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Tirtha K Das and Ross L Cagan

Introduction Twenty-five years after the seminal work linking oncogenic RET and multiple endocrine neoplasia type 2 (MEN2), the field has advanced well beyond what Donis-Keller and coworkers ( 1993 ) imagined. We now have a deeper

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A A Pannett and R V Thakker

Combined clinical and laboratory investigations of multiple endocrine neoplasia type 1 (MEN1) have resulted in an increased understanding of this disorder which may be inherited as an autosomal dominant condition. Defining the features of each disease manifestation in MEN1 has improved patient management and treatment, and has also facilitated a screening protocol to be instituted. The application of the techniques of molecular biology has enabled the identification of the gene causing MEN1 and the detection of mutations in patients. The function of the protein encoded by the MEN1 gene has been shown to be in the regulation of JunD-mediated transcription but much still remains to be elucidated. However, these recent advances provide for the identification of mutant MEN1 gene carriers who are at a high risk of developing this disorder and thus require regular and biochemical screening to detect the development of endocrine tumours.

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Joanna Grey and Kym Winter

Introduction Multiple endocrine neoplasia type 2 (MEN2) refers collectively to 2 main distinct types of autosomal dominantly inherited neuroendocrine tumour (NET) syndromes ( Barakat et al. 2004 ); MEN type 2A and MEN type 2B (also known as

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Xiao-Hua Jiang, Jie-Li Lu, Bin Cui, Yong-Ju Zhao, Wei-qing Wang, Jian-Min Liu, Wen-Qiang Fang, Ya-Nan Cao, Yan Ge, Chang-xian Zhang, Huguette Casse, Xiao-Ying Li, and Guang Ning

Introduction Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant inherited disorder characterized by frequent occurrence of tumours of parathyroid, pancreatic islet and anterior pituitary, sometimes in combination with other rare

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Iván Plaza-Menacho

remarkable example illustrating how genetic alterations within a single gene have such profound biological and clinical consequences in human disease. Perturbation of RET signaling by both gain- or loss-of-function mutations cause multiple endocrine neoplasia

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Elizabeth Grubbs, Daniel Halperin, Steven G Waguespack, and Robert F Gagel

Overview The multiple endocrine neoplasia syndromes are a varied group of disorders that include multiple endocrine neoplasia types 1 and 2 (MEN 1, MEN 2), von Hippel-Lindau (VHL) disease , Carney complex (CC), hereditary pheochromocytoma

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Andreas Machens and Henning Dralle

seminal description ( Sipple 1961 ). It is now commonly referred to as multiple endocrine neoplasia type 2 or MEN2, especially when complemented by primary hyperparathyroidism. This achievement was brought about by a combination of astute clinical

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A Falchetti and M L Brandi

Multiple Endocrine Neoplasias type 1 (MEN 1) and type 2 (MEN 2) represent complex inherited (autosomal dominant traits) syndromes characterized by occurrence of distinct proliferative disorders of endocrine tissues, varying from hyperplasia to adenoma and carcinoma.

MEN 1 syndrome is characterized by parathyroid gland, anterior pituitary and endocrine pancreas tumors. Other endocrine and non endocrine tumors, such as carcinoids, lipomas, pinealomas, adrenocortical and thyroid follicular tumors, have been also described in MEN 1 patients occurring at higher frequency than in general population (Brandi ML et al. 1987). Recently also a spinal ependymoma has been found in a patient with MEN 1 syndrome (Kato H et al 1997)

MEN 2 syndromes recognize three main clinical entities, MEN 2A, characterized by medullary thyroid carcinoma (MTC), primary hyperparathyroidism (PHPT) and pheochromocytoma (PHEO); MEN 2B that exhibits MTC, usually developing sooner than the MEN 2A- associated one, pheochromocytoma, multiple neuromas of gastroenteric mucosa, myelinated corneal nerves (Gorlin RJ et al. 1968) and a typical marphanoid habitus; and familial medullary thyroid carcinoma only (FMTC) featuring by families with at least four members with MTC and no objective evidence of pheochromocytoma and parathyroid disease on screening of affected and at-risk members, as stated by the International RET Mutation Consortium (Larsson C et al. 1994).


This work was supported by grants of the Associazione Italiana per la Ricerca sul Cancro (to MLB), from CNR/PF ACRO (INV. 95.00316 PF 39) and by MURST 60% (to MLB).

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C R C Pieterman, E B Conemans, K M A Dreijerink, J M de Laat, H Th M Timmers, M R Vriens, and G D Valk

Introduction Thoracic and duodenopancreatic neuroendocrine tumors (dpNETs) can occur either sporadically or as a manifestation of an inherited syndrome, most importantly the multiple endocrine neoplasia type 1 (MEN1) syndrome. This is an autosomal

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Maria Domenica Castellone and Rosa Marina Melillo

(about 75% of cases) or familial (about 25% of cases) form. Hereditary MTC occurs in the context of different autosomal dominant syndromes, including multiple endocrine neoplasia type 2 (MEN2). MTC can be the only manifestation in familial MTC (FMTC), can