Multiple endocrine neoplasia type 1: extensive analysis of a large database of Florentine patients.

ABSTRACT:

Background

Multiple endocrine neoplasia (MEN1) is a rare inherited multi-tumour syndrome, affecting specific neuroendocrine organs and non-endocrine tissues with a variable spectrum of over 20 possible different combinations, caused by inactivating heterozygote mutations of the MEN1 gene. Disease onset, penetrance, clinical presentation, course and prognosis are all extremely variable, even among individuals bearing the same causative mutation, which doesn't allow prediction of the individual clinical phenotype (based on the specific result of the genetic test), thus compelling all patients and mutation carriers to undergo a common routine general screening program.

Results

We performed an extensive epidemiological, clinical and genetic analysis of the Florentine MEN1 patien

SUBMITTER: Marini F 

PROVIDER: S-EPMC6237029 | biostudies-literature | 2018 Nov

REPOSITORIES: biostudies-literature