Role of disease-causing genes in sporadic pancreatic endocrine tumors: MEN1 and VHL.

摘要: Pancreatic endocrine tumors (PETs) occur in association with multiple neoplasia type 1 (MEN1) and von Hippel-Lindau (VHL) syndromes caused by germline alterations MEN1 VHL, respectively. It is thus expected that these genes will also be altered a proportion of sporadic PETs. Indeed, about 25% nonfamilial PETs, although no mutations have been found VHL. For all clinical subtypes, the frequency allelic loss on chromosome arm 11q mirrors observed mutational frequencies, exception nonfunctional (NF-PETs), which reported only 8% cases. As most frequent event neoplasms, this low somewhat puzzling, particularly light fact MEN1-associated PETs are nonfunctioning. To clarify role we analyzed 31 NF-PETs, nine insulinomas, one VIPoma for somatic were eight (26%) NF insulinoma, it would therefore appear unlikely an additional tumor suppressor gene related to PET pathogenesis located 11q. One insulinoma had mutation may albeit small