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José V Lima Jr Department of Medicine, Division of Endocrinology and Metabolism, Universidade Federal de São Paulo (UNIFESP), São Paulo, SP, Brazil
Santa Casa de São Paulo School of Medical Sciences, São Paulo, SP, Brazil
Fleury Group, São Paulo, SP, Brazil

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Nilza M Scalissi Santa Casa de São Paulo School of Medical Sciences, São Paulo, SP, Brazil

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Kelly C de Oliveira Department of Medicine, Division of Endocrinology and Metabolism, Universidade Federal de São Paulo (UNIFESP), São Paulo, SP, Brazil

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Susan C Lindsey Department of Medicine, Division of Endocrinology and Metabolism, Universidade Federal de São Paulo (UNIFESP), São Paulo, SP, Brazil

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Caroline Olivati Fleury Group, São Paulo, SP, Brazil

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Elisa Napolitano Ferreira Fleury Group, São Paulo, SP, Brazil

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Claudio E Kater Department of Medicine, Division of Endocrinology and Metabolism, Universidade Federal de São Paulo (UNIFESP), São Paulo, SP, Brazil

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, Giminez-Roqueplo et al. 2023 ). Cluster 1 includes genes related to the Krebs cycle. Characteristic genes are SDHA, SDHAF2, SDHB, SDHC, SDHD, FH,MDH2, GOT2, IDH1, SCLC25A11, EPAS1, and VHL . The presence of germline or somatic PVs in these genes

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EO-22-0091
Volume/Issue:
Volume 3: Issue 1
Open access
Christie G Turin Department of Medicine, Division of Endocrinology, Metabolism and Diabetes, University of Colorado, Aurora, Colorado, USA

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Molly M Crenshaw Department of Pediatrics, Combined Pediatrics-Medical Genetics Residency Program, University of Colorado, Aurora, Colorado, USA

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Lauren Fishbein Department of Medicine, Division of Endocrinology, Metabolism and Diabetes, University of Colorado, Aurora, Colorado, USA
Division of Biomedical Informatics and Personalized Medicine, University of Colorado School of Medicine, Aurora, Colorado, USA

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/PGL Adrenal PCC HNPGL Extra-adrenal PGL Risk of multifocal primary PCC/PGL Risk of metastatic disease VHL Autosomal dominant 19% 60% for type 2 +++ + + +++ <5% RET Autosomal dominant 50% +++ + + +++ <5

Article Type:
Review Article
DOI:
https://doi.org/10.1530/EO-22-0044
Volume/Issue:
Volume 2: Issue 1
Open access
Sofia Maria Lider Burciulescu CI Parhon National Institute of Endocrinology, Bucharest, Romania

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Caren Randon Department of Thoracic and Vascular Surgery, Ghent University Hospital & Department of Human Structure and Repair, Faculty of Medicine and Health Sciences, UGent, Ghent, Belgium

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Frederic Duprez Department of Radiotherapy-Oncology, Ghent University Hospital, Ghent Belgium & Department of Human Structure and Repair, Faculty of Medicine and Health Sciences, UGent, Ghent, Belgium

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Wouter Huvenne Department of Head and Neck Surgery, Ghent University Hospital & Department of Head & Skin, Faculty of Medicine and Health Sciences, UGent, Ghent, Belgium

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David Creytens Department of Pathology, Ghent University Hospital, Ghent University & Department of Diagnostic Sciences, Faculty of Medicine and Health Sciences, UGent, Ghent, Belgium

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Kathleen B M Claes Center for Medical Genetics, Ghent University Hospital & Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, UGent, Ghent, Belgium

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Robin de Putter Center for Medical Genetics, Ghent University Hospital & Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, UGent, Ghent, Belgium

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Guy T’Sjoen Department of Endocrinology, Ghent University Hospital & Department of Internal Medicine & Pediatrics, Faculty of Medicine and Health Sciences, UGent , Ghent, Belgium

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

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Bruno Lapauw Department of Endocrinology, Ghent University Hospital & Department of Internal Medicine & Pediatrics, Faculty of Medicine and Health Sciences, UGent , Ghent, Belgium

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included the most frequently mutated genes in PPGL: RET, VHL, NF1, MAX, SDHA, SDHB, SDHC, SDHD, SDHAF2, and TMEM127 . Depending on phenotypic features and/or year of diagnosis, patients were tested for a variable number of these genes. For patients with

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EO-22-0040
Volume/Issue:
Volume 3: Issue 1
Open access
Katherine A English OCDEM, Radcliffe Department of Medicine, University of Oxford, Churchill Hospital, Oxford, UK

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Rajesh V Thakker OCDEM, Radcliffe Department of Medicine, University of Oxford, Churchill Hospital, Oxford, UK
Oxford NIHR Biomedical Research Centre, Oxford University Hospitals Trust, Oxford, UK

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Kate E Lines OCDEM, Radcliffe Department of Medicine, University of Oxford, Churchill Hospital, Oxford, UK
Oxford NIHR Biomedical Research Centre, Oxford University Hospitals Trust, Oxford, UK

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–Lindau tumour-suppressor ( VHL ), TSC complex ( TSC ) , neurofibromin 1( NF1 ), MutY DNA glycosylase, BRCA2 DNA repair-associated, cyclin-dependent kinase inhibitor 1B ( CDKN1B ), and checkpoint kinase 2 genes ( Crona & Skogseid 2016 , Scarpa et al. 2017

Article Type:
Review Article
DOI:
https://doi.org/10.1530/EO-23-0003
Volume/Issue:
Volume 3: Issue 1
Open access
Catherine M Skefos The University of Texas MD Anderson Cancer Center, Clinical Cancer Genetics Program, Houston, Texas, USA

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Pamela L Brock The Ohio State University College of Medicine, Division of Human Genetics, Comprehensive Cancer Center, Columbus, Ohio, USA

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Erica Blouch Massachusetts General Hospital Cancer Center, Boston, Massachusetts, USA

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Samantha E Greenberg Department of Health Care Sciences, UT Southwestern Medical Center, Dallas, Texas, USA

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. PVs in RET, FH, VHL, NF1 , and other genes are also known to increase the risk of PGL and/or PCC. Although individuals with hereditary PPGL syndrome may develop any SDHx - related tumors, the penetrance and phenotype of hereditary PPGL syndrome

Article Type:
Commentary
DOI:
https://doi.org/10.1530/EO-23-0043
Volume/Issue:
Volume 4: Issue 1
Open access