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Margarida M Moura Unidade de Investigação em Patobiologia Molecular (UIPM), Serviço de Endocrinologia, Clínica Universitária de Endocrinologia, Instituto Português de Oncologia de Lisboa Francisco Gentil E.P.E., Rua Prof. Lima Basto, 1099-023 Lisboa, Portugal

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Branca M Cavaco Unidade de Investigação em Patobiologia Molecular (UIPM), Serviço de Endocrinologia, Clínica Universitária de Endocrinologia, Instituto Português de Oncologia de Lisboa Francisco Gentil E.P.E., Rua Prof. Lima Basto, 1099-023 Lisboa, Portugal

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Valeriano Leite Unidade de Investigação em Patobiologia Molecular (UIPM), Serviço de Endocrinologia, Clínica Universitária de Endocrinologia, Instituto Português de Oncologia de Lisboa Francisco Gentil E.P.E., Rua Prof. Lima Basto, 1099-023 Lisboa, Portugal
Unidade de Investigação em Patobiologia Molecular (UIPM), Serviço de Endocrinologia, Clínica Universitária de Endocrinologia, Instituto Português de Oncologia de Lisboa Francisco Gentil E.P.E., Rua Prof. Lima Basto, 1099-023 Lisboa, Portugal
Unidade de Investigação em Patobiologia Molecular (UIPM), Serviço de Endocrinologia, Clínica Universitária de Endocrinologia, Instituto Português de Oncologia de Lisboa Francisco Gentil E.P.E., Rua Prof. Lima Basto, 1099-023 Lisboa, Portugal

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mutated (total mutated samples/total samples tested) for that particular tumor type. RAS mutations have also been detected in medullary thyroid carcinomas (MTCs), and this subject will be further discussed in section ‘ RAS mutations in MTC

Article Type:
Review Article
DOI:
https://doi.org/10.1530/ERC-15-0070
Volume/Issue:
Volume 22: Issue 5
Free access
Libero Santarpia Departments of Endocrine Neoplasia and Hormonal Disorders, Experimental Therapeutics , Urology, Department of Oncology, Department of Pathology, Verna and Marrs McLean Department of Biochemistry and Molecular Biology Baylor College of Medicine, Department of Oncology, Department of Gynecologic Oncology, Department of Endocrinology, Department of Pathology, Department of Internal Medicine, The University of Texas M.D. Anderson Cancer Center, Houston, Texas, USA

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George A Calin Departments of Endocrine Neoplasia and Hormonal Disorders, Experimental Therapeutics , Urology, Department of Oncology, Department of Pathology, Verna and Marrs McLean Department of Biochemistry and Molecular Biology Baylor College of Medicine, Department of Oncology, Department of Gynecologic Oncology, Department of Endocrinology, Department of Pathology, Department of Internal Medicine, The University of Texas M.D. Anderson Cancer Center, Houston, Texas, USA

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Liana Adam Departments of Endocrine Neoplasia and Hormonal Disorders, Experimental Therapeutics , Urology, Department of Oncology, Department of Pathology, Verna and Marrs McLean Department of Biochemistry and Molecular Biology Baylor College of Medicine, Department of Oncology, Department of Gynecologic Oncology, Department of Endocrinology, Department of Pathology, Department of Internal Medicine, The University of Texas M.D. Anderson Cancer Center, Houston, Texas, USA

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Lei Ye Departments of Endocrine Neoplasia and Hormonal Disorders, Experimental Therapeutics , Urology, Department of Oncology, Department of Pathology, Verna and Marrs McLean Department of Biochemistry and Molecular Biology Baylor College of Medicine, Department of Oncology, Department of Gynecologic Oncology, Department of Endocrinology, Department of Pathology, Department of Internal Medicine, The University of Texas M.D. Anderson Cancer Center, Houston, Texas, USA

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Alfredo Fusco Departments of Endocrine Neoplasia and Hormonal Disorders, Experimental Therapeutics , Urology, Department of Oncology, Department of Pathology, Verna and Marrs McLean Department of Biochemistry and Molecular Biology Baylor College of Medicine, Department of Oncology, Department of Gynecologic Oncology, Department of Endocrinology, Department of Pathology, Department of Internal Medicine, The University of Texas M.D. Anderson Cancer Center, Houston, Texas, USA

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Serena Giunti Departments of Endocrine Neoplasia and Hormonal Disorders, Experimental Therapeutics , Urology, Department of Oncology, Department of Pathology, Verna and Marrs McLean Department of Biochemistry and Molecular Biology Baylor College of Medicine, Department of Oncology, Department of Gynecologic Oncology, Department of Endocrinology, Department of Pathology, Department of Internal Medicine, The University of Texas M.D. Anderson Cancer Center, Houston, Texas, USA

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Christina Thaller Departments of Endocrine Neoplasia and Hormonal Disorders, Experimental Therapeutics , Urology, Department of Oncology, Department of Pathology, Verna and Marrs McLean Department of Biochemistry and Molecular Biology Baylor College of Medicine, Department of Oncology, Department of Gynecologic Oncology, Department of Endocrinology, Department of Pathology, Department of Internal Medicine, The University of Texas M.D. Anderson Cancer Center, Houston, Texas, USA

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Laura Paladini Departments of Endocrine Neoplasia and Hormonal Disorders, Experimental Therapeutics , Urology, Department of Oncology, Department of Pathology, Verna and Marrs McLean Department of Biochemistry and Molecular Biology Baylor College of Medicine, Department of Oncology, Department of Gynecologic Oncology, Department of Endocrinology, Department of Pathology, Department of Internal Medicine, The University of Texas M.D. Anderson Cancer Center, Houston, Texas, USA

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Xinna Zhang Departments of Endocrine Neoplasia and Hormonal Disorders, Experimental Therapeutics , Urology, Department of Oncology, Department of Pathology, Verna and Marrs McLean Department of Biochemistry and Molecular Biology Baylor College of Medicine, Department of Oncology, Department of Gynecologic Oncology, Department of Endocrinology, Department of Pathology, Department of Internal Medicine, The University of Texas M.D. Anderson Cancer Center, Houston, Texas, USA

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Camilo Jimenez Departments of Endocrine Neoplasia and Hormonal Disorders, Experimental Therapeutics , Urology, Department of Oncology, Department of Pathology, Verna and Marrs McLean Department of Biochemistry and Molecular Biology Baylor College of Medicine, Department of Oncology, Department of Gynecologic Oncology, Department of Endocrinology, Department of Pathology, Department of Internal Medicine, The University of Texas M.D. Anderson Cancer Center, Houston, Texas, USA

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Francesco Trimarchi Departments of Endocrine Neoplasia and Hormonal Disorders, Experimental Therapeutics , Urology, Department of Oncology, Department of Pathology, Verna and Marrs McLean Department of Biochemistry and Molecular Biology Baylor College of Medicine, Department of Oncology, Department of Gynecologic Oncology, Department of Endocrinology, Department of Pathology, Department of Internal Medicine, The University of Texas M.D. Anderson Cancer Center, Houston, Texas, USA

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Adel K El-Naggar Departments of Endocrine Neoplasia and Hormonal Disorders, Experimental Therapeutics , Urology, Department of Oncology, Department of Pathology, Verna and Marrs McLean Department of Biochemistry and Molecular Biology Baylor College of Medicine, Department of Oncology, Department of Gynecologic Oncology, Department of Endocrinology, Department of Pathology, Department of Internal Medicine, The University of Texas M.D. Anderson Cancer Center, Houston, Texas, USA

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Robert F Gagel Departments of Endocrine Neoplasia and Hormonal Disorders, Experimental Therapeutics , Urology, Department of Oncology, Department of Pathology, Verna and Marrs McLean Department of Biochemistry and Molecular Biology Baylor College of Medicine, Department of Oncology, Department of Gynecologic Oncology, Department of Endocrinology, Department of Pathology, Department of Internal Medicine, The University of Texas M.D. Anderson Cancer Center, Houston, Texas, USA
Departments of Endocrine Neoplasia and Hormonal Disorders, Experimental Therapeutics , Urology, Department of Oncology, Department of Pathology, Verna and Marrs McLean Department of Biochemistry and Molecular Biology Baylor College of Medicine, Department of Oncology, Department of Gynecologic Oncology, Department of Endocrinology, Department of Pathology, Department of Internal Medicine, The University of Texas M.D. Anderson Cancer Center, Houston, Texas, USA

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Introduction Medullary thyroid carcinoma (MTC) is a neuroendocrine tumour thought to originate from neural crest parafollicular C-cells. Approximately 25% of MTC cases occur in the context of autosomal dominant multiple endocrine neoplasia syndrome

Article Type:
Research Article
DOI:
https://doi.org/10.1530/ERC-13-0357
Volume/Issue:
Volume 20: Issue 6
Free access
Teresa Ramone Department of Clinical and Experimental Medicine, Unit of Endocrinology, University Hospital of Pisa, Pisa, Italy

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Cristina Romei Department of Clinical and Experimental Medicine, Unit of Endocrinology, University Hospital of Pisa, Pisa, Italy

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

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Roberta Casalini Department of Clinical and Experimental Medicine, Unit of Endocrinology, University Hospital of Pisa, Pisa, Italy

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Angelo Valetto Department of Laboratory Medicine, Section of Cytogenetics, University Hospital of Pisa, Pisa, Italy

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Veronica Bertini Department of Laboratory Medicine, Section of Cytogenetics, University Hospital of Pisa, Pisa, Italy

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Francesco Raimondi Laboratorio di Biologia Bio@SNS, Scuola Normale Superiore, Pisa, Italy

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Anthony Onoja Laboratorio di Biologia Bio@SNS, Scuola Normale Superiore, Pisa, Italy

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

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Antonio Matrone Department of Clinical and Experimental Medicine, Unit of Endocrinology, University Hospital of Pisa, Pisa, Italy

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Carla Gambale Department of Clinical and Experimental Medicine, Unit of Endocrinology, University Hospital of Pisa, Pisa, Italy

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Paolo Piaggi Department of Information Engineering, University of Pisa, Pisa, Italy

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Liborio Torregrossa Department of Surgical, Medical, Molecular Pathology and Critical Area, Unit of Pathology, University Hospital of Pisa, Pisa, Italy

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Clara Ugolini Department of Surgical, Medical, Molecular Pathology and Critical Area, Unit of Pathology, University Hospital of Pisa, Pisa, Italy

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

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from follicular cells, while medullary thyroid carcinoma (MTC) is derived from parafollicular C cells. SCNAs were identified in 27.2% of papillary thyroid carcinomas ( Cancer Genome Atlas Research Network et al. 2014 ), while in MTC, a variable

Article Type:
Research Article
DOI:
https://doi.org/10.1530/ERC-22-0251
Volume/Issue:
Volume 30: Issue 9
Restricted access
Marta Kaczmarek-Ryś Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland

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Katarzyna Ziemnicka Department of Endocrinology, Metabolism and Internal Diseases, Poznan University of Medical Sciences, Poznan, Poland

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Andrzej Pławski Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland
Department of General, Endocrinological Surgery and Gastroenterological Oncology, Poznan University of Medical Sciences, Poznań

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Bartłomiej Budny Department of Endocrinology, Metabolism and Internal Diseases, Poznan University of Medical Sciences, Poznan, Poland

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Michał Michalak Department of Computer Science and Statistics, Poznan University of Medical Sciences, Poznan, Poland

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Szymon Hryhorowicz Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland

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Justyna Hoppe-Gołębiewska Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland

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Paweł Boruń Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland

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Monika Gołąb Department of Endocrinology, Metabolism and Internal Diseases, Poznan University of Medical Sciences, Poznan, Poland

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Małgorzata Czetwertyńska Department of Nuclear Medicine and Endocrine Oncology, Maria Skłodowska-Curie Institute – Oncology Centre, Warsaw, Poland

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Maria Sromek Department of Immunology, Maria Sklodowska-Curie Institute – Oncology Centre, Warsaw, Poland

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Marlena Szalata Department of Biochemistry and Biotechnology, Poznan University of Life Sciences, Poznan, Poland

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Marek Ruchała Department of Endocrinology, Metabolism and Internal Diseases, Poznan University of Medical Sciences, Poznan, Poland

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Ryszard Słomski Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland
Department of Biochemistry and Biotechnology, Poznan University of Life Sciences, Poznan, Poland

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Introduction Medullary thyroid carcinoma (MTC) occurs sporadically (sMTC) or as an inherited cancer (hMTC). The hereditary form may be present as a component of the multiple endocrine neoplasia type 2 syndrome (MEN2) or as an isolated MTC

Article Type:
Research Article
DOI:
https://doi.org/10.1530/ERC-17-0452
Volume/Issue:
Volume 25: Issue 4
Free access
Zixia Tao Department of General Surgery, Thyroid and Parathyroid Center, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China

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Xianzhao Deng Department of General Surgery, Thyroid and Parathyroid Center, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China

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Bomin Guo Department of General Surgery, Thyroid and Parathyroid Center, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China

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Zheng Ding Department of General Surgery, Thyroid and Parathyroid Center, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China

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Youben Fan Department of General Surgery, Thyroid and Parathyroid Center, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China

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Introduction Medullary thyroid carcinoma (MTC) originates from parafollicular cells of the thyroid and is characterized by the secretion of calcitonin and carcinoembryonic antigen. Unlike differentiated thyroid carcinoma, endocrine suppressive

Article Type:
Research Article
DOI:
https://doi.org/10.1530/ERC-23-0319
Volume/Issue:
Volume 31: Issue 5
Open access
Rodrigo A Toledo Endocrine Genetics Unit (Laboratório de Investigação Médica/LIM-25) of Hospital das Clínicas, Nursing School, School of Public Health, Human Genome Research Center, Division of Genetics, Division of Endocrinology, Brazilian National Laboratory of Biosciences, Centro Integral Oncológico Clara Campal, Department of Genetics, Endocrinology Division, Laboratory of Epidemiology and Population Sciences, University of São Paulo School of Medicine, São Paulo, São Paulo 05403-010, Brazil

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Roxanne Hatakana Endocrine Genetics Unit (Laboratório de Investigação Médica/LIM-25) of Hospital das Clínicas, Nursing School, School of Public Health, Human Genome Research Center, Division of Genetics, Division of Endocrinology, Brazilian National Laboratory of Biosciences, Centro Integral Oncológico Clara Campal, Department of Genetics, Endocrinology Division, Laboratory of Epidemiology and Population Sciences, University of São Paulo School of Medicine, São Paulo, São Paulo 05403-010, Brazil

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Delmar M Lourenço Jr Endocrine Genetics Unit (Laboratório de Investigação Médica/LIM-25) of Hospital das Clínicas, Nursing School, School of Public Health, Human Genome Research Center, Division of Genetics, Division of Endocrinology, Brazilian National Laboratory of Biosciences, Centro Integral Oncológico Clara Campal, Department of Genetics, Endocrinology Division, Laboratory of Epidemiology and Population Sciences, University of São Paulo School of Medicine, São Paulo, São Paulo 05403-010, Brazil

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Susan C Lindsey Endocrine Genetics Unit (Laboratório de Investigação Médica/LIM-25) of Hospital das Clínicas, Nursing School, School of Public Health, Human Genome Research Center, Division of Genetics, Division of Endocrinology, Brazilian National Laboratory of Biosciences, Centro Integral Oncológico Clara Campal, Department of Genetics, Endocrinology Division, Laboratory of Epidemiology and Population Sciences, University of São Paulo School of Medicine, São Paulo, São Paulo 05403-010, Brazil

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Cleber P Camacho Endocrine Genetics Unit (Laboratório de Investigação Médica/LIM-25) of Hospital das Clínicas, Nursing School, School of Public Health, Human Genome Research Center, Division of Genetics, Division of Endocrinology, Brazilian National Laboratory of Biosciences, Centro Integral Oncológico Clara Campal, Department of Genetics, Endocrinology Division, Laboratory of Epidemiology and Population Sciences, University of São Paulo School of Medicine, São Paulo, São Paulo 05403-010, Brazil

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Marcio Almeida Endocrine Genetics Unit (Laboratório de Investigação Médica/LIM-25) of Hospital das Clínicas, Nursing School, School of Public Health, Human Genome Research Center, Division of Genetics, Division of Endocrinology, Brazilian National Laboratory of Biosciences, Centro Integral Oncológico Clara Campal, Department of Genetics, Endocrinology Division, Laboratory of Epidemiology and Population Sciences, University of São Paulo School of Medicine, São Paulo, São Paulo 05403-010, Brazil

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José V Lima Jr Endocrine Genetics Unit (Laboratório de Investigação Médica/LIM-25) of Hospital das Clínicas, Nursing School, School of Public Health, Human Genome Research Center, Division of Genetics, Division of Endocrinology, Brazilian National Laboratory of Biosciences, Centro Integral Oncológico Clara Campal, Department of Genetics, Endocrinology Division, Laboratory of Epidemiology and Population Sciences, University of São Paulo School of Medicine, São Paulo, São Paulo 05403-010, Brazil

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Tomoko Sekiya Endocrine Genetics Unit (Laboratório de Investigação Médica/LIM-25) of Hospital das Clínicas, Nursing School, School of Public Health, Human Genome Research Center, Division of Genetics, Division of Endocrinology, Brazilian National Laboratory of Biosciences, Centro Integral Oncológico Clara Campal, Department of Genetics, Endocrinology Division, Laboratory of Epidemiology and Population Sciences, University of São Paulo School of Medicine, São Paulo, São Paulo 05403-010, Brazil

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Elena Garralda Endocrine Genetics Unit (Laboratório de Investigação Médica/LIM-25) of Hospital das Clínicas, Nursing School, School of Public Health, Human Genome Research Center, Division of Genetics, Division of Endocrinology, Brazilian National Laboratory of Biosciences, Centro Integral Oncológico Clara Campal, Department of Genetics, Endocrinology Division, Laboratory of Epidemiology and Population Sciences, University of São Paulo School of Medicine, São Paulo, São Paulo 05403-010, Brazil

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Michel S Naslavsky Endocrine Genetics Unit (Laboratório de Investigação Médica/LIM-25) of Hospital das Clínicas, Nursing School, School of Public Health, Human Genome Research Center, Division of Genetics, Division of Endocrinology, Brazilian National Laboratory of Biosciences, Centro Integral Oncológico Clara Campal, Department of Genetics, Endocrinology Division, Laboratory of Epidemiology and Population Sciences, University of São Paulo School of Medicine, São Paulo, São Paulo 05403-010, Brazil

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Guilherme L Yamamoto Endocrine Genetics Unit (Laboratório de Investigação Médica/LIM-25) of Hospital das Clínicas, Nursing School, School of Public Health, Human Genome Research Center, Division of Genetics, Division of Endocrinology, Brazilian National Laboratory of Biosciences, Centro Integral Oncológico Clara Campal, Department of Genetics, Endocrinology Division, Laboratory of Epidemiology and Population Sciences, University of São Paulo School of Medicine, São Paulo, São Paulo 05403-010, Brazil

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Monize Lazar Endocrine Genetics Unit (Laboratório de Investigação Médica/LIM-25) of Hospital das Clínicas, Nursing School, School of Public Health, Human Genome Research Center, Division of Genetics, Division of Endocrinology, Brazilian National Laboratory of Biosciences, Centro Integral Oncológico Clara Campal, Department of Genetics, Endocrinology Division, Laboratory of Epidemiology and Population Sciences, University of São Paulo School of Medicine, São Paulo, São Paulo 05403-010, Brazil

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Osorio Meirelles Endocrine Genetics Unit (Laboratório de Investigação Médica/LIM-25) of Hospital das Clínicas, Nursing School, School of Public Health, Human Genome Research Center, Division of Genetics, Division of Endocrinology, Brazilian National Laboratory of Biosciences, Centro Integral Oncológico Clara Campal, Department of Genetics, Endocrinology Division, Laboratory of Epidemiology and Population Sciences, University of São Paulo School of Medicine, São Paulo, São Paulo 05403-010, Brazil

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Tiago J P Sobreira Endocrine Genetics Unit (Laboratório de Investigação Médica/LIM-25) of Hospital das Clínicas, Nursing School, School of Public Health, Human Genome Research Center, Division of Genetics, Division of Endocrinology, Brazilian National Laboratory of Biosciences, Centro Integral Oncológico Clara Campal, Department of Genetics, Endocrinology Division, Laboratory of Epidemiology and Population Sciences, University of São Paulo School of Medicine, São Paulo, São Paulo 05403-010, Brazil

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Maria Lucia Lebrao Endocrine Genetics Unit (Laboratório de Investigação Médica/LIM-25) of Hospital das Clínicas, Nursing School, School of Public Health, Human Genome Research Center, Division of Genetics, Division of Endocrinology, Brazilian National Laboratory of Biosciences, Centro Integral Oncológico Clara Campal, Department of Genetics, Endocrinology Division, Laboratory of Epidemiology and Population Sciences, University of São Paulo School of Medicine, São Paulo, São Paulo 05403-010, Brazil

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Yeda A O Duarte Endocrine Genetics Unit (Laboratório de Investigação Médica/LIM-25) of Hospital das Clínicas, Nursing School, School of Public Health, Human Genome Research Center, Division of Genetics, Division of Endocrinology, Brazilian National Laboratory of Biosciences, Centro Integral Oncológico Clara Campal, Department of Genetics, Endocrinology Division, Laboratory of Epidemiology and Population Sciences, University of São Paulo School of Medicine, São Paulo, São Paulo 05403-010, Brazil

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John Blangero Endocrine Genetics Unit (Laboratório de Investigação Médica/LIM-25) of Hospital das Clínicas, Nursing School, School of Public Health, Human Genome Research Center, Division of Genetics, Division of Endocrinology, Brazilian National Laboratory of Biosciences, Centro Integral Oncológico Clara Campal, Department of Genetics, Endocrinology Division, Laboratory of Epidemiology and Population Sciences, University of São Paulo School of Medicine, São Paulo, São Paulo 05403-010, Brazil

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Mayana Zatz Endocrine Genetics Unit (Laboratório de Investigação Médica/LIM-25) of Hospital das Clínicas, Nursing School, School of Public Health, Human Genome Research Center, Division of Genetics, Division of Endocrinology, Brazilian National Laboratory of Biosciences, Centro Integral Oncológico Clara Campal, Department of Genetics, Endocrinology Division, Laboratory of Epidemiology and Population Sciences, University of São Paulo School of Medicine, São Paulo, São Paulo 05403-010, Brazil

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Janete M Cerutti Endocrine Genetics Unit (Laboratório de Investigação Médica/LIM-25) of Hospital das Clínicas, Nursing School, School of Public Health, Human Genome Research Center, Division of Genetics, Division of Endocrinology, Brazilian National Laboratory of Biosciences, Centro Integral Oncológico Clara Campal, Department of Genetics, Endocrinology Division, Laboratory of Epidemiology and Population Sciences, University of São Paulo School of Medicine, São Paulo, São Paulo 05403-010, Brazil

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Rui M B Maciel Endocrine Genetics Unit (Laboratório de Investigação Médica/LIM-25) of Hospital das Clínicas, Nursing School, School of Public Health, Human Genome Research Center, Division of Genetics, Division of Endocrinology, Brazilian National Laboratory of Biosciences, Centro Integral Oncológico Clara Campal, Department of Genetics, Endocrinology Division, Laboratory of Epidemiology and Population Sciences, University of São Paulo School of Medicine, São Paulo, São Paulo 05403-010, Brazil

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Sergio P A Toledo Endocrine Genetics Unit (Laboratório de Investigação Médica/LIM-25) of Hospital das Clínicas, Nursing School, School of Public Health, Human Genome Research Center, Division of Genetics, Division of Endocrinology, Brazilian National Laboratory of Biosciences, Centro Integral Oncológico Clara Campal, Department of Genetics, Endocrinology Division, Laboratory of Epidemiology and Population Sciences, University of São Paulo School of Medicine, São Paulo, São Paulo 05403-010, Brazil
Endocrine Genetics Unit (Laboratório de Investigação Médica/LIM-25) of Hospital das Clínicas, Nursing School, School of Public Health, Human Genome Research Center, Division of Genetics, Division of Endocrinology, Brazilian National Laboratory of Biosciences, Centro Integral Oncológico Clara Campal, Department of Genetics, Endocrinology Division, Laboratory of Epidemiology and Population Sciences, University of São Paulo School of Medicine, São Paulo, São Paulo 05403-010, Brazil

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Introduction MEN2 (MIM #164761) is a dominantly inherited multiglandular tumour syndrome that presents with a high penetrance of medullary thyroid carcinoma (MTC; observed in virtually 100% of cases), phaeochromocytoma (50%) and parathyroid adenoma

Article Type:
Research Article
DOI:
https://doi.org/10.1530/ERC-14-0491
Volume/Issue:
Volume 22: Issue 1
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Cristina Rodríguez-Antona Hereditary Endocrine Cancer Group, ISCIII Center for Biomedical Research on Rare Diseases (CIBERER), Pathology Department, Histopathology Core Unit, Endocrinology Division, Endocrinology Service, Human Cancer Genetics Programme, Spanish National Cancer Center (CNIO), Melchor Fernández Almagro 3, 28029 Madrid, Spain
Hereditary Endocrine Cancer Group, ISCIII Center for Biomedical Research on Rare Diseases (CIBERER), Pathology Department, Histopathology Core Unit, Endocrinology Division, Endocrinology Service, Human Cancer Genetics Programme, Spanish National Cancer Center (CNIO), Melchor Fernández Almagro 3, 28029 Madrid, Spain

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Iván Muñoz-Repeto Hereditary Endocrine Cancer Group, ISCIII Center for Biomedical Research on Rare Diseases (CIBERER), Pathology Department, Histopathology Core Unit, Endocrinology Division, Endocrinology Service, Human Cancer Genetics Programme, Spanish National Cancer Center (CNIO), Melchor Fernández Almagro 3, 28029 Madrid, Spain

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Lucia Inglada-Pérez Hereditary Endocrine Cancer Group, ISCIII Center for Biomedical Research on Rare Diseases (CIBERER), Pathology Department, Histopathology Core Unit, Endocrinology Division, Endocrinology Service, Human Cancer Genetics Programme, Spanish National Cancer Center (CNIO), Melchor Fernández Almagro 3, 28029 Madrid, Spain
Hereditary Endocrine Cancer Group, ISCIII Center for Biomedical Research on Rare Diseases (CIBERER), Pathology Department, Histopathology Core Unit, Endocrinology Division, Endocrinology Service, Human Cancer Genetics Programme, Spanish National Cancer Center (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), Pathology Department, Histopathology Core Unit, Endocrinology Division, Endocrinology Service, Human Cancer Genetics Programme, Spanish National Cancer Center (CNIO), Melchor Fernández Almagro 3, 28029 Madrid, Spain

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Veronika Mancikova Hereditary Endocrine Cancer Group, ISCIII Center for Biomedical Research on Rare Diseases (CIBERER), Pathology Department, Histopathology Core Unit, Endocrinology Division, Endocrinology Service, Human Cancer Genetics Programme, Spanish National Cancer Center (CNIO), Melchor Fernández Almagro 3, 28029 Madrid, Spain

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Marta Cañamero Hereditary Endocrine Cancer Group, ISCIII Center for Biomedical Research on Rare Diseases (CIBERER), Pathology Department, Histopathology Core Unit, Endocrinology Division, Endocrinology Service, Human Cancer Genetics Programme, Spanish National Cancer Center (CNIO), Melchor Fernández Almagro 3, 28029 Madrid, Spain

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Agnieszka Maliszewska Hereditary Endocrine Cancer Group, ISCIII Center for Biomedical Research on Rare Diseases (CIBERER), Pathology Department, Histopathology Core Unit, Endocrinology Division, Endocrinology Service, Human Cancer Genetics Programme, Spanish National Cancer Center (CNIO), Melchor Fernández Almagro 3, 28029 Madrid, Spain

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Álvaro Gómez Hereditary Endocrine Cancer Group, ISCIII Center for Biomedical Research on Rare Diseases (CIBERER), Pathology Department, Histopathology Core Unit, Endocrinology Division, Endocrinology Service, Human Cancer Genetics Programme, Spanish National Cancer Center (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), Pathology Department, Histopathology Core Unit, Endocrinology Division, Endocrinology Service, Human Cancer Genetics Programme, Spanish National Cancer Center (CNIO), Melchor Fernández Almagro 3, 28029 Madrid, Spain

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Luis J Leandro-García Hereditary Endocrine Cancer Group, ISCIII Center for Biomedical Research on Rare Diseases (CIBERER), Pathology Department, Histopathology Core Unit, Endocrinology Division, Endocrinology Service, Human Cancer Genetics Programme, Spanish National Cancer Center (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), Pathology Department, Histopathology Core Unit, Endocrinology Division, Endocrinology Service, Human Cancer Genetics Programme, Spanish National Cancer Center (CNIO), Melchor Fernández Almagro 3, 28029 Madrid, Spain

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Lara Sanchez Hereditary Endocrine Cancer Group, ISCIII Center for Biomedical Research on Rare Diseases (CIBERER), Pathology Department, Histopathology Core Unit, Endocrinology Division, Endocrinology Service, Human Cancer Genetics Programme, Spanish National Cancer Center (CNIO), Melchor Fernández Almagro 3, 28029 Madrid, Spain

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Cristina Álvarez-Escolá Hereditary Endocrine Cancer Group, ISCIII Center for Biomedical Research on Rare Diseases (CIBERER), Pathology Department, Histopathology Core Unit, Endocrinology Division, Endocrinology Service, Human Cancer Genetics Programme, Spanish National Cancer Center (CNIO), Melchor Fernández Almagro 3, 28029 Madrid, Spain

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Javier Aller Hereditary Endocrine Cancer Group, ISCIII Center for Biomedical Research on Rare Diseases (CIBERER), Pathology Department, Histopathology Core Unit, Endocrinology Division, Endocrinology Service, Human Cancer Genetics Programme, Spanish National Cancer Center (CNIO), Melchor Fernández Almagro 3, 28029 Madrid, Spain

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Alberto Cascón Hereditary Endocrine Cancer Group, ISCIII Center for Biomedical Research on Rare Diseases (CIBERER), Pathology Department, Histopathology Core Unit, Endocrinology Division, Endocrinology Service, Human Cancer Genetics Programme, Spanish National Cancer Center (CNIO), Melchor Fernández Almagro 3, 28029 Madrid, Spain
Hereditary Endocrine Cancer Group, ISCIII Center for Biomedical Research on Rare Diseases (CIBERER), Pathology Department, Histopathology Core Unit, Endocrinology Division, Endocrinology Service, Human Cancer Genetics Programme, Spanish National Cancer Center (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), Pathology Department, Histopathology Core Unit, Endocrinology Division, Endocrinology Service, Human Cancer Genetics Programme, Spanish National Cancer Center (CNIO), Melchor Fernández Almagro 3, 28029 Madrid, Spain
Hereditary Endocrine Cancer Group, ISCIII Center for Biomedical Research on Rare Diseases (CIBERER), Pathology Department, Histopathology Core Unit, Endocrinology Division, Endocrinology Service, Human Cancer Genetics Programme, Spanish National Cancer Center (CNIO), Melchor Fernández Almagro 3, 28029 Madrid, Spain

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Introduction Medullary thyroid carcinoma (MTC) arises from the parafollicular cells of the thyroid gland. Sporadic MTC accounts for 75% of the cases, and the remaining 25% is inherited in nature as part of multiple endocrine neoplasia type 2

Article Type:
Research Article
DOI:
https://doi.org/10.1530/ERC-12-0316
Volume/Issue:
Volume 20: Issue 4
Free access
Pierpaolo Trimboli Department of Nuclear Medicine and Thyroid Centre, Section of Endocrinology and Diabetology, Nuclear Medicine, Endocrine Unit, Oncology Institute of Southern Switzerland, Bellinzona, 6500, Switzerland
Department of Nuclear Medicine and Thyroid Centre, Section of Endocrinology and Diabetology, Nuclear Medicine, Endocrine Unit, Oncology Institute of Southern Switzerland, Bellinzona, 6500, Switzerland

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Ettore Seregni Department of Nuclear Medicine and Thyroid Centre, Section of Endocrinology and Diabetology, Nuclear Medicine, Endocrine Unit, Oncology Institute of Southern Switzerland, Bellinzona, 6500, Switzerland

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Giorgio Treglia Department of Nuclear Medicine and Thyroid Centre, Section of Endocrinology and Diabetology, Nuclear Medicine, Endocrine Unit, Oncology Institute of Southern Switzerland, Bellinzona, 6500, Switzerland

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Maria Alevizaki Department of Nuclear Medicine and Thyroid Centre, Section of Endocrinology and Diabetology, Nuclear Medicine, Endocrine Unit, Oncology Institute of Southern Switzerland, Bellinzona, 6500, Switzerland

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Luca Giovanella Department of Nuclear Medicine and Thyroid Centre, Section of Endocrinology and Diabetology, Nuclear Medicine, Endocrine Unit, Oncology Institute of Southern Switzerland, Bellinzona, 6500, Switzerland

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Introduction Medullary thyroid carcinoma (MTC) is a malignancy that originates from thyroid parafollicular C cells and accounts for about 5% of thyroid cancers ( Kloos et al . 2009 ). In the majority of cases (i.e., four out of every five), this

Article Type:
Review Article
DOI:
https://doi.org/10.1530/ERC-15-0156
Volume/Issue:
Volume 22: Issue 3
Free access
Lucieli Ceolin Thyroid Unit, Endocrine Division, Hospital de Clínicas de Porto Alegre, Universidade Federal do Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brasil

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Marta Amaro da Silveira Duval Thyroid Unit, Endocrine Division, Hospital de Clínicas de Porto Alegre, Universidade Federal do Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brasil

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Antônio Felippe Benini Thyroid Unit, Endocrine Division, Hospital de Clínicas de Porto Alegre, Universidade Federal do Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brasil

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Carla Vaz Ferreira Thyroid Unit, Endocrine Division, Hospital de Clínicas de Porto Alegre, Universidade Federal do Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brasil

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Ana Luiza Maia Thyroid Unit, Endocrine Division, Hospital de Clínicas de Porto Alegre, Universidade Federal do Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brasil

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Introduction Medullary thyroid carcinoma (MTC) is a malignant tumor originating in parafollicular or C cells of the thyroid. The main secretory product of MTC is calcitonin, a specific and highly sensitive biomarker that is produced by normal

Article Type:
Review Article
DOI:
https://doi.org/10.1530/ERC-18-0574
Volume/Issue:
Volume 26: Issue 9
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Anna Angelousi Unit of Endocrinology, First Department of Internal Medicine, Laiko Hospital, National and Kapodistrian University of Athens, Athens, Greece

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Aimee R Hayes Neuroendocrine Tumour Unit, ENETS Centre of Excellence, Royal Free Hospital, London, UK

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Eleftherios Chatzellis Endocrinology Diabetes and Metabolism Department, 251 Hellenic Air Force and VA General Hospital, Athens, Greece

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Gregory A Kaltsas First Department of Propaedeutic Internal Medicine, Laiko Hospital, National & Kapodistrian University of Athens, Athens, Greece

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Ashley B Grossman Neuroendocrine Tumour Unit, ENETS Centre of Excellence, Royal Free Hospital, London, UK
Green Templeton College, University of Oxford, Oxford, UK
Centre for Endocrinology, Barts and the London School of Medicine, London, UK

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Introduction Medullary thyroid carcinoma (MTC) is a malignant neuroendocrine tumour originating from the parafollicular or C-cells of the thyroid, capable of secreting calcitonin and carcinoembryonic antigen (CEA) ( Ceolin et al. 2019 ). It

Article Type:
Review Article
DOI:
https://doi.org/10.1530/ERC-21-0368
Volume/Issue:
Volume 29: Issue 7
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