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Eyun Song Department of Internal Medicine, Asan Medical Center, University of Ulsan College of Medicine, Songpa-gu, Seoul, Republic of Korea

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Dong Eun Song Department of Pathology, Asan Medical Center, University of Ulsan College of Medicine, Songpa-gu, Seoul, Republic of Korea

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Jonghwa Ahn Department of Internal Medicine, Asan Medical Center, University of Ulsan College of Medicine, Songpa-gu, Seoul, Republic of Korea

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Tae Yong Kim Department of Internal Medicine, Asan Medical Center, University of Ulsan College of Medicine, Songpa-gu, Seoul, Republic of Korea

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Won Bae Kim Department of Internal Medicine, Asan Medical Center, University of Ulsan College of Medicine, Songpa-gu, Seoul, Republic of Korea

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Young Kee Shong Department of Internal Medicine, Asan Medical Center, University of Ulsan College of Medicine, Songpa-gu, Seoul, Republic of Korea

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Min Ji Jeon Department of Internal Medicine, Asan Medical Center, University of Ulsan College of Medicine, Songpa-gu, Seoul, Republic of Korea

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Won Gu Kim Department of Internal Medicine, Asan Medical Center, University of Ulsan College of Medicine, Songpa-gu, Seoul, Republic of Korea

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lymph node metastases, and increased cancer-related mortality ( Kim et al. 2012 , Li et al. 2012 , Xing et al. 2013 ). Genetic alterations involving RAS -family genes comprise another distinct feature of DTCs ( Nikiforov 2008 , Prior et al

Article Type:
Research Article
DOI:
https://doi.org/10.1530/ERC-19-0452
Volume/Issue:
Volume 27: Issue 5
Restricted access
Alberto Cascón Hereditary Endocrine Cancer Group, ISCIII Center for Biomedical Research on Rare Diseases (CIBERER), Department of Pediatric Oncology, Endocrinology Division, Department of Endocrinology and Nutrition, Endocrinology Service, Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Melchor Fernández Almagro 3, 28029 Madrid, Spain
Hereditary Endocrine Cancer Group, ISCIII Center for Biomedical Research on Rare Diseases (CIBERER), Department of Pediatric Oncology, Endocrinology Division, Department of Endocrinology and Nutrition, Endocrinology Service, Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Melchor Fernández Almagro 3, 28029 Madrid, Spain

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Lucía Inglada-Pérez Hereditary Endocrine Cancer Group, ISCIII Center for Biomedical Research on Rare Diseases (CIBERER), Department of Pediatric Oncology, Endocrinology Division, Department of Endocrinology and Nutrition, Endocrinology Service, Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Melchor Fernández Almagro 3, 28029 Madrid, Spain
Hereditary Endocrine Cancer Group, ISCIII Center for Biomedical Research on Rare Diseases (CIBERER), Department of Pediatric Oncology, Endocrinology Division, Department of Endocrinology and Nutrition, Endocrinology Service, Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Melchor Fernández Almagro 3, 28029 Madrid, Spain

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Iñaki Comino-Méndez Hereditary Endocrine Cancer Group, ISCIII Center for Biomedical Research on Rare Diseases (CIBERER), Department of Pediatric Oncology, Endocrinology Division, Department of Endocrinology and Nutrition, Endocrinology Service, Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Melchor Fernández Almagro 3, 28029 Madrid, Spain

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Aguirre A de Cubas Hereditary Endocrine Cancer Group, ISCIII Center for Biomedical Research on Rare Diseases (CIBERER), Department of Pediatric Oncology, Endocrinology Division, Department of Endocrinology and Nutrition, Endocrinology Service, Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Melchor Fernández Almagro 3, 28029 Madrid, Spain

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Rocío Letón Hereditary Endocrine Cancer Group, ISCIII Center for Biomedical Research on Rare Diseases (CIBERER), Department of Pediatric Oncology, Endocrinology Division, Department of Endocrinology and Nutrition, Endocrinology Service, Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Melchor Fernández Almagro 3, 28029 Madrid, Spain

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Jaume Mora Hereditary Endocrine Cancer Group, ISCIII Center for Biomedical Research on Rare Diseases (CIBERER), Department of Pediatric Oncology, Endocrinology Division, Department of Endocrinology and Nutrition, Endocrinology Service, Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Melchor Fernández Almagro 3, 28029 Madrid, Spain

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Mónica Marazuela Hereditary Endocrine Cancer Group, ISCIII Center for Biomedical Research on Rare Diseases (CIBERER), Department of Pediatric Oncology, Endocrinology Division, Department of Endocrinology and Nutrition, Endocrinology Service, Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Melchor Fernández Almagro 3, 28029 Madrid, Spain

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Juan Carlos Galofré Hereditary Endocrine Cancer Group, ISCIII Center for Biomedical Research on Rare Diseases (CIBERER), Department of Pediatric Oncology, Endocrinology Division, Department of Endocrinology and Nutrition, Endocrinology Service, Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Melchor Fernández Almagro 3, 28029 Madrid, Spain

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Miguel Quesada-Charneco Hereditary Endocrine Cancer Group, ISCIII Center for Biomedical Research on Rare Diseases (CIBERER), Department of Pediatric Oncology, Endocrinology Division, Department of Endocrinology and Nutrition, Endocrinology Service, Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Melchor Fernández Almagro 3, 28029 Madrid, Spain

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Mercedes Robledo Hereditary Endocrine Cancer Group, ISCIII Center for Biomedical Research on Rare Diseases (CIBERER), Department of Pediatric Oncology, Endocrinology Division, Department of Endocrinology and Nutrition, Endocrinology Service, Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Melchor Fernández Almagro 3, 28029 Madrid, Spain
Hereditary Endocrine Cancer Group, ISCIII Center for Biomedical Research on Rare Diseases (CIBERER), Department of Pediatric Oncology, Endocrinology Division, Department of Endocrinology and Nutrition, Endocrinology Service, Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Melchor Fernández Almagro 3, 28029 Madrid, Spain

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patients develop extra-adrenal tumors ( Cascon et al . 2009 b , Mannelli et al . 2009 ), the percentage of malignant cases depends on tumor location and/or genetic background (from ∼3% in RET- or VHL-related cases to 31% described for SDHB mutation

Article Type:
Journal Article
DOI:
https://doi.org/10.1530/ERC-12-0339
Volume/Issue:
Volume 20: Issue 3
Free access
A Perren
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S Schmid
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T Locher
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P Saremaslani
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C Bonvin
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P U Heitz
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P Komminoth
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tumors including pheochromocytomas (PCCs), paragangliomas (PGLs) and medullary thyorid carcinomas (MTCs) evolve from neural-crest-derived cells ( Pasini et al. 1996 ). Secondly, on a molecular genetic level, activation of tyrosine kinases ( Ret

Article Type:
Research Article
DOI:
https://doi.org/10.1677/erc.1.00841
Volume/Issue:
Volume 11: Issue 4
Free access
Silvia Pizzi
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Cinzia Azzoni
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Elisa Tamburini
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Lorena Bottarelli
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Nicoletta Campanini
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Tiziana D'Adda
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Giovanni Fellegara
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Tu Vinh Luong
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Claudio Pasquali Section of Pathological Anatomy, Department of Medical and Surgical Sciences, Section of Pathology, Digestive and Liver Disease Unit, Medical Oncology Unit, Department of Pathology and Laboratory Medicine, University of Parma, via Gramsci, 14, I-43100 Parma, Italy

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Giulio Rossi Section of Pathological Anatomy, Department of Medical and Surgical Sciences, Section of Pathology, Digestive and Liver Disease Unit, Medical Oncology Unit, Department of Pathology and Laboratory Medicine, University of Parma, via Gramsci, 14, I-43100 Parma, Italy

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Gianfranco Delle Fave Section of Pathological Anatomy, Department of Medical and Surgical Sciences, Section of Pathology, Digestive and Liver Disease Unit, Medical Oncology Unit, Department of Pathology and Laboratory Medicine, University of Parma, via Gramsci, 14, I-43100 Parma, Italy

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Roberta Camisa Section of Pathological Anatomy, Department of Medical and Surgical Sciences, Section of Pathology, Digestive and Liver Disease Unit, Medical Oncology Unit, Department of Pathology and Laboratory Medicine, University of Parma, via Gramsci, 14, I-43100 Parma, Italy

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Cesare Bordi
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Guido Rindi
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2003 Genetic alterations in poorly differentiated endocrine carcinomas of the gastrointestinal tract . Cancer 98 1273 – 1282 . Pizzi S Azzoni C Bottarelli L Campanini N D'Adda T Pasquali C Rossi G Rindi G Bordi C 2005 RASSF1

Article Type:
Research Article
DOI:
https://doi.org/10.1677/ERC-07-0230
Volume/Issue:
Volume 15: Issue 4
Free access
Nitya Raj Memorial Sloan Kettering Cancer Center, New York, New York, USA

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Youyun Zheng Memorial Sloan Kettering Cancer Center, New York, New York, USA

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Haley Hauser Memorial Sloan Kettering Cancer Center, New York, New York, USA

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Joanne Chou Memorial Sloan Kettering Cancer Center, New York, New York, USA

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Johnathan Rafailov Memorial Sloan Kettering Cancer Center, New York, New York, USA

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Jad Bou-Ayache Memorial Sloan Kettering Cancer Center, New York, New York, USA

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Peter Sawan Memorial Sloan Kettering Cancer Center, New York, New York, USA

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Jamie Chaft Memorial Sloan Kettering Cancer Center, New York, New York, USA

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Jennifer Chan Dana-Farber Cancer Institute, Boston, Massachusetts, USA

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Kimberly Perez Dana-Farber Cancer Institute, Boston, Massachusetts, USA

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Charles Rudin Memorial Sloan Kettering Cancer Center, New York, New York, USA

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Laura Tang Memorial Sloan Kettering Cancer Center, New York, New York, USA

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Diane Reidy-Lagunes Memorial Sloan Kettering Cancer Center, New York, New York, USA

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during treatment with ribociclib and everolimus. In correlative analyses, there was no association between genetic alterations in the tumor of patients experiencing disease stabilization vs progressive disease during treatment with this drug combination

Article Type:
Research Article
DOI:
https://doi.org/10.1530/ERC-20-0446
Volume/Issue:
Volume 28: Issue 4
Restricted access
Rushabh Gujarathi Section of Hematology and Oncology, Department of Medicine, University of Chicago, Chicago, Illinois, USA

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Sara Abou Azar Section of Endocrine Surgery, Department of Surgery, University of Chicago, Chicago, Illinois, USA

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Joseph Tobias Section of Endocrine Surgery, Department of Surgery, University of Chicago, Chicago, Illinois, USA

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Blase N Polite Section of Hematology and Oncology, Department of Medicine, University of Chicago, Chicago, Illinois, USA

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Namrata Setia Department of Pathology, University of Chicago, Chicago, Illinois, USA

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Nicholas Feinberg Department of Radiology, University of Chicago, Chicago, Illinois, USA

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Daniel E Appelbaum Department of Radiology, University of Chicago, Chicago, Illinois, USA

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Xavier M Keutgen Section of Endocrine Surgery, Department of Surgery, University of Chicago, Chicago, Illinois, USA

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Chih-Yi Liao Section of Hematology and Oncology, Department of Medicine, University of Chicago, Chicago, Illinois, USA

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chromatin binding of the p53 protein ( Gulve et al. 2022 ). In a clinical context, considering the potential interaction between these genetic alterations and the tumor genotype of TP53 alongside the MEN1 / DAXX / ATRX mutational status could offer

Article Type:
Research Article
DOI:
https://doi.org/10.1530/ERC-24-0065
Volume/Issue:
Volume 31: Issue 11
Restricted access
Peter M Sadow Department of Pathology, WRN219, Harvard Medical School, Massachusetts General Hospital, 55 Fruit Street, Boston, Massachusetts, 02114, USA
Department of Pathology, WRN219, Harvard Medical School, Massachusetts General Hospital, 55 Fruit Street, Boston, Massachusetts, 02114, USA

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Dora Dias-Santagata Department of Pathology, WRN219, Harvard Medical School, Massachusetts General Hospital, 55 Fruit Street, Boston, Massachusetts, 02114, USA

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Zongli Zheng Department of Pathology, WRN219, Harvard Medical School, Massachusetts General Hospital, 55 Fruit Street, Boston, Massachusetts, 02114, USA

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Derrick T Lin Department of Pathology, WRN219, Harvard Medical School, Massachusetts General Hospital, 55 Fruit Street, Boston, Massachusetts, 02114, USA

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Long Phi Le Department of Pathology, WRN219, Harvard Medical School, Massachusetts General Hospital, 55 Fruit Street, Boston, Massachusetts, 02114, USA

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Carmelo Nucera Department of Pathology, WRN219, Harvard Medical School, Massachusetts General Hospital, 55 Fruit Street, Boston, Massachusetts, 02114, USA

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known to be present in 27 of these patients while alive. In most patients, lung metastases are detected by chest X-ray ( Besic & Gazic 2013 ). Several genetic alterations are reported in the pathogenesis of ATC, including RAS , BRAF , TP53 , CTNNB1

Article Type:
Letter
DOI:
https://doi.org/10.1530/ERC-15-0198
Volume/Issue:
Volume 22: Issue 6
Free access
Kyle M Walsh
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Murim Choi Department of Epidemiology and Public Health, Department of Genetics, Department of Endocrine Oncology, Department of Medical Oncology, Department of Gastrointestinal Medical Oncology, Verto Institute, Yale University, 60 College Street, New Haven, Connecticut 06520, USA

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Kjell Oberg Department of Epidemiology and Public Health, Department of Genetics, Department of Endocrine Oncology, Department of Medical Oncology, Department of Gastrointestinal Medical Oncology, Verto Institute, Yale University, 60 College Street, New Haven, Connecticut 06520, USA

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Matthew H Kulke Department of Epidemiology and Public Health, Department of Genetics, Department of Endocrine Oncology, Department of Medical Oncology, Department of Gastrointestinal Medical Oncology, Verto Institute, Yale University, 60 College Street, New Haven, Connecticut 06520, USA

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James C Yao Department of Epidemiology and Public Health, Department of Genetics, Department of Endocrine Oncology, Department of Medical Oncology, Department of Gastrointestinal Medical Oncology, Verto Institute, Yale University, 60 College Street, New Haven, Connecticut 06520, USA

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Chengqing Wu
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Magdalena Jurkiewicz
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Ling-I Hsu
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Susanne M Hooshmand Department of Epidemiology and Public Health, Department of Genetics, Department of Endocrine Oncology, Department of Medical Oncology, Department of Gastrointestinal Medical Oncology, Verto Institute, Yale University, 60 College Street, New Haven, Connecticut 06520, USA

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Manal Hassan Department of Epidemiology and Public Health, Department of Genetics, Department of Endocrine Oncology, Department of Medical Oncology, Department of Gastrointestinal Medical Oncology, Verto Institute, Yale University, 60 College Street, New Haven, Connecticut 06520, USA

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Eva T Janson Department of Epidemiology and Public Health, Department of Genetics, Department of Endocrine Oncology, Department of Medical Oncology, Department of Gastrointestinal Medical Oncology, Verto Institute, Yale University, 60 College Street, New Haven, Connecticut 06520, USA

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Janet L Cunningham Department of Epidemiology and Public Health, Department of Genetics, Department of Endocrine Oncology, Department of Medical Oncology, Department of Gastrointestinal Medical Oncology, Verto Institute, Yale University, 60 College Street, New Haven, Connecticut 06520, USA

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Evan Vosburgh Department of Epidemiology and Public Health, Department of Genetics, Department of Endocrine Oncology, Department of Medical Oncology, Department of Gastrointestinal Medical Oncology, Verto Institute, Yale University, 60 College Street, New Haven, Connecticut 06520, USA

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Richard S Sackler Department of Epidemiology and Public Health, Department of Genetics, Department of Endocrine Oncology, Department of Medical Oncology, Department of Gastrointestinal Medical Oncology, Verto Institute, Yale University, 60 College Street, New Haven, Connecticut 06520, USA

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Richard P Lifton Department of Epidemiology and Public Health, Department of Genetics, Department of Endocrine Oncology, Department of Medical Oncology, Department of Gastrointestinal Medical Oncology, Verto Institute, Yale University, 60 College Street, New Haven, Connecticut 06520, USA

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Andrew T DeWan
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Josephine Hoh
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list of the most commonly reported chromosomal alterations was compiled, and a meta-analysis of the prevalence of this alteration in patients with ileal carcinoids was performed. As different genetic alterations may distinguish localized ileal carcinoid

Article Type:
Research Article
DOI:
https://doi.org/10.1677/ERC-10-0248
Volume/Issue:
Volume 18: Issue 1
Free access
Olga Karapanou Endocrine Department, 401 General Military Hospital of Athens, Athens, Greece

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George Simeakis Endocrine Department, 401 General Military Hospital of Athens, Athens, Greece
Department of Clinical Therapeutics, Alexandra Hospital Athens University School of Medicine, Endocrine Unit, Athens, Greece

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Barbara Vlassopoulou Endocrine Department, Evangelismos Athens General Hospital, Athens, Greece

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Maria Alevizaki Department of Clinical Therapeutics, Alexandra Hospital Athens University School of Medicine, Endocrine Unit, Athens, Greece

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Katerina Saltiki Department of Clinical Therapeutics, Alexandra Hospital Athens University School of Medicine, Endocrine Unit, Athens, Greece

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. 2020 ). Not only common genetic modifications but also epigenetic alterations may underlie the spectrum of biological behavior of these neoplasms ( Asa & Ezzat 2018 ). The main targets of molecular alterations that have been implicated in the

Article Type:
Review Article
DOI:
https://doi.org/10.1530/ERC-22-0006
Volume/Issue:
Volume 29: Issue 5
Free access
Soazig Le Pennec IRIBHM, WELBIO, CHU d'Angers, EA 3143, Service d'Anatomie et Cytologie Pathologiques, Hôpital Pitié-Salpêtrière, Institut Jules Bordet, Université libre de Bruxelles (ULB), Campus Erasme, 808 Route de Lennik, 1070 Brussels, Belgium

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Tomasz Konopka IRIBHM, WELBIO, CHU d'Angers, EA 3143, Service d'Anatomie et Cytologie Pathologiques, Hôpital Pitié-Salpêtrière, Institut Jules Bordet, Université libre de Bruxelles (ULB), Campus Erasme, 808 Route de Lennik, 1070 Brussels, Belgium

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David Gacquer IRIBHM, WELBIO, CHU d'Angers, EA 3143, Service d'Anatomie et Cytologie Pathologiques, Hôpital Pitié-Salpêtrière, Institut Jules Bordet, Université libre de Bruxelles (ULB), Campus Erasme, 808 Route de Lennik, 1070 Brussels, Belgium

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Danai Fimereli IRIBHM, WELBIO, CHU d'Angers, EA 3143, Service d'Anatomie et Cytologie Pathologiques, Hôpital Pitié-Salpêtrière, Institut Jules Bordet, Université libre de Bruxelles (ULB), Campus Erasme, 808 Route de Lennik, 1070 Brussels, Belgium

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Maxime Tarabichi IRIBHM, WELBIO, CHU d'Angers, EA 3143, Service d'Anatomie et Cytologie Pathologiques, Hôpital Pitié-Salpêtrière, Institut Jules Bordet, Université libre de Bruxelles (ULB), Campus Erasme, 808 Route de Lennik, 1070 Brussels, Belgium

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Gil Tomás IRIBHM, WELBIO, CHU d'Angers, EA 3143, Service d'Anatomie et Cytologie Pathologiques, Hôpital Pitié-Salpêtrière, Institut Jules Bordet, Université libre de Bruxelles (ULB), Campus Erasme, 808 Route de Lennik, 1070 Brussels, Belgium

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Frédérique Savagner IRIBHM, WELBIO, CHU d'Angers, EA 3143, Service d'Anatomie et Cytologie Pathologiques, Hôpital Pitié-Salpêtrière, Institut Jules Bordet, Université libre de Bruxelles (ULB), Campus Erasme, 808 Route de Lennik, 1070 Brussels, Belgium
IRIBHM, WELBIO, CHU d'Angers, EA 3143, Service d'Anatomie et Cytologie Pathologiques, Hôpital Pitié-Salpêtrière, Institut Jules Bordet, Université libre de Bruxelles (ULB), Campus Erasme, 808 Route de Lennik, 1070 Brussels, Belgium

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Myriam Decaussin-Petrucci IRIBHM, WELBIO, CHU d'Angers, EA 3143, Service d'Anatomie et Cytologie Pathologiques, Hôpital Pitié-Salpêtrière, Institut Jules Bordet, Université libre de Bruxelles (ULB), Campus Erasme, 808 Route de Lennik, 1070 Brussels, Belgium

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Christophe Trésallet IRIBHM, WELBIO, CHU d'Angers, EA 3143, Service d'Anatomie et Cytologie Pathologiques, Hôpital Pitié-Salpêtrière, Institut Jules Bordet, Université libre de Bruxelles (ULB), Campus Erasme, 808 Route de Lennik, 1070 Brussels, Belgium

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Guy Andry IRIBHM, WELBIO, CHU d'Angers, EA 3143, Service d'Anatomie et Cytologie Pathologiques, Hôpital Pitié-Salpêtrière, Institut Jules Bordet, Université libre de Bruxelles (ULB), Campus Erasme, 808 Route de Lennik, 1070 Brussels, Belgium

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Denis Larsimont IRIBHM, WELBIO, CHU d'Angers, EA 3143, Service d'Anatomie et Cytologie Pathologiques, Hôpital Pitié-Salpêtrière, Institut Jules Bordet, Université libre de Bruxelles (ULB), Campus Erasme, 808 Route de Lennik, 1070 Brussels, Belgium

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Vincent Detours IRIBHM, WELBIO, CHU d'Angers, EA 3143, Service d'Anatomie et Cytologie Pathologiques, Hôpital Pitié-Salpêtrière, Institut Jules Bordet, Université libre de Bruxelles (ULB), Campus Erasme, 808 Route de Lennik, 1070 Brussels, Belgium

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Carine Maenhaut IRIBHM, WELBIO, CHU d'Angers, EA 3143, Service d'Anatomie et Cytologie Pathologiques, Hôpital Pitié-Salpêtrière, Institut Jules Bordet, Université libre de Bruxelles (ULB), Campus Erasme, 808 Route de Lennik, 1070 Brussels, Belgium
IRIBHM, WELBIO, CHU d'Angers, EA 3143, Service d'Anatomie et Cytologie Pathologiques, Hôpital Pitié-Salpêtrière, Institut Jules Bordet, Université libre de Bruxelles (ULB), Campus Erasme, 808 Route de Lennik, 1070 Brussels, Belgium

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the basis of multiple genetic alterations, i.e. non-synonymous single-nucleotide variants (nsSNVs), gene fusions, alternative transcripts, and loss of heterozygosity (LOH). Materials and methods Case description A 71-year-old male was diagnosed with a

Article Type:
Research Article
DOI:
https://doi.org/10.1530/ERC-14-0351
Volume/Issue:
Volume 22: Issue 2
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