[Multiple endocrine neoplasia type I].
Multiple endocrine neoplasia type I (MEN1) is a rare hereditary cancer syndrome, which is manifested as a variety of endocrine and non-endocrine tumours and lesions caused by specific germline mutations of the MEN1 gene, a tumour suppressor gene. The detection of these germline mutations allows the early identification of affected, possibly still asymptomatic patients. The combined use of genetic and clinical tools for the diagnosis of MEN1-associated tumours substantially improves both the course of the disease and the quality of life of affected patients. This review summarizes the relevant morphological and clinical features of MEN1-associated endocrine and non-endocrine neoplasms and lesions.
Koncz
E
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Institut für Pathologie und Neuropathologie, Universitätsklinikum Essen, Universität Duisburg-Essen, Hufelandstr. 55, 45122, Essen.
Schmid
K W
KW
D000310:Adrenal Gland Neoplasms / Q000235:genetics / Q000473:pathology; D002283:Carcinoma, Bronchogenic / Q000235:genetics / Q000473:pathology; D018095:Germ-Line Mutation; D006801:Humans; D018761:Multiple Endocrine Neoplasia Type 1 / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000473:pathology*; D015995:Prevalence