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Yong Lin
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Xiaofei Jiang
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Ye Shen Department of Laboratory Medicine, Institute of Endocrinology and Diabetologia, Division of Endocrinology and Metabolism, Huashan Hospital, Shanghai Medical College, Fudan University, 12 Central Urumqi Road, Shanghai 200040, People's Republic of China

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Min Li
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Huili Ma
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Mingzhao Xing Department of Laboratory Medicine, Institute of Endocrinology and Diabetologia, Division of Endocrinology and Metabolism, Huashan Hospital, Shanghai Medical College, Fudan University, 12 Central Urumqi Road, Shanghai 200040, People's Republic of China

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Yuan Lu
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2004 ). However, genetic alterations, which are the driving force for human tumorigenesis and pathogenesis, have in general been unknown in pituitary tumors. Given the frequent mutations and amplifications of the PIK3CA gene in many human tumors and

Article Type:
Research Article
DOI:
https://doi.org/10.1677/ERC-08-0167
Volume/Issue:
Volume 16: Issue 1
Free access
Luqman Sulaiman Medical Genetics Unit, Center for Molecular Medicine, Endocrine Surgery Unit, Department of Oncology-Pathology, Department of Molecular Medicine and Surgery, Karolinska Institutet, Karolinska University Hospital CMM L8:01, SE-171 76 Stockholm, Sweden
Medical Genetics Unit, Center for Molecular Medicine, Endocrine Surgery Unit, Department of Oncology-Pathology, Department of Molecular Medicine and Surgery, Karolinska Institutet, Karolinska University Hospital CMM L8:01, SE-171 76 Stockholm, Sweden

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Inga-Lena Nilsson Medical Genetics Unit, Center for Molecular Medicine, Endocrine Surgery Unit, Department of Oncology-Pathology, Department of Molecular Medicine and Surgery, Karolinska Institutet, Karolinska University Hospital CMM L8:01, SE-171 76 Stockholm, Sweden

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C Christofer Juhlin Medical Genetics Unit, Center for Molecular Medicine, Endocrine Surgery Unit, Department of Oncology-Pathology, Department of Molecular Medicine and Surgery, Karolinska Institutet, Karolinska University Hospital CMM L8:01, SE-171 76 Stockholm, Sweden
Medical Genetics Unit, Center for Molecular Medicine, Endocrine Surgery Unit, Department of Oncology-Pathology, Department of Molecular Medicine and Surgery, Karolinska Institutet, Karolinska University Hospital CMM L8:01, SE-171 76 Stockholm, Sweden
Medical Genetics Unit, Center for Molecular Medicine, Endocrine Surgery Unit, Department of Oncology-Pathology, Department of Molecular Medicine and Surgery, Karolinska Institutet, Karolinska University Hospital CMM L8:01, SE-171 76 Stockholm, Sweden

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Felix Haglund Medical Genetics Unit, Center for Molecular Medicine, Endocrine Surgery Unit, Department of Oncology-Pathology, Department of Molecular Medicine and Surgery, Karolinska Institutet, Karolinska University Hospital CMM L8:01, SE-171 76 Stockholm, Sweden
Medical Genetics Unit, Center for Molecular Medicine, Endocrine Surgery Unit, Department of Oncology-Pathology, Department of Molecular Medicine and Surgery, Karolinska Institutet, Karolinska University Hospital CMM L8:01, SE-171 76 Stockholm, Sweden

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Anders Höög Medical Genetics Unit, Center for Molecular Medicine, Endocrine Surgery Unit, Department of Oncology-Pathology, Department of Molecular Medicine and Surgery, Karolinska Institutet, Karolinska University Hospital CMM L8:01, SE-171 76 Stockholm, Sweden

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Catharina Larsson Medical Genetics Unit, Center for Molecular Medicine, Endocrine Surgery Unit, Department of Oncology-Pathology, Department of Molecular Medicine and Surgery, Karolinska Institutet, Karolinska University Hospital CMM L8:01, SE-171 76 Stockholm, Sweden
Medical Genetics Unit, Center for Molecular Medicine, Endocrine Surgery Unit, Department of Oncology-Pathology, Department of Molecular Medicine and Surgery, Karolinska Institutet, Karolinska University Hospital CMM L8:01, SE-171 76 Stockholm, Sweden

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Jamileh Hashemi Medical Genetics Unit, Center for Molecular Medicine, Endocrine Surgery Unit, Department of Oncology-Pathology, Department of Molecular Medicine and Surgery, Karolinska Institutet, Karolinska University Hospital CMM L8:01, SE-171 76 Stockholm, Sweden
Medical Genetics Unit, Center for Molecular Medicine, Endocrine Surgery Unit, Department of Oncology-Pathology, Department of Molecular Medicine and Surgery, Karolinska Institutet, Karolinska University Hospital CMM L8:01, SE-171 76 Stockholm, Sweden

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phenotypes may be attributed to distinct genetic abnormalities. To test our hypothesis, we characterized the mutation status of the MEN1 and HRPT2 genes and applied high-resolution array CGH to assess copy number alterations (CNAs) in a panel of such

Article Type:
Research Article
DOI:
https://doi.org/10.1530/ERC-11-0140
Volume/Issue:
Volume 19: Issue 3
Open access
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Hans K Ghayee
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Bas Havekes Division of Endocrinology, Reproductive Biology and Medicine Program, Department of Endocrinology and Metabolism, Institute of Clinical Chemistry & Laboratory Medicine and Department of Medicine, Department of Medicine, Medical Oncology Branch, Department of Internal Medicine, Southwesterm Medical Center, University of Texas, 5323 Harry Hines Boulevard, Suite Y-5.318, Dallas, Texas 75390-8857, USA

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Eleonora P M Corssmit Division of Endocrinology, Reproductive Biology and Medicine Program, Department of Endocrinology and Metabolism, Institute of Clinical Chemistry & Laboratory Medicine and Department of Medicine, Department of Medicine, Medical Oncology Branch, Department of Internal Medicine, Southwesterm Medical Center, University of Texas, 5323 Harry Hines Boulevard, Suite Y-5.318, Dallas, Texas 75390-8857, USA

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Graeme Eisenhofer Division of Endocrinology, Reproductive Biology and Medicine Program, Department of Endocrinology and Metabolism, Institute of Clinical Chemistry & Laboratory Medicine and Department of Medicine, Department of Medicine, Medical Oncology Branch, Department of Internal Medicine, Southwesterm Medical Center, University of Texas, 5323 Harry Hines Boulevard, Suite Y-5.318, Dallas, Texas 75390-8857, USA

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Stephen R Hammes
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Zahid Ahmad
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Alexander Tessnow
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Ivica Lazúrová Division of Endocrinology, Reproductive Biology and Medicine Program, Department of Endocrinology and Metabolism, Institute of Clinical Chemistry & Laboratory Medicine and Department of Medicine, Department of Medicine, Medical Oncology Branch, Department of Internal Medicine, Southwesterm Medical Center, University of Texas, 5323 Harry Hines Boulevard, Suite Y-5.318, Dallas, Texas 75390-8857, USA

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Karen T Adams Division of Endocrinology, Reproductive Biology and Medicine Program, Department of Endocrinology and Metabolism, Institute of Clinical Chemistry & Laboratory Medicine and Department of Medicine, Department of Medicine, Medical Oncology Branch, Department of Internal Medicine, Southwesterm Medical Center, University of Texas, 5323 Harry Hines Boulevard, Suite Y-5.318, Dallas, Texas 75390-8857, USA

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Antonio T Fojo Division of Endocrinology, Reproductive Biology and Medicine Program, Department of Endocrinology and Metabolism, Institute of Clinical Chemistry & Laboratory Medicine and Department of Medicine, Department of Medicine, Medical Oncology Branch, Department of Internal Medicine, Southwesterm Medical Center, University of Texas, 5323 Harry Hines Boulevard, Suite Y-5.318, Dallas, Texas 75390-8857, USA

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Karel Pacak Division of Endocrinology, Reproductive Biology and Medicine Program, Department of Endocrinology and Metabolism, Institute of Clinical Chemistry & Laboratory Medicine and Department of Medicine, Department of Medicine, Medical Oncology Branch, Department of Internal Medicine, Southwesterm Medical Center, University of Texas, 5323 Harry Hines Boulevard, Suite Y-5.318, Dallas, Texas 75390-8857, USA

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Richard J Auchus
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the mediastinum ( Pacak et al . 2006 ), and their associated genetic alterations, biochemical features, and clinical behavior have not been systematically characterized. The major new finding in this report is that all ten patients with mediastinal

Article Type:
Research Article
DOI:
https://doi.org/10.1677/ERC-08-0214
Volume/Issue:
Volume 16: Issue 1
Free access
Maria Isabel C Vieira Cordioli Genetic Bases of Thyroid Tumors Laboratory, Division of Endocrinology, Division of Genetics, Department of Morphology and Genetics and Division of Endocrinology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo, Pedro de Toledo 669, 11 andar, 04039‐032, São Paulo, SP, Brazil

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Lais Moraes Genetic Bases of Thyroid Tumors Laboratory, Division of Endocrinology, Division of Genetics, Department of Morphology and Genetics and Division of Endocrinology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo, Pedro de Toledo 669, 11 andar, 04039‐032, São Paulo, SP, Brazil

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Adriano Namo Cury Genetic Bases of Thyroid Tumors Laboratory, Division of Endocrinology, Division of Genetics, Department of Morphology and Genetics and Division of Endocrinology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo, Pedro de Toledo 669, 11 andar, 04039‐032, São Paulo, SP, Brazil

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Janete M Cerutti Genetic Bases of Thyroid Tumors Laboratory, Division of Endocrinology, Division of Genetics, Department of Morphology and Genetics and Division of Endocrinology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo, Pedro de Toledo 669, 11 andar, 04039‐032, São Paulo, SP, Brazil

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) that reduced the so-called ‘dark matter’ of the PTC. The large collection of genetic alterations, combined with a comprehensive transcriptomic and proteomic analysis, revealed fundamental biological differences between PTCs. This increased knowledge

Article Type:
Review Article
DOI:
https://doi.org/10.1530/ERC-15-0381
Volume/Issue:
Volume 22: Issue 6
Free access
A M Schmitt
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S Schmid
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T Rudolph
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M Anlauf Department of Pathology, Institute of Pathology, Department of Gastroenterology, Department of Pathology, Department of Pathology, Institute of Pathology, Institute of Surgical Pathology, Zurich, Switzerland

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C Prinz Department of Pathology, Institute of Pathology, Department of Gastroenterology, Department of Pathology, Department of Pathology, Institute of Pathology, Institute of Surgical Pathology, Zurich, Switzerland

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G Klöppel Department of Pathology, Institute of Pathology, Department of Gastroenterology, Department of Pathology, Department of Pathology, Institute of Pathology, Institute of Surgical Pathology, Zurich, Switzerland

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H Moch
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P U Heitz
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P Komminoth Department of Pathology, Institute of Pathology, Department of Gastroenterology, Department of Pathology, Department of Pathology, Institute of Pathology, Institute of Surgical Pathology, Zurich, Switzerland

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A Perren Department of Pathology, Institute of Pathology, Department of Gastroenterology, Department of Pathology, Department of Pathology, Institute of Pathology, Institute of Surgical Pathology, Zurich, Switzerland
Department of Pathology, Institute of Pathology, Department of Gastroenterology, Department of Pathology, Department of Pathology, Institute of Pathology, Institute of Surgical Pathology, Zurich, Switzerland

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. Interestingly, VHL deletions and VHL promoter methylation occurred as alternative events in our tumor set. Summing them up, we describe here nearly 25% of sporadic PET with genomic VHL alteration, making this a frequent genetic event in sporadic PET. To

Article Type:
Research Article
DOI:
https://doi.org/10.1677/ERC-08-0297
Volume/Issue:
Volume 16: Issue 4
Free access
Luming Wu Department of Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, People’s Republic of China

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Jing Xie Department of Pathology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, People’s Republic of China

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Yan Qi Department of Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, People’s Republic of China

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Tingwei Su Department of Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, People’s Republic of China

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Lei Jiang Department of Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, People’s Republic of China

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Weiwei Zhou Department of Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, People’s Republic of China

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Yiran Jiang Department of Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, People’s Republic of China

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Cui Zhang Department of Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, People’s Republic of China

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Xu Zhong Department of Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, People’s Republic of China

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Yanan Cao Department of Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, People’s Republic of China

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Weiqing Wang Department of Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, People’s Republic of China
Shanghai National Clinical Research Center for Metabolic Diseases, Key Laboratory for Endocrine and Metabolic Diseases of the National Health Commission of the PR China, Shanghai Key Laboratory for Endocrine Tumor, State Key Laboratory of Medical Genomics, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, People's Republic of China

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( Tissier et al. 2005 , Bonnet et al. 2011 , Durand et al. 2011 ). In our study, 22 of all NFACA samples (36.67%) had genetic alterations in exon 3 of CTNNB1 ( Fig. 1 , Supplementary Table 3). The most frequent alterations were missense mutations

Article Type:
Research Article
DOI:
https://doi.org/10.1530/ERC-21-0410
Volume/Issue:
Volume 29: Issue 9
Restricted access
Ellinor Andersson Lundberg Laboratory for Cancer Research, Lundberg Laboratory for Cancer Research, Department of Pathology

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Christina Swärd Lundberg Laboratory for Cancer Research, Lundberg Laboratory for Cancer Research, Department of Pathology

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Göran Stenman Lundberg Laboratory for Cancer Research, Lundberg Laboratory for Cancer Research, Department of Pathology

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Håkan Ahlman Lundberg Laboratory for Cancer Research, Lundberg Laboratory for Cancer Research, Department of Pathology

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Ola Nilsson Lundberg Laboratory for Cancer Research, Lundberg Laboratory for Cancer Research, Department of Pathology

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et al . 1995 , Jakobsen et al . 2001 ). The aetiology of ileal carcinoids is unknown. The majority of tumours occurs sporadically and familial cases are extremely rare. Our knowledge about the genetic and epigenetic alterations that lead to ileal

Article Type:
Research Article
DOI:
https://doi.org/10.1677/ERC-09-0052
Volume/Issue:
Volume 16: Issue 3
Free access
Vincenzo Corbo ARC-NET Research Center, Department of Pathology, Department of Pathology, Technische Universität München, Department of Surgical and Gastroenterological Sciences, University of Verona, Policlinico G.B. Rossi c/o Piastra Odontoiatrica, Piazzale L.A. Scuro, 10, 37134 Verona, Italy

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Irene Dalai ARC-NET Research Center, Department of Pathology, Department of Pathology, Technische Universität München, Department of Surgical and Gastroenterological Sciences, University of Verona, Policlinico G.B. Rossi c/o Piastra Odontoiatrica, Piazzale L.A. Scuro, 10, 37134 Verona, Italy

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Maria Scardoni ARC-NET Research Center, Department of Pathology, Department of Pathology, Technische Universität München, Department of Surgical and Gastroenterological Sciences, University of Verona, Policlinico G.B. Rossi c/o Piastra Odontoiatrica, Piazzale L.A. Scuro, 10, 37134 Verona, Italy

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Stefano Barbi ARC-NET Research Center, Department of Pathology, Department of Pathology, Technische Universität München, Department of Surgical and Gastroenterological Sciences, University of Verona, Policlinico G.B. Rossi c/o Piastra Odontoiatrica, Piazzale L.A. Scuro, 10, 37134 Verona, Italy

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Stefania Beghelli ARC-NET Research Center, Department of Pathology, Department of Pathology, Technische Universität München, Department of Surgical and Gastroenterological Sciences, University of Verona, Policlinico G.B. Rossi c/o Piastra Odontoiatrica, Piazzale L.A. Scuro, 10, 37134 Verona, Italy

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Samantha Bersani ARC-NET Research Center, Department of Pathology, Department of Pathology, Technische Universität München, Department of Surgical and Gastroenterological Sciences, University of Verona, Policlinico G.B. Rossi c/o Piastra Odontoiatrica, Piazzale L.A. Scuro, 10, 37134 Verona, Italy
ARC-NET Research Center, Department of Pathology, Department of Pathology, Technische Universität München, Department of Surgical and Gastroenterological Sciences, University of Verona, Policlinico G.B. Rossi c/o Piastra Odontoiatrica, Piazzale L.A. Scuro, 10, 37134 Verona, Italy

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Luca Albarello ARC-NET Research Center, Department of Pathology, Department of Pathology, Technische Universität München, Department of Surgical and Gastroenterological Sciences, University of Verona, Policlinico G.B. Rossi c/o Piastra Odontoiatrica, Piazzale L.A. Scuro, 10, 37134 Verona, Italy

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Claudio Doglioni ARC-NET Research Center, Department of Pathology, Department of Pathology, Technische Universität München, Department of Surgical and Gastroenterological Sciences, University of Verona, Policlinico G.B. Rossi c/o Piastra Odontoiatrica, Piazzale L.A. Scuro, 10, 37134 Verona, Italy

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Christina Schott ARC-NET Research Center, Department of Pathology, Department of Pathology, Technische Universität München, Department of Surgical and Gastroenterological Sciences, University of Verona, Policlinico G.B. Rossi c/o Piastra Odontoiatrica, Piazzale L.A. Scuro, 10, 37134 Verona, Italy

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Paola Capelli ARC-NET Research Center, Department of Pathology, Department of Pathology, Technische Universität München, Department of Surgical and Gastroenterological Sciences, University of Verona, Policlinico G.B. Rossi c/o Piastra Odontoiatrica, Piazzale L.A. Scuro, 10, 37134 Verona, Italy

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Marco Chilosi ARC-NET Research Center, Department of Pathology, Department of Pathology, Technische Universität München, Department of Surgical and Gastroenterological Sciences, University of Verona, Policlinico G.B. Rossi c/o Piastra Odontoiatrica, Piazzale L.A. Scuro, 10, 37134 Verona, Italy
ARC-NET Research Center, Department of Pathology, Department of Pathology, Technische Universität München, Department of Surgical and Gastroenterological Sciences, University of Verona, Policlinico G.B. Rossi c/o Piastra Odontoiatrica, Piazzale L.A. Scuro, 10, 37134 Verona, Italy

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Letizia Boninsegna ARC-NET Research Center, Department of Pathology, Department of Pathology, Technische Universität München, Department of Surgical and Gastroenterological Sciences, University of Verona, Policlinico G.B. Rossi c/o Piastra Odontoiatrica, Piazzale L.A. Scuro, 10, 37134 Verona, Italy

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Karl-Friedrich Becker ARC-NET Research Center, Department of Pathology, Department of Pathology, Technische Universität München, Department of Surgical and Gastroenterological Sciences, University of Verona, Policlinico G.B. Rossi c/o Piastra Odontoiatrica, Piazzale L.A. Scuro, 10, 37134 Verona, Italy

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Massimo Falconi ARC-NET Research Center, Department of Pathology, Department of Pathology, Technische Universität München, Department of Surgical and Gastroenterological Sciences, University of Verona, Policlinico G.B. Rossi c/o Piastra Odontoiatrica, Piazzale L.A. Scuro, 10, 37134 Verona, Italy

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Aldo Scarpa ARC-NET Research Center, Department of Pathology, Department of Pathology, Technische Universität München, Department of Surgical and Gastroenterological Sciences, University of Verona, Policlinico G.B. Rossi c/o Piastra Odontoiatrica, Piazzale L.A. Scuro, 10, 37134 Verona, Italy
ARC-NET Research Center, Department of Pathology, Department of Pathology, Technische Universität München, Department of Surgical and Gastroenterological Sciences, University of Verona, Policlinico G.B. Rossi c/o Piastra Odontoiatrica, Piazzale L.A. Scuro, 10, 37134 Verona, Italy

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://www.ncbi.nlm.nih.gov ) reference sequence (GeneID 4221) were identified via manual inspection of aligned electropherograms assisted by the Mutation Surveyor software package (SoftGenetics, State College, PA, USA). The genetic alteration identified was cross-referenced to variant

Article Type:
Research Article
DOI:
https://doi.org/10.1677/ERC-10-0028
Volume/Issue:
Volume 17: Issue 3
Free access
Asterios Karagiannis
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Dimitri P Mikhailidis Division of Endocrinology, Department of Clinical Biochemistry,, Second Propedeutic Department of Internal Medicine, Medical School, Hippokration Hospital, Aristotle University of Thessaloniki, Thessaloniki 54642, Greece

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Vasilios G Athyros
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Faidon Harsoulis
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exclusively in children of fathers carrying the gene which was mapped to chromosome 11q13.1 but not identified yet ( Mariman et al . 1995 , Baysal et al . 1997 ). Genetic testing Hereditary catecholamine-producing PHEOs and PGLs can be caused by germline

Article Type:
Research Article
DOI:
https://doi.org/10.1677/ERC-07-0142
Volume/Issue:
Volume 14: Issue 4
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William R Doerfler Division of Endocrinology and Metabolism, University of Pittsburgh, Pittsburgh, Pennysylvania, USA

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Alyaksandr V Nikitski Department of Pathology, University of Pittsburgh, Pittsburgh, Pennysylvania, USA

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Elena M Morariu Division of Endocrinology and Metabolism, University of Pittsburgh, Pittsburgh, Pennysylvania, USA

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N Paul Ohori Department of Pathology, University of Pittsburgh, Pittsburgh, Pennysylvania, USA

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Simion I Chiosea Department of Pathology, University of Pittsburgh, Pittsburgh, Pennysylvania, USA

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Michael S Landau Department of Pathology, University of Pittsburgh, Pittsburgh, Pennysylvania, USA

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Marina N Nikiforova Department of Pathology, University of Pittsburgh, Pittsburgh, Pennysylvania, USA

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Yuri E Nikiforov Department of Pathology, University of Pittsburgh, Pittsburgh, Pennysylvania, USA

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Linwah Yip Division of Endocrine Surgery, University of Pittsburgh, Pittsburgh, Pennysylvania, USA

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Pooja Manroa Division of Endocrinology and Metabolism, University of Pittsburgh, Pittsburgh, Pennysylvania, USA
Division of Endocrinology, University of Texas Medical Branch, Galveston, Texas, USA

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reported widespread DNA copy number alterations (CNA), typically leading to near complete genome haploidization, as a likely genetic mechanism of HCC ( Corver et al. 2012 ). This type of CNA involved multiple chromosomes with chromosome-wide monosomy and

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DOI:
https://doi.org/10.1530/ERC-20-0435
Volume/Issue:
Volume 28: Issue 5
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