris, Institut Cochin, INSERM U1016, CNRS UMR8104, Paris, France

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Amandine Septier Université de Paris, Institut Cochin, INSERM U1016, CNRS UMR8104, Paris, France

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Mario Neou Université de Paris, Institut Cochin, INSERM U1016, CNRS UMR8104, Paris, France

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Karine Perlemoine Université de Paris, Institut Cochin, INSERM U1016, CNRS UMR8104, Paris, France

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Silke Appenzeller Department of Internal Medicine I, Division of Endocrinology and Diabetes, University Hospital, University of Wuerzburg, Wuerzburg, Germany

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Mathilde Sibony Université de Paris, Institut Cochin, INSERM U1016, CNRS UMR8104, Paris, France
Department of Pathology, Assistance Publique Hôpitaux de Paris, Hôpital Cochin, Paris, France

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Sébastien Gaujoux Université de Paris, Institut Cochin, INSERM U1016, CNRS UMR8104, Paris, France
Department of Digestive and Endocrine Surgery, Assistance Publique Hôpitaux de Paris, Hôpital Cochin, Paris, France

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Bertrand Dousset Université de Paris, Institut Cochin, INSERM U1016, CNRS UMR8104, Paris, France
Department of Digestive and Endocrine Surgery, Assistance Publique Hôpitaux de Paris, Hôpital Cochin, Paris, France

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Rossella Libe Université de Paris, Institut Cochin, INSERM U1016, CNRS UMR8104, Paris, France
Department of Endocrinology, Assistance Publique Hôpitaux de Paris, Hôpital Cochin, Paris, France

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Lionel Groussin Université de Paris, Institut Cochin, INSERM U1016, CNRS UMR8104, Paris, France
Department of Endocrinology, Assistance Publique Hôpitaux de Paris, Hôpital Cochin, Paris, France

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Cristina L Ronchi Department of Internal Medicine I, Division of Endocrinology and Diabetes, University Hospital, University of Wuerzburg, Wuerzburg, Germany
Institute of Metabolism and System Research, University of Birmingham, Birmingham, UK
Centre for Endocrinology, Diabetes and Metabolism, Birmingham Health Partners, Birmingham, UK

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Guillaume Assié Université de Paris, Institut Cochin, INSERM U1016, CNRS UMR8104, Paris, France
Department of Endocrinology, Assistance Publique Hôpitaux de Paris, Hôpital Cochin, Paris, France

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Jérôme Bertherat Université de Paris, Institut Cochin, INSERM U1016, CNRS UMR8104, Paris, France
Department of Endocrinology, Assistance Publique Hôpitaux de Paris, Hôpital Cochin, Paris, France

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mutations, chromosome alteration and DNA methylation profile, or at the RNA level, including transcriptome and targeted gene expression profiles. Intratumor heterogeneity of somatic mutations has been reported in many cancer types ( 12 , 13 , 14 ). In a

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-20-0228
Volume/Issue:
Volume 9: Issue 7
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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mutations of the RET protooncogene. It accounts for about 20–30% of all MTC cases. Sporadic MTC is mainly related to somatic RET mutations, noticed in approximately 50% of cases ( 1 ). While 18–80% of RET -negative sporadic MTC harbor HRAS, KRAS , or

Article Type:
Review Article
DOI:
https://doi.org/10.1530/EC-20-0374
Volume/Issue:
Volume 9: Issue 12
Open access
Paula Bruna Araujo Department of Internal Medicine and Endocrine Unit, Medical School and Hospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Rio de Janeiro, Brazil
Diagnósticos da América SA, Rio de Janeiro, Rio de Janeiro, Brazil

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Leandro Kasuki Department of Internal Medicine and Endocrine Unit, Medical School and Hospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Rio de Janeiro, Brazil
Neuroendocrinology Unit, Instituto Estadual do Cérebro Paulo Niemeyer, Rio de Janeiro, Rio de Janeiro, Brazil
Endocrinology Unit, Hospital Federal de Bonsucesso, Rio de Janeiro, Rio de Janeiro, Brazil

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Carlos Henrique de Azeredo Lima Molecular Genetics Laboratory, Instituto Estadual do Cérebro Paulo Niemeyer, Rio de Janeiro, Rio de Janeiro, Brazil

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Liana Ogino Molecular Genetics Laboratory, Instituto Estadual do Cérebro Paulo Niemeyer, Rio de Janeiro, Rio de Janeiro, Brazil

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Aline H S Camacho Neuropathology Laboratory Instituto Estadual do Cérebro Paulo Niemeyer, Rio de Janeiro, Rio de Janeiro, Brazil
National Cancer Institute, Rio de Janeiro, Rio de Janeiro, Brazil

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Leila Chimelli Neuropathology Laboratory Instituto Estadual do Cérebro Paulo Niemeyer, Rio de Janeiro, Rio de Janeiro, Brazil

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Márta Korbonits Centre for Endocrinology, William Harvey Research Institute, Barts and The London School of Medicine, Queen Mary University of London, Charterhouse Square, London, UK

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Monica R Gadelha Department of Internal Medicine and Endocrine Unit, Medical School and Hospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Rio de Janeiro, Brazil
Molecular Genetics Laboratory, Instituto Estadual do Cérebro Paulo Niemeyer, Rio de Janeiro, Rio de Janeiro, Brazil
Neuroendocrinology Unit, Instituto Estadual do Cérebro Paulo Niemeyer, Rio de Janeiro, Rio de Janeiro, Brazil

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.2)/Cell Marque, dilution 1:2000) to differentiate sparsely from densely granulated tumors. Nine frozen and three paraffin-embedded tissue samples of the enrolled patients were available for genetic screening for somatic AIP gene mutations. In cases

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-17-0237
Volume/Issue:
Volume 6: Issue 8
Open access
Elena Pardi Endocrine Unit 2, Endocrinology Unit, Institute of Pathology, Department of Surgical, Department of Clinical and Experimental Medicine, University Hospital of Pisa, University of Pisa, Via Paradisa 2, Pisa, Italy

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Stefano Mariotti Endocrine Unit 2, Endocrinology Unit, Institute of Pathology, Department of Surgical, Department of Clinical and Experimental Medicine, University Hospital of Pisa, University of Pisa, Via Paradisa 2, Pisa, Italy

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Natalia S Pellegata Endocrine Unit 2, Endocrinology Unit, Institute of Pathology, Department of Surgical, Department of Clinical and Experimental Medicine, University Hospital of Pisa, University of Pisa, Via Paradisa 2, Pisa, Italy

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Katiuscia Benfini Endocrine Unit 2, Endocrinology Unit, Institute of Pathology, Department of Surgical, Department of Clinical and Experimental Medicine, University Hospital of Pisa, University of Pisa, Via Paradisa 2, Pisa, Italy

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Simona Borsari Endocrine Unit 2, Endocrinology Unit, Institute of Pathology, Department of Surgical, Department of Clinical and Experimental Medicine, University Hospital of Pisa, University of Pisa, Via Paradisa 2, Pisa, Italy

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Federica Saponaro Endocrine Unit 2, Endocrinology Unit, Institute of Pathology, Department of Surgical, Department of Clinical and Experimental Medicine, University Hospital of Pisa, University of Pisa, Via Paradisa 2, Pisa, Italy

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Liborio Torregrossa Endocrine Unit 2, Endocrinology Unit, Institute of Pathology, Department of Surgical, Department of Clinical and Experimental Medicine, University Hospital of Pisa, University of Pisa, Via Paradisa 2, Pisa, Italy

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Antonello Cappai Endocrine Unit 2, Endocrinology Unit, Institute of Pathology, Department of Surgical, Department of Clinical and Experimental Medicine, University Hospital of Pisa, University of Pisa, Via Paradisa 2, Pisa, Italy

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Chiara Satta Endocrine Unit 2, Endocrinology Unit, Institute of Pathology, Department of Surgical, Department of Clinical and Experimental Medicine, University Hospital of Pisa, University of Pisa, Via Paradisa 2, Pisa, Italy

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Marco Mastinu Endocrine Unit 2, Endocrinology Unit, Institute of Pathology, Department of Surgical, Department of Clinical and Experimental Medicine, University Hospital of Pisa, University of Pisa, Via Paradisa 2, Pisa, Italy

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Claudio Marcocci Endocrine Unit 2, Endocrinology Unit, Institute of Pathology, Department of Surgical, Department of Clinical and Experimental Medicine, University Hospital of Pisa, University of Pisa, Via Paradisa 2, Pisa, Italy

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Filomena Cetani Endocrine Unit 2, Endocrinology Unit, Institute of Pathology, Department of Surgical, Department of Clinical and Experimental Medicine, University Hospital of Pisa, University of Pisa, Via Paradisa 2, Pisa, Italy

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/168 in its C-terminal part. Although CDKN1B is considered to be a tumor suppressor gene, somatic loss-of-function mutations in this gene have rarely been detected in different cancers (17, 18, 19) . Conversely, loss or decreased expression of the P27

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-14-0116
Volume/Issue:
Volume 4: Issue 1
Open access
Benjamin G Challis Metabolic Research Laboratories, Wellcome Trust-MRC Institute of Metabolic Science, University of Cambridge and National Institute for Health Research Cambridge Biomedical Research Centre, Addenbrooke’s Hospital, Cambridge, UK
Wolfson Diabetes and Endocrine Centre, Addenbrooke’s Hospital, Cambridge, UK
IMED Biotech Unit, Clinical Discovery Unit, AstraZeneca, UK

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Andrew S Powlson Metabolic Research Laboratories, Wellcome Trust-MRC Institute of Metabolic Science, University of Cambridge and National Institute for Health Research Cambridge Biomedical Research Centre, Addenbrooke’s Hospital, Cambridge, UK
Wolfson Diabetes and Endocrine Centre, Addenbrooke’s Hospital, Cambridge, UK

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Ruth T Casey Wolfson Diabetes and Endocrine Centre, Addenbrooke’s Hospital, Cambridge, UK

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Carla Pearson Wolfson Diabetes and Endocrine Centre, Addenbrooke’s Hospital, Cambridge, UK

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Brian Y Lam Metabolic Research Laboratories, Wellcome Trust-MRC Institute of Metabolic Science, University of Cambridge and National Institute for Health Research Cambridge Biomedical Research Centre, Addenbrooke’s Hospital, Cambridge, UK

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Marcella Ma Metabolic Research Laboratories, Wellcome Trust-MRC Institute of Metabolic Science, University of Cambridge and National Institute for Health Research Cambridge Biomedical Research Centre, Addenbrooke’s Hospital, Cambridge, UK

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Deborah Pitfield Wolfson Diabetes and Endocrine Centre, Addenbrooke’s Hospital, Cambridge, UK

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Giles S H Yeo Metabolic Research Laboratories, Wellcome Trust-MRC Institute of Metabolic Science, University of Cambridge and National Institute for Health Research Cambridge Biomedical Research Centre, Addenbrooke’s Hospital, Cambridge, UK

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Edmund Godfrey Department of Radiology, Addenbrooke’s Hospital, Cambridge, UK

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Heok K Cheow Department of Radiology, Addenbrooke’s Hospital, Cambridge, UK
Department of Nuclear Medicine, Addenbrooke’s Hospital, Cambridge, UK

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V Krishna Chatterjee Metabolic Research Laboratories, Wellcome Trust-MRC Institute of Metabolic Science, University of Cambridge and National Institute for Health Research Cambridge Biomedical Research Centre, Addenbrooke’s Hospital, Cambridge, UK
Wolfson Diabetes and Endocrine Centre, Addenbrooke’s Hospital, Cambridge, UK

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Nicholas R Carroll Department of Radiology, Addenbrooke’s Hospital, Cambridge, UK

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Ashley Shaw Department of Radiology, Addenbrooke’s Hospital, Cambridge, UK

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John R Buscombe Department of Radiology, Addenbrooke’s Hospital, Cambridge, UK
Department of Nuclear Medicine, Addenbrooke’s Hospital, Cambridge, UK

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Helen L Simpson Department of Diabetes and Endocrinology, UCLH NHS Foundation Trust, London, UK

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, and associated with multiple endocrine neoplasia (MEN)-1 ( 1 ). Although single-copy deletion and somatic mutations in Menin have been identified in some sporadic insulinoma, it is now recognised that a recurrent somatic mutation in the transcription

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-17-0076
Volume/Issue:
Volume 6: Issue 7
Open access
Tiemo S Gerber Endocrine Surgery Section, Department of General, Visceral and Transplantation Surgery, University Medicine, Mainz, Germany

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Arno Schad Department of Pathology, University Medicine, Mainz, Germany

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Nils Hartmann Department of Pathology, University Medicine, Mainz, Germany

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Erik Springer Department of Pathology, University Medicine, Mainz, Germany

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Ulrich Zechner Institute of Human Genetics, University Medicine, Mainz, Germany

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Thomas J Musholt Endocrine Surgery Section, Department of General, Visceral and Transplantation Surgery, University Medicine, Mainz, Germany

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address the progression from well-differentiated thyroid carcinoma (WDTC) to PDTC. BRAF , TP53 , RAS While tumour-initiating somatic mutations leading to papillary thyroid carcinoma have been researched to a great extent, it remains uncertain

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-17-0290
Volume/Issue:
Volume 7: Issue 1
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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extent normal cell admixture may have contributed to the allelic count. We also excluded, by Sanger sequencing, the presence of an additional somatic MAX mutation, which might have functioned as the second hit in the absence of LOH in the DNA extracted

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-20-0460
Volume/Issue:
Volume 9: Issue 10
Open access
Joakim Crona Departments of Surgical Sciences, Medical Sciences, Uppsala University, S-751 85 Uppsala, Sweden

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Alberto Delgado Verdugo Departments of Surgical Sciences, Medical Sciences, Uppsala University, S-751 85 Uppsala, Sweden

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Dan Granberg Departments of Surgical Sciences, Medical Sciences, Uppsala University, S-751 85 Uppsala, Sweden

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Staffan Welin Departments of Surgical Sciences, Medical Sciences, Uppsala University, S-751 85 Uppsala, Sweden

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Peter Stålberg Departments of Surgical Sciences, Medical Sciences, Uppsala University, S-751 85 Uppsala, Sweden

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Per Hellman Departments of Surgical Sciences, Medical Sciences, Uppsala University, S-751 85 Uppsala, Sweden

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Peyman Björklund Departments of Surgical Sciences, Medical Sciences, Uppsala University, S-751 85 Uppsala, Sweden

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of underlying molecular mechanisms in the tumorigenesis of these diseases has increased dramatically during the last decade (1) . Up to 80% of all PCC and PGL could have either germline or somatic mutations (2, 3, 4) in one of the 11 hitherto known

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-13-0009
Volume/Issue:
Volume 2: Issue 2
Open access