Qiuli Liu
Qiuli Liu
Department of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, People’s Republic of China
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Gang Yuan
Gang Yuan
Department of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, People’s Republic of China
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Dali Tong
Dali Tong
Department of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, People’s Republic of China
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Gaolei Liu
Gaolei Liu
Department of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, People’s Republic of China
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Yuting Yi
Yuting Yi
Geneplus-Beijing Institute, Beijing, People’s Republic of China
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Jun Zhang
Jun Zhang
Department of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, People’s Republic of China
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Yao Zhang
Yao Zhang
Department of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, People’s Republic of China
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Lin-ang Wang
Lin-ang Wang
Department of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, People’s Republic of China
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Luofu Wang
Luofu Wang
Department of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, People’s Republic of China
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Dianzheng Zhang
Dianzheng Zhang
Department of Bio-Medical Sciences, Philadelphia College of Osteopathic Medicine, Philadelphia, Pennsylvania, USA
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Rongrong Chen
Rongrong Chen
Geneplus-Beijing Institute, Beijing, People’s Republic of China
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Yanfang Guan
Yanfang Guan
Geneplus-Beijing Institute, Beijing, People’s Republic of China
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Xin Yi
Xin Yi
Geneplus-Beijing Institute, Beijing, People’s Republic of China
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Weihua Lan
Weihua Lan
Department of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, People’s Republic of China
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Jun Jiang
Jun Jiang
Department of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, People’s Republic of China
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Introduction Von Hippel–Lindau (VHL) disease is a rare autosomal dominant disease that manifests as a variety of benign and malignant neoplasms, including retinal hemangioma (HB), HB of the central nervous system (CNS), pancreatic
João Castro-Teles
João Castro-Teles
Department of Biomedicine, Faculty of Medicine of the University of Porto, Porto, Portugal
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Bernardo Sousa-Pinto
Bernardo Sousa-Pinto
MEDCIDS, Department of Community Medicine, Information and Health Decision Sciences, Faculty of Medicine, University of Porto, Porto, Portugal
CINTESIS, Center for Health Technology and Services Research, University of Porto, Porto, Portugal
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CINTESIS, Center for Health Technology and Services Research, University of Porto, Porto, Portugal
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Sandra Rebelo
Sandra Rebelo
Department of Biomedicine, Faculty of Medicine of the University of Porto, Porto, Portugal
Instituto de Investigação e Inovação em Saúde (i3S), Universidade do Porto, Porto, Portugal
Department of Clinical Pathology, Centro Hospitalar Universitário de São João (CHUSJ), Porto, Portugal
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Instituto de Investigação e Inovação em Saúde (i3S), Universidade do Porto, Porto, Portugal
Department of Clinical Pathology, Centro Hospitalar Universitário de São João (CHUSJ), Porto, Portugal
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Duarte Pignatelli
Duarte Pignatelli
Department of Biomedicine, Faculty of Medicine of the University of Porto, Porto, Portugal
Instituto de Investigação e Inovação em Saúde (i3S), Universidade do Porto, Porto, Portugal
Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Porto, Portugal
Department of Endocrinology, Centro Hospitalar Universitário de São João (CHUSJ), Porto, Portugal
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Instituto de Investigação e Inovação em Saúde (i3S), Universidade do Porto, Porto, Portugal
Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Porto, Portugal
Department of Endocrinology, Centro Hospitalar Universitário de São João (CHUSJ), Porto, Portugal
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Introduction Von Hippel–Lindau disease (vHL) is a rare hereditary autosomal dominant disorder resulting from the presence of pathogenic variants on the VHL gene ( 1 ), with a point prevalence estimated (as per the first nationwide study on
Roland Därr
Roland Därr
Department of Cardiology and Angiology I, Heart Center Freiburg University, Faculty of Medicine, University of Freiburg, Freiburg, Germany
Department of Medicine IV, Medical Center – University of Freiburg
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Department of Medicine IV, Medical Center – University of Freiburg
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Jonas Kater
Jonas Kater
Department of Medicine IV, Medical Center – University of Freiburg
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Peggy Sekula
Peggy Sekula
Institute of Genetic Epidemiology, University Medical Center Freiburg, Freiburg, Germany
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Birke Bausch
Birke Bausch
Department of Medicine II, Medical Center – University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany
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Tobias Krauss
Tobias Krauss
Department of Radiology, Medical Center – University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany
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Christoph Bode
Christoph Bode
Department of Cardiology and Angiology I, Heart Center Freiburg University, Faculty of Medicine, University of Freiburg, Freiburg, Germany
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Gerd Walz
Gerd Walz
Department of Medicine IV, Medical Center – University of Freiburg
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Hartmut P Neumann
Hartmut P Neumann
Section for Preventive Medicine, Faculty of Medicine, University of Freiburg, Freiburg, Germany
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Stefan Zschiedrich
Stefan Zschiedrich
Department of Medicine IV, Medical Center – University of Freiburg
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Introduction Von Hippel-Lindau (VHL) disease is an inherited autosomal-dominant tumour predisposition syndrome caused by inactivating mutations of the VHL tumour suppressor gene. The disorder is characterised by the frequent development of
Huy Gia Vuong
Huy Gia Vuong
Department of Pathology, Cho Ray Hospital, Ho Chi Minh City, Vietnam
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Uyen N P Duong
Uyen N P Duong
Pham Ngoc Thach University of Medicine, Ho Chi Minh City, Vietnam
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Ahmed M A Altibi
Ahmed M A Altibi
Faculty of Medicine, University of Jordan, Amman, Jordan
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Hanh T T Ngo
Hanh T T Ngo
Department of Pathology, University of Medicine and Pharmacy, Ho Chi Minh City, Vietnam
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Thong Quang Pham
Thong Quang Pham
Department of Pathology, Cho Ray Hospital, Ho Chi Minh City, Vietnam
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Hung Minh Tran
Hung Minh Tran
Faculty of Medicine, University of Medicine and Pharmacy, Ho Chi Minh City, Vietnam
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Greta Gandolfi
Greta Gandolfi
Laboratory of Translational Research, Arcispedale S. Maria Nuova-IRCCS, Reggio Emilia, Italy
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Lewis Hassell
Lewis Hassell
Department of Pathology, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA
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, 35 articles with a total of 17,732 PTC patients were included for final analysis ( Fig. 1 ). Figure 1 Study flowchart. DFS, disease-free survival; DSS, disease-specific survival; HR, hazard ratio; KMC, Kaplan Meier curve; VHL, Virtual Health
Sofia Maria Lider Burciulescu
Sofia Maria Lider Burciulescu
University of Medicine and Pharmacy Carol Davila Bucharest, Bucharest, Romania
National Institute of Endocrinology CI Parhon, Bucharest, Romania
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National Institute of Endocrinology CI Parhon, Bucharest, Romania
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Monica Livia Gheorghiu
Monica Livia Gheorghiu
University of Medicine and Pharmacy Carol Davila Bucharest, Bucharest, Romania
National Institute of Endocrinology CI Parhon, Bucharest, Romania
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National Institute of Endocrinology CI Parhon, Bucharest, Romania
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Andrei Muresan
Andrei Muresan
National Institute of Endocrinology CI Parhon, Bucharest, Romania
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Iuliana Gherlan
Iuliana Gherlan
University of Medicine and Pharmacy Carol Davila Bucharest, Bucharest, Romania
National Institute of Endocrinology CI Parhon, Bucharest, Romania
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National Institute of Endocrinology CI Parhon, Bucharest, Romania
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Attila Patocs
Attila Patocs
Department of Laboratory Medicine and Molecular Genetics, Clinical Genetics and Endocrinology Laboratory, Semmelweis University National Institute of Oncology, Budapest, Hungary
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Corin Badiu
Corin Badiu
University of Medicine and Pharmacy Carol Davila Bucharest, Bucharest, Romania
National Institute of Endocrinology CI Parhon, Bucharest, Romania
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National Institute of Endocrinology CI Parhon, Bucharest, Romania
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frequently described in the syndromes of multiple endocrine neoplasia (MEN) type 2A and type 2B, in certain families with von Hippel–Lindau disease ( VHL ) or in patients with MAX and TMEM127 gene mutation ( 3 , 7 ). Not all bilateral PHEOs are
Joakim Crona
Joakim Crona
Departments of Surgical Sciences, Medical Sciences, Uppsala University, S-751 85 Uppsala, Sweden
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Alberto Delgado Verdugo
Alberto Delgado Verdugo
Departments of Surgical Sciences, Medical Sciences, Uppsala University, S-751 85 Uppsala, Sweden
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Dan Granberg
Dan Granberg
Departments of Surgical Sciences, Medical Sciences, Uppsala University, S-751 85 Uppsala, Sweden
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Staffan Welin
Staffan Welin
Departments of Surgical Sciences, Medical Sciences, Uppsala University, S-751 85 Uppsala, Sweden
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Peter Stålberg
Peter Stålberg
Departments of Surgical Sciences, Medical Sciences, Uppsala University, S-751 85 Uppsala, Sweden
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Per Hellman
Per Hellman
Departments of Surgical Sciences, Medical Sciences, Uppsala University, S-751 85 Uppsala, Sweden
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Peyman Björklund
Peyman Björklund
Departments of Surgical Sciences, Medical Sciences, Uppsala University, S-751 85 Uppsala, Sweden
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of underlying molecular mechanisms in the tumorigenesis of these diseases has increased dramatically during the last decade (1) . Up to 80% of all PCC and PGL could have either germline or somatic mutations (2, 3, 4) in one of the 11 hitherto known
Gemma White
Gemma White
Department of Diabetes and Endocrinology, Guy’s and St Thomas’ NHS Foundation Trust, London, UK
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Anand Velusamy
Anand Velusamy
Department of Diabetes and Endocrinology, Guy’s and St Thomas’ NHS Foundation Trust, London, UK
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Samantha Anandappa
Samantha Anandappa
Department of Diabetes and Endocrinology, Guy’s and St Thomas’ NHS Foundation Trust, London, UK
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Michael Masucci
Michael Masucci
Department of Diabetes and Endocrinology, Guy’s and St Thomas’ NHS Foundation Trust, London, UK
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Louise A Breen
Louise A Breen
Department of Diabetes and Endocrinology, Guy’s and St Thomas’ NHS Foundation Trust, London, UK
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Mamta Joshi
Mamta Joshi
Department of Diabetes and Endocrinology, Guy’s and St Thomas’ NHS Foundation Trust, London, UK
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Barbara McGowan
Barbara McGowan
Department of Diabetes and Endocrinology, Guy’s and St Thomas’ NHS Foundation Trust, London, UK
Faculty of Life Sciences and Medicine, King’s College London, London, UK
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Faculty of Life Sciences and Medicine, King’s College London, London, UK
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Johnathan G H Hubbard
Johnathan G H Hubbard
Department of Endocrine Surgery, Guy’s and St Thomas’ NHS Foundation Trust, London, UK
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Rupert Obholzer
Rupert Obholzer
Department of Ear, Nose and Throat Surgery, Guy’s and St Thomas’ NHS Foundation Trust, London, UK
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Dimitra Christodoulou
Dimitra Christodoulou
Department of Radiology, Guy’s and St Thomas’ NHS Foundation Trust, London, UK
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Audrey Jacques
Audrey Jacques
Department of Radiology, Guy’s and St Thomas’ NHS Foundation Trust, London, UK
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Philip Touska
Philip Touska
Department of Radiology, Guy’s and St Thomas’ NHS Foundation Trust, London, UK
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Fahim-Ul Hassan
Fahim-Ul Hassan
Department of Nuclear Medicine, Guy’s and St Thomas’ NHS Foundation Trust, London, UK
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Louise Izatt
Louise Izatt
Department of Clinical Genetics, Guy’s and St Thomas’ NHS Foundation Trust, London, UK
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Paul V Carroll
Paul V Carroll
Department of Diabetes and Endocrinology, Guy’s and St Thomas’ NHS Foundation Trust, London, UK
Faculty of Life Sciences and Medicine, King’s College London, London, UK
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Faculty of Life Sciences and Medicine, King’s College London, London, UK
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SDHD carriers, respectively, at age of 60 years ( 5 ). In terms of location, SDHB -related tumours occur most commonly along the sympathetic chain, whereas SDHD -related disease predominantly affects the parasympathetic ganglia of the head and neck
Yiqiang Huang
Yiqiang Huang
Department of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, People’s Republic of China
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Lin-ang Wang
Lin-ang Wang
Department of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, People’s Republic of China
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Qiubo Xie
Qiubo Xie
Department of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, People’s Republic of China
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Jian Pang
Jian Pang
Department of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, People’s Republic of China
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Luofu Wang
Luofu Wang
Department of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, People’s Republic of China
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Yuting Yi
Yuting Yi
Geneplus-Beijing Institute, Beijing, People’s Republic of China
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Jun Zhang
Jun Zhang
Department of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, People’s Republic of China
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Yao Zhang
Yao Zhang
Department of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, People’s Republic of China
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Rongrong Chen
Rongrong Chen
Geneplus-Beijing Institute, Beijing, People’s Republic of China
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Weihua Lan
Weihua Lan
Department of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, People’s Republic of China
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Dianzheng Zhang
Dianzheng Zhang
Department of Bio-Medical Sciences, Philadelphia College of Osteopathic Medicine, Philadelphia, Pennsylvania, USA
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Jun Jiang
Jun Jiang
Department of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, People’s Republic of China
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a case of HIF2A germline-mutation-induced polycythemia in a patient with VHL-associated renal cell carcinoma ( 17 , 34 ). It is likely for this reason that the pseudohypoxia-related PCC/PGL is fundamentally a metabolic disease. In our study, the
Natalie Rogowski-Lehmann
Natalie Rogowski-Lehmann
Medizinische Klinik und Poliklinik IV, Klinikum der Universität München, Munich, Germany
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Aikaterini Geroula
Aikaterini Geroula
Institut für Klinische Chemie und Laboratoriumsmedizin, Universitätsklinikum Carl Gustav Carus an der TU Dresden, Dresden, Germany
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Aleksander Prejbisz
Aleksander Prejbisz
Department of Hypertension, Institute of Cardiology, Warsaw, Poland
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Henri J L M Timmers
Henri J L M Timmers
Section of Endocrinology, Department of Internal Medicine, Radboud University Medical Centre, Nijmegen, The Netherlands
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Felix Megerle
Felix Megerle
Medizinische Klinik und Poliklinik I des Universitätsklinikums Würzburg, Würzburg, Germany
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Mercedes Robledo
Mercedes Robledo
Hereditary Endocrine Cancer Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre, Centro de Investigacion Biomedica en Red de Enfermedades Raras (CIBERER), Madrid, Spain
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Martin Fassnacht
Martin Fassnacht
Medizinische Klinik und Poliklinik I des Universitätsklinikums Würzburg, Würzburg, Germany
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Stephanie M J Fliedner
Stephanie M J Fliedner
First Department of Medicine, University Medical Center Schleswig-Holstein, Lübeck, Germany
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Martin Reincke
Martin Reincke
Medizinische Klinik und Poliklinik IV, Klinikum der Universität München, Munich, Germany
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Anthony Stell
Anthony Stell
Department of Computing and Information, University of Melbourne, Melbourne Australia
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Andrzej Januszewicz
Andrzej Januszewicz
Department of Hypertension, Institute of Cardiology, Warsaw, Poland
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Jacques W M Lenders
Jacques W M Lenders
Section of Endocrinology, Department of Internal Medicine, Radboud University Medical Centre, Nijmegen, The Netherlands
Medizinische Klinik III, Universitätsklinikum Carl Gustav Carus an der Technische Universität Dresden, Dresden, Germany
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Medizinische Klinik III, Universitätsklinikum Carl Gustav Carus an der Technische Universität Dresden, Dresden, Germany
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Graeme Eisenhofer
Graeme Eisenhofer
Institut für Klinische Chemie und Laboratoriumsmedizin, Universitätsklinikum Carl Gustav Carus an der TU Dresden, Dresden, Germany
Medizinische Klinik III, Universitätsklinikum Carl Gustav Carus an der Technische Universität Dresden, Dresden, Germany
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Medizinische Klinik III, Universitätsklinikum Carl Gustav Carus an der Technische Universität Dresden, Dresden, Germany
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Felix Beuschlein
Felix Beuschlein
Medizinische Klinik und Poliklinik IV, Klinikum der Universität München, Munich, Germany
Klinik für Endokrinologie, Diabetologie und Klinische Ernährung, Universitätsspital Zürich, Zürich, Switzerland
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Klinik für Endokrinologie, Diabetologie und Klinische Ernährung, Universitätsspital Zürich, Zürich, Switzerland
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blood pressure. Thereby, the disease represents a surgically correctable form of hypertension. As a consequence of the unpredictable hormone secretion, the tumors are potentially very harmful if not quickly diagnosed and treated. In fact, retrospective
Catherine Cardot Bauters
Catherine Cardot Bauters
CHU Lille, Service d’Endocrinologie, Diabétologie, Métabolisme-Nutrition, Hôpital Claude Huriez, Lille, France
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Emmanuelle Leteurtre
Emmanuelle Leteurtre
Univ. Lille, Inserm, CHU Lille, UMR-S 1277-CANTHER, Cancer Heterogeneity, Plasticity & Resistance to Therapies, Lille, France
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Bruno Carnaille
Bruno Carnaille
CHU Lille, Service de Chirurgie Endocrine, Hôpital Claude Huriez, Lille, France
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Christine Do Cao
Christine Do Cao
CHU Lille, Service d’Endocrinologie, Diabétologie, Métabolisme-Nutrition, Hôpital Claude Huriez, Lille, France
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Stéphanie Espiard
Stéphanie Espiard
CHU Lille, Service d’Endocrinologie, Diabétologie, Métabolisme-Nutrition, Hôpital Claude Huriez, Lille, France
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Malo Penven
Malo Penven
CHU Lille, Service de Biochimie Hormonologie, Métabolisme, Nutrition-Oncologie, Centre de Biologie Pathologie Génétique, Lille, France
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Evelyne Destailleur
Evelyne Destailleur
CHU Lille, Service de Biochimie Hormonologie, Métabolisme, Nutrition-Oncologie, Centre de Biologie Pathologie Génétique, Lille, France
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Isabelle Szuster
Isabelle Szuster
CHU Lille, Service de Biochimie Hormonologie, Métabolisme, Nutrition-Oncologie, Centre de Biologie Pathologie Génétique, Lille, France
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Tonio Lovecchio
Tonio Lovecchio
CHU Lille, Service de Biochimie Hormonologie, Métabolisme, Nutrition-Oncologie, Centre de Biologie Pathologie Génétique, Lille, France
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Julie Leclerc
Julie Leclerc
Univ. Lille, Inserm, CHU Lille, UMR-S 1277-CANTHER, Cancer Heterogeneity, Plasticity & Resistance to Therapies, Lille, France
CHU Lille, Service de Biochimie Hormonologie, Métabolisme, Nutrition-Oncologie, Centre de Biologie Pathologie Génétique, Lille, France
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CHU Lille, Service de Biochimie Hormonologie, Métabolisme, Nutrition-Oncologie, Centre de Biologie Pathologie Génétique, Lille, France
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Fredéric Frénois
Fredéric Frénois
Univ. Lille, CHU Lille, EA-7364 RADEME, Faculté de Médecine, Lille, France
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Emmanuel Esquivel
Emmanuel Esquivel
Dept Medicine, Mays Cancer Center, University of Texas Health Science Center at San Antonio, San Antonio, Texas, USA
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Patricia L M Dahia
Patricia L M Dahia
Dept Medicine, Mays Cancer Center, University of Texas Health Science Center at San Antonio, San Antonio, Texas, USA
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Emilie Ait-Yahya
Emilie Ait-Yahya
CHU Lille, Institut de Biochimie & Biologie Moléculaire, Centre de Biologie Pathologie Génétique, Lille, France
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Michel Crépin
Michel Crépin
CHU Lille, Service de Biochimie Hormonologie, Métabolisme, Nutrition-Oncologie, Centre de Biologie Pathologie Génétique, Lille, France
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Pascal Pigny
Pascal Pigny
CHU Lille, Service de Biochimie Hormonologie, Métabolisme, Nutrition-Oncologie, Centre de Biologie Pathologie Génétique, Lille, France
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). Thus, the KIF1Bβ neuronal pro-apoptotic effect combined with the mapping of KIF1B on chromosome 1p36, a region frequently deleted in PCC and NB ( 5 ), suggested that KIF1B might function as a tumor suppressor gene (TSG) in these diseases ( 3
