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

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 Countr