Search Results

You are looking at 1 - 10 of 52 items for :

Clear All
Open access

Luigia Cinque, Angelo Sparaneo, Antonio S Salcuni, Danilo de Martino, Claudia Battista, Francesco Logoluso, Orazio Palumbo, Roberto Cocchi, Evaristo Maiello, Paolo Graziano, Geoffrey N Hendy, David E C Cole, Alfredo Scillitani and Vito Guarnieri

Introduction The multiple endocrine neoplasia type 1 syndrome (MEN1, MIM131100) is primarily characterized by parathyroid, gastro-entero-pancreatic and pituitary tumors ( 1 , 2 ). Less frequently, it is associated with adrenocortical ( 3

Open access

Adrian F Daly, David A Cano, Eva Venegas-Moreno, Patrick Petrossians, Elena Dios, Emilie Castermans, Alvaro Flores-Martínez, Vincent Bours, Albert Beckers and Alfonso Soto-Moreno

) in association with a number of germline genetic mutations. Of these, the aryl hydrocarbon receptor-interacting protein ( AIP ) gene and the MEN1 gene have been widely studied in the clinical setting. Germline MEN1 mutations lead to multiple

Open access

Weixi Wang, Rulai Han, Lei Ye, Jing Xie, Bei Tao, Fukang Sun, Ran Zhuo, Xi Chen, Xiaxing Deng, Cong Ye, Hongyan Zhao and Shu Wang

Introduction Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disease characterized by the presence of endocrine tumors mainly affecting parathyroid, pituitary and pancreatic islet. Adrenal lesions occur in 20–55% of MEN1

Open access

Kate E Lines, Mahsa Javid, Anita A C Reed, Gerard V Walls, Mark Stevenson, Michelle Simon, Kreepa G Kooblall, Sian E Piret, Paul T Christie, Paul J Newey, Ann-Marie Mallon and Rajesh V Thakker

Introduction Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterised by the occurrence of parathyroid, pancreatic islet and anterior pituitary tumours. In addition, some patients may also develop adrenal

Open access

K E Lines, R P Vas Nunes, M Frost, C J Yates, M Stevenson and R V Thakker

Introduction Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder, characterised by the combined occurrence of tumours of the parathyroid glands, and neuroendocrine tumours (NETs) of the pancreatic islets and anterior

Open access

Cristina Lamas, Elena Navarro, Anna Casterás, Paloma Portillo, Victoria Alcázar, María Calatayud, Cristina Álvarez-Escolá, Julia Sastre, Evangelina Boix, Lluis Forga, Almudena Vicente, Josep Oriola, Jordi Mesa and Nuria Valdés

Introduction Multiple endocrine neoplasia type 1 (MEN1) syndrome is a rare hereditary disease, with an estimated prevalence of 0.15–0.30 cases per 1000 in general population ( 1 , 2 ). Primary hyperparathyroidism (PHPT) is its most common

Open access

Elena Pardi, Stefano Mariotti, Natalia S Pellegata, Katiuscia Benfini, Simona Borsari, Federica Saponaro, Liborio Torregrossa, Antonello Cappai, Chiara Satta, Marco Mastinu, Claudio Marcocci and Filomena Cetani

Introduction Multiple endocrine neoplasia type 1 (MEN1, OMIM #131100) is a rare autosomal dominant endocrine disorder characterized by the occurrence of parathyroid adenoma/hyperplasia, duodeno–pancreatic neuroendocrine tumors (NETs), and anterior

Open access

Ruth Therese Casey, Deborah Saunders, Benjamin George Challis, Deborah Pitfield, Heok Cheow, Ashley Shaw and Helen Lisa Simpson

Introduction Multiple endocrine neoplasia type 1 (MEN1) is a hereditary endocrine neoplasia syndrome characterised by autosomal dominant inheritance of mutations in MENIN , a tumour suppressor gene. Patients with MEN1 typically develop

Open access

Dirk-Jan van Beek, Rachel S van Leeuwaarde, Carolina R C Pieterman, Menno R Vriens, Gerlof D Valk and the DutchMEN Study Group

are scarce or the underlying scientific evidence is meager. Multiple endocrine neoplasia type 1 (MEN1) (OMIM 131100) is an autosomal dominant disease with an estimated occurrence rate of 2–3 per 100,000 ( 2 ). Due to the complexity of the disease

Open access

Elizaveta Mamedova, Natalya Mokrysheva, Evgeny Vasilyev, Vasily Petrov, Ekaterina Pigarova, Sergey Kuznetsov, Nikolay Kuznetsov, Liudmila Rozhinskaya, Galina Melnichenko, Ivan Dedov and Anatoly Tiulpakov

symptoms) (reviewed in 3 ). To date, the following familial syndromes associated with PHPT are known: multiple endocrine neoplasia type 1 (MEN1), type 2A (MEN2A), type 4 (MEN4), hyperparathyroidism-jaw tumor syndrome (HPT-JT), familial hypocalciuric