Results of a national survey on multiple endocrine neoplasia syndrome type 1 in Italy: a macroaggregate analysis

Falchetti, Alberto and Marini, Francesca and Del Monte, Francesca and Masi, Laura and Carbonell Sala, Silvia and Ghinoi, Valentina and Franceschelli, Francesco and Tanini, Annalisa and Tonelli, Francesco and Brandi, Maria Luisa (2005) Results of a national survey on multiple endocrine neoplasia syndrome type 1 in Italy: a macroaggregate analysis. Clinical cases in mineral and bone metabolism, 2 (1). pp. 29-35. ISSN 1971-3266

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In more than a decade of activity the Italian Register of Multiple Endocrine Neoplasias (RINEM = Registro Italiano delle Neoplasie Endocrine Multiple) made possible to collect both clinical and genetic data on Italian kindreds affected by Multiple Endocrine Neoplasia type 1 (MEN1) syndrome. Until the end of the 80thies no data were available for this syndrome in Italy. The number of cases referred to RINEM has been constantly increasing during the years. Data on 193 subjects, 41 sporadic and 152 familial cases from 44 MEN1 kindreds have been collected in RINEM. In 12 Italian informative MEN1 kindreds linkage analysis was initially performed before the cloning of M E N 1 gene. Thirty-two asymptomatic M E N 1 g e n e carriers have been originally identified and subsequently in 12 of these clinical confirmation within 1 to 3 years from the genetic test have been reported. The RINEM will focus in the future on the preparation of a detailed questionnaire on clinical, genetic and therapeutic approaches to MEN1 in our Country

Item Type: Article
Uncontrolled Keywords: Multiple endocrine neoplasia, clinical management of endocrine tumors, hereditary tumors, genetic diagnosis, antioncogene, MEN
Subjects: 600 Tecnologia - Scienze applicate > 610 Medicina e salute (Classificare qui la tecnologia dei servizi medici) > 616 Malattie (classificare qui la Clinica medica, la medicina basata sull'evidenza, la Medicina interna, la Medicina sperimentale) > 616.7 Malattie del sistema muscoloscheletrico
Depositing User: Danilo Dezzi
Date Deposited: 24 Apr 2014 10:33
Last Modified: 12 Dec 2014 12:19

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