Luigia Cinque
Luigia Cinque
Medical Genetics, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo (FG), Italy
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Angelo Sparaneo
Angelo Sparaneo
Laboratory of Oncology, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo (FG), Italy
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Antonio S Salcuni
Antonio S Salcuni
Endocrinology, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo (FG), Italy
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Danilo de Martino
Danilo de Martino
Thoracic Surgery, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo (FG), Italy
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Claudia Battista
Claudia Battista
Endocrinology, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo (FG), Italy
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Francesco Logoluso
Francesco Logoluso
Department of Emergency and Organ Transplantation, Unit of Endocrinology, University Medical School of Bari ‘Aldo Moro’, Bari, Italy
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Orazio Palumbo
Orazio Palumbo
Medical Genetics, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo (FG), Italy
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Roberto Cocchi
Roberto Cocchi
Maxillofacial Surgery, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo (FG), Italy
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Evaristo Maiello
Evaristo Maiello
Oncoematology, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo (FG), Italy
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Paolo Graziano
Paolo Graziano
Pathology, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo (FG), Italy
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Geoffrey N Hendy
Geoffrey N Hendy
Departments of Medicine, Physiology and Human Genetics, McGill University and Metabolic Disorders and Complications, McGill University Health Centre Research Institute, Montreal, Quebec, Canada
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David E C Cole
David E C Cole
Departments of Laboratory Medicine and Pathobiology, Medicine and Genetics, University of Toronto, Toronto, Ontario, Canada
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Alfredo Scillitani
Alfredo Scillitani
Endocrinology, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo (FG), Italy
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Vito Guarnieri
Vito Guarnieri
Medical Genetics, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo (FG), Italy
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inactivating mutations of the MEN1 gene, encoding menin, an intracellular protein that interacts with transcription factors involved in cell cycle regulation and proliferation ( 8 ). Fifteen well-documented cases of parathyroid carcinoma (PC) and one atypical
Sara Lomelino Pinheiro
Sara Lomelino Pinheiro
Serviço de Endocrinologia, Instituto Português de Oncologia de Lisboa Francisco Gentil, Lisboa, Portugal
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Ana Saramago
Ana Saramago
Unidade de Investigação em Patobiologia Molecular, Instituto Português de Oncologia de Lisboa Francisco Gentil, Lisboa, Portugal
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Branca Maria Cavaco
Branca Maria Cavaco
Unidade de Investigação em Patobiologia Molecular, Instituto Português de Oncologia de Lisboa Francisco Gentil, Lisboa, Portugal
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Carmo Martins
Carmo Martins
Unidade de Investigação em Patobiologia Molecular, Instituto Português de Oncologia de Lisboa Francisco Gentil, Lisboa, Portugal
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Valeriano Leite
Valeriano Leite
Serviço de Endocrinologia e Unidade de Investigação em Patobiologia Molecular, Instituto Português de Oncologia de Lisboa Francisco Gentil, Lisboa, Portugal
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Tiago Nunes da Silva
Tiago Nunes da Silva
Serviço de Endocrinologia e Unidade de Investigação em Patobiologia Molecular, Instituto Português de Oncologia de Lisboa Francisco Gentil, Lisboa, Portugal
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hyperparathyroidism (FIHP; CDC73/HRPT2 and GCM2 genes) and, rarely, in multiple endocrine neoplasia type 1 (MEN1, MEN1 gene) and 2A (MEN2A; RET gene) ( 2 , 3 ). MEN1 is a rare disorder characterized by PHPT, pituitary and gastroenteropancreatic
Cristina Lamas
Cristina Lamas
Department of Endocrinology and Nutrition, Complejo Hospitalario Universitario de Albacete, Albacete, Spain
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Elena Navarro
Elena Navarro
Department of Endocrinology and Nutrition, Hospital Universitario Virgen del Rocío, Sevilla, Spain
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Anna Casterás
Anna Casterás
Department of Endocrinology and Nutrition, Hospital Vall d’Hebron, Barcelona, Spain
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Paloma Portillo
Paloma Portillo
Department of Endocrinology and Nutrition, Hospital Clínico Universitario Virgen de la Arrixaca, Murcia, Spain
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Victoria Alcázar
Victoria Alcázar
Department of Endocrinology and Nutrition, Hospital Universitario Severo Ochoa, Leganés, Spain
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María Calatayud
María Calatayud
Department of Endocrinology and Nutrition, Hospital Univeristario Doce de Octubre, Madrid, Spain
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Cristina Álvarez-Escolá
Cristina Álvarez-Escolá
Department of Endocrinology and Nutrition, Hospital Universitario La Paz, Madrid, Spain
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Julia Sastre
Julia Sastre
Department of Endocrinology and Nutrition, Complejo Hospitalario de Toledo, Hospital Virgen de la Salud, Toledo, Spain
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Evangelina Boix
Evangelina Boix
Department of Endocrinology and Nutrition, Hospital General Universitario de Elche, Elche, Spain
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Lluis Forga
Lluis Forga
Department of Endocrinology and Nutrition, Complejo Hospitalario de Navarra, Hospital de Navarra, Pamplona, Spain
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Almudena Vicente
Almudena Vicente
Department of Endocrinology and Nutrition, Complejo Hospitalario de Toledo, Hospital Virgen de la Salud, Toledo, Spain
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Josep Oriola
Josep Oriola
Biochemistry and Molecular Genetics Department, Hospital Clínic i Universitari de Barcelona, Barcelona, Spain
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Jordi Mesa
Jordi Mesa
Department of Endocrinology and Nutrition, Hospital Vall d’Hebron, Barcelona, Spain
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Nuria Valdés
Nuria Valdés
Department of Endocrinology and Nutrition, Hospital Universitario Central de Asturias, Oviedo, Spain
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significant prognostic factors for remission. Surgical outcome in relation to mutated exon is presented in Table 4 . Table 4 Surgical outcomes in the 57 operated patients harboring mutations in different exons of the MEN1 gene ( P < 0.001 for chi
K E Lines
K E Lines
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R P Vas Nunes
R P Vas Nunes
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M Frost
M Frost
Academic Endocrine Unit, OCDEM, University of Oxford, Churchill Hospital, Oxford, UK
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C J Yates
C J Yates
Academic Endocrine Unit, OCDEM, University of Oxford, Churchill Hospital, Oxford, UK
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M Stevenson
M Stevenson
Academic Endocrine Unit, OCDEM, University of Oxford, Churchill Hospital, Oxford, UK
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R V Thakker
R V Thakker
Academic Endocrine Unit, OCDEM, University of Oxford, Churchill Hospital, Oxford, UK
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pituitary (1) . MEN1 is caused by heterozygous germline mutations of the MEN1 gene, and tumours developed by MEN1 patients show loss of the remaining normal copy of the MEN1 gene, a ‘second-hit’, demonstrating the tumour suppressor function of its
Weixi Wang
Weixi Wang
Shanghai Key Laboratory for Endocrine Tumors, Shanghai Clinical Center for Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases and Shanghai E-Institute for Endocrinology, Ruijin Hospital, Shanghai Jiaotong University, School of Medicine, Shanghai, China
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Rulai Han
Rulai Han
Shanghai Key Laboratory for Endocrine Tumors, Shanghai Clinical Center for Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases and Shanghai E-Institute for Endocrinology, Ruijin Hospital, Shanghai Jiaotong University, School of Medicine, Shanghai, China
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Lei Ye
Lei Ye
Shanghai Key Laboratory for Endocrine Tumors, Shanghai Clinical Center for Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases and Shanghai E-Institute for Endocrinology, Ruijin Hospital, Shanghai Jiaotong University, School of Medicine, Shanghai, China
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Jing Xie
Jing Xie
Department of Pathology, Ruijin Hospital, Shanghai Jiao Tong University, School of Medicine, Shanghai, China
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Bei Tao
Bei Tao
Shanghai Key Laboratory for Endocrine Tumors, Shanghai Clinical Center for Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases and Shanghai E-Institute for Endocrinology, Ruijin Hospital, Shanghai Jiaotong University, School of Medicine, Shanghai, China
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Fukang Sun
Fukang Sun
Department of Urology, Ruijin Hospital, Shanghai Jiao Tong University, School of Medicine, Shanghai, China
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Ran Zhuo
Ran Zhuo
Department of Urology, Ruijin Hospital, Shanghai Jiao Tong University, School of Medicine, Shanghai, China
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Xi Chen
Xi Chen
Department of General Surgery, Ruijin Hospital, Shanghai Jiaotong University, School of Medicine, Shanghai, China
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Xiaxing Deng
Xiaxing Deng
Pancreatic Disease Centre, Ruijin Hospital, Shanghai Jiao Tong University, School of Medicine, Shanghai, China
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Cong Ye
Cong Ye
Department of Thoracic Surgery, Shanghai Pulmonary Hospital, Tongji University, Shanghai, China
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Hongyan Zhao
Hongyan Zhao
Shanghai Key Laboratory for Endocrine Tumors, Shanghai Clinical Center for Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases and Shanghai E-Institute for Endocrinology, Ruijin Hospital, Shanghai Jiaotong University, School of Medicine, Shanghai, China
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Shu Wang
Shu Wang
Shanghai Key Laboratory for Endocrine Tumors, Shanghai Clinical Center for Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases and Shanghai E-Institute for Endocrinology, Ruijin Hospital, Shanghai Jiaotong University, School of Medicine, Shanghai, China
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QIAamp DNA FFPE Tissue Kit (QIAGEN). Exon 2–10 of the MEN1 gene, coding region of TP53 and exon 3 of CTNNB1 were amplified and analyzed by Sanger sequencing. The primer sequences of MEN1 were previously reported ( 23 ), while the primer sequences
Elena Pardi
Elena Pardi
Endocrine Unit 2, Endocrinology Unit, Institute of Pathology, Department of Surgical, Department of Clinical and Experimental Medicine, University Hospital of Pisa, University of Pisa, Via Paradisa 2, Pisa, Italy
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Stefano Mariotti
Stefano Mariotti
Endocrine Unit 2, Endocrinology Unit, Institute of Pathology, Department of Surgical, Department of Clinical and Experimental Medicine, University Hospital of Pisa, University of Pisa, Via Paradisa 2, Pisa, Italy
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Natalia S Pellegata
Natalia S Pellegata
Endocrine Unit 2, Endocrinology Unit, Institute of Pathology, Department of Surgical, Department of Clinical and Experimental Medicine, University Hospital of Pisa, University of Pisa, Via Paradisa 2, Pisa, Italy
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Katiuscia Benfini
Katiuscia Benfini
Endocrine Unit 2, Endocrinology Unit, Institute of Pathology, Department of Surgical, Department of Clinical and Experimental Medicine, University Hospital of Pisa, University of Pisa, Via Paradisa 2, Pisa, Italy
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Simona Borsari
Simona Borsari
Endocrine Unit 2, Endocrinology Unit, Institute of Pathology, Department of Surgical, Department of Clinical and Experimental Medicine, University Hospital of Pisa, University of Pisa, Via Paradisa 2, Pisa, Italy
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Federica Saponaro
Federica Saponaro
Endocrine Unit 2, Endocrinology Unit, Institute of Pathology, Department of Surgical, Department of Clinical and Experimental Medicine, University Hospital of Pisa, University of Pisa, Via Paradisa 2, Pisa, Italy
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Liborio Torregrossa
Liborio Torregrossa
Endocrine Unit 2, Endocrinology Unit, Institute of Pathology, Department of Surgical, Department of Clinical and Experimental Medicine, University Hospital of Pisa, University of Pisa, Via Paradisa 2, Pisa, Italy
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Antonello Cappai
Antonello Cappai
Endocrine Unit 2, Endocrinology Unit, Institute of Pathology, Department of Surgical, Department of Clinical and Experimental Medicine, University Hospital of Pisa, University of Pisa, Via Paradisa 2, Pisa, Italy
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Chiara Satta
Chiara Satta
Endocrine Unit 2, Endocrinology Unit, Institute of Pathology, Department of Surgical, Department of Clinical and Experimental Medicine, University Hospital of Pisa, University of Pisa, Via Paradisa 2, Pisa, Italy
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Marco Mastinu
Marco Mastinu
Endocrine Unit 2, Endocrinology Unit, Institute of Pathology, Department of Surgical, Department of Clinical and Experimental Medicine, University Hospital of Pisa, University of Pisa, Via Paradisa 2, Pisa, Italy
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Claudio Marcocci
Claudio Marcocci
Endocrine Unit 2, Endocrinology Unit, Institute of Pathology, Department of Surgical, Department of Clinical and Experimental Medicine, University Hospital of Pisa, University of Pisa, Via Paradisa 2, Pisa, Italy
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Filomena Cetani
Filomena Cetani
Endocrine Unit 2, Endocrinology Unit, Institute of Pathology, Department of Surgical, Department of Clinical and Experimental Medicine, University Hospital of Pisa, University of Pisa, Via Paradisa 2, Pisa, Italy
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the MEN1 gene yielded negative results. The subsequent follow-up was notable for the evidence of gastro–entero–pancreatic NETs, which were initially treated with proton-pump inhibitors and somatostatin analogs, and then successfully by surgery. At
Arnaud Lagarde
Arnaud Lagarde
Aix Marseille Univ, APHM, INSERM, MMG, Laboratory of Molecular Biology Hospital La Conception, Marseille, France
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Grégory Mougel
Grégory Mougel
Aix Marseille Univ, APHM, INSERM, MMG, Laboratory of Molecular Biology Hospital La Conception, Marseille, France
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Lucie Coppin
Lucie Coppin
Univ. Lille, CNRS, Inserm, CHU Lille, UMR9020-U1277 – CANTHER – Cancer – Heterogeneity Plasticity and Resistance to Therapies, Lille, France
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Magalie Haissaguerre
Magalie Haissaguerre
Service d’Endocrinologie, Centre Hospitalier Universitaire, Hôpital du Haut Levêque, Pessac, France
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Lauriane Le Collen
Lauriane Le Collen
Endocrinology, Diabetology and Nutrition Unit, University Hospital of Reims, Reims, France
Inserm/CNRS UMR 1283/8199, Pasteur Institute of Lille, EGID, Lille, France
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Inserm/CNRS UMR 1283/8199, Pasteur Institute of Lille, EGID, Lille, France
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Amira Mohamed
Amira Mohamed
Laboratory of Molecular Biology, Hospital La Conception, APHM, Marseille, France
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Marc Klein
Marc Klein
Service Endocrinologie, CHU de Nancy, Hôpital de Brabois, Vandoeuvre-lès-Nancy, France
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Marie-Françoise Odou
Marie-Françoise Odou
CHU Lille, Service de Biochimie et Biologie Moléculaire ‘Hormonologie, Métabolisme-Nutrition, Oncologie’, Lille, France
Univ. Lille, Inserm, CHU Lille, U1286 – Infinite – Institute for Translational Research in Inflammation, Lille, France
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Univ. Lille, Inserm, CHU Lille, U1286 – Infinite – Institute for Translational Research in Inflammation, Lille, France
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Antoine Tabarin
Antoine Tabarin
Service d’Endocrinologie, Centre Hospitalier Universitaire, Hôpital du Haut Levêque, Pessac, France
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Hedia Brixi
Hedia Brixi
Department of Gastroenterology and Digestive Oncology, Reims University Hospital, Reims, France
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Thomas Cuny
Thomas Cuny
Aix Marseille Univ, APHM, INSERM, MMG, Department of Endocrinology, Hospital La Conception, Marseille, France
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Brigitte Delemer
Brigitte Delemer
Endocrinology, Diabetology and Nutrition Unit, University Hospital of Reims, Reims, France
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Anne Barlier
Anne Barlier
Aix Marseille Univ, APHM, INSERM, MMG, Laboratory of Molecular Biology Hospital La Conception, Marseille, France
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Pauline Romanet
Pauline Romanet
Aix Marseille Univ, APHM, INSERM, MMG, Laboratory of Molecular Biology Hospital La Conception, Marseille, France
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Introduction Multiple endocrine neoplasia type 1 (MEN1, OMIM 131100) is an autosomal dominant disease due to mutation in the MEN1 gene, characterized by a broad spectrum of clinical manifestations ( 1 ). The classic clinical triad includes
Maria Mizamtsidi
Maria Mizamtsidi
Department of Endocrinology, Diabetes and Metabolism, Hellenic Red Cross Hospital, Athens, Greece
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Constantinos Nastos
Constantinos Nastos
Second Department of Surgery, Endocrine Surgery Unit, Aretaieion University Hospital, National and Kapodistrian University of Athens, Athens, Greece
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George Mastorakos
George Mastorakos
Unit of Endocrinology, Diabetes and Metabolism, Aretaieion University Hospital, National and Kapodistrian University of Athens, Athens, Greece
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Roberto Dina
Roberto Dina
Department of Pathology, Hammersmith Hospital, Imperial College Healthcare NHS Trust, London, UK
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Ioannis Vassiliou
Ioannis Vassiliou
Second Department of Surgery, Endocrine Surgery Unit, Aretaieion University Hospital, National and Kapodistrian University of Athens, Athens, Greece
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Maria Gazouli
Maria Gazouli
Department of Basic Medical Sciences, Laboratory of Biology, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece
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Fausto Palazzo
Fausto Palazzo
Department of Thyroid and Endocrine Surgery, Imperial College London, London, UK
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, while searching for other features of malignancy ( 34 ). Figure 1 Parathyroid tumorigenesis mechanisms via the cyclins pathway. CCND1 gene, encoding cyclin D1, is upregulated in parathyroid adenomas. MEN1 gene inactivation results in a
Elizaveta Mamedova
Elizaveta Mamedova
Department of Neuroendocrinology and Bone Diseases, Endocrinology Research Center, Moscow, Russian Federation
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Natalya Mokrysheva
Natalya Mokrysheva
Department of Parathyroid Diseases, Endocrinology Research Center, Moscow, Russian Federation
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Evgeny Vasilyev
Evgeny Vasilyev
Department and Laboratory of Inherited Endocrine Disorders, Endocrinology Research Center, Moscow, Russian Federation
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Vasily Petrov
Vasily Petrov
Department and Laboratory of Inherited Endocrine Disorders, Endocrinology Research Center, Moscow, Russian Federation
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Ekaterina Pigarova
Ekaterina Pigarova
Department of Neuroendocrinology and Bone Diseases, Endocrinology Research Center, Moscow, Russian Federation
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Sergey Kuznetsov
Sergey Kuznetsov
Department of Surgery, Endocrinology Research Center, Moscow, Russian Federation
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Nikolay Kuznetsov
Nikolay Kuznetsov
Department of Surgery, Endocrinology Research Center, Moscow, Russian Federation
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Liudmila Rozhinskaya
Liudmila Rozhinskaya
Department of Neuroendocrinology and Bone Diseases, Endocrinology Research Center, Moscow, Russian Federation
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Galina Melnichenko
Galina Melnichenko
I.M. Sechenov First Moscow State Medical University, Moscow, Russian Federation
Institute of Clinical Endocrinology, Endocrinology Research Center, Moscow, Russian Federation
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Institute of Clinical Endocrinology, Endocrinology Research Center, Moscow, Russian Federation
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Ivan Dedov
Ivan Dedov
Endocrinology Research Center, Moscow, Russian Federation
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Anatoly Tiulpakov
Anatoly Tiulpakov
Department and Laboratory of Inherited Endocrine Disorders, Endocrinology Research Center, Moscow, Russian Federation
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the MEN1 gene be performed in all patients with primary hyperparathyroidism under 40 years of age? World Journal of Surgery 2010 34 1294 – 1298 . ( doi:10.1007/s00268-009-0388-5 ) 20058152 10.1007/s00268-009-0388-5 11 Langer P Wild A
Hélène Singeisen
Hélène Singeisen
Department of Internal Medicine, Endocrinology, Cantonal Hospital Thurgau, Münsterlingen, Switzerland
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Mariko Melanie Renzulli
Mariko Melanie Renzulli
Institute of Radiology, Cantonal Hospital Thurgau, Frauenfeld, Switzerland
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Vojtech Pavlicek
Vojtech Pavlicek
Department of Internal Medicine, Endocrinology, Cantonal Hospital Thurgau, Münsterlingen, Switzerland
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Pascal Probst
Pascal Probst
Department of Surgery, Cantonal Hospital Thurgau, Frauenfeld, Switzerland
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Fabian Hauswirth
Fabian Hauswirth
Department of Surgery, Cantonal Hospital Thurgau, Münsterlingen, Switzerland
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Markus K Muller
Markus K Muller
Department of Surgery, Cantonal Hospital Thurgau, Frauenfeld, Switzerland
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Magdalene Adamczyk
Magdalene Adamczyk
Department of Pathology and Molecular Pathology, University Hospital Zurich and University of Zurich, Zurich, Switzerland
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Achim Weber
Achim Weber
Department of Pathology and Molecular Pathology, University Hospital Zurich and University of Zurich, Zurich, Switzerland
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Reto Martin Kaderli
Reto Martin Kaderli
Department of Visceral Surgery and Medicine, Bern University Hospital, University of Bern, Bern, Switzerland
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Pietro Renzulli
Pietro Renzulli
Department of Surgery, Cantonal Hospital Thurgau, Münsterlingen, Switzerland
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MEN1 gene ( 7 , 15 , 16 ). In 2002, Fritz and co-workers first described an autosomal recessive MEN-like syndrome in the rat. Animals exhibiting the mutant phenotype spontaneously developed multiple neuroendocrine malignancies within the first
