Abstract
ABSTRACT A total of 264 pancreatic endocrine tumors (PanNETs) have been studied. A discovery set of 37 cases was subjected to exome sequencing that revealed recurrent mutations in a number of known and previously unidentified genes including ARID1A (2.5%), ATM (5.5%), ATRX (12%), DAXX (20%), MEN1 (35%), MTOR (2.7%), PTEN (8%), TSC2 (5.5%), and TAF1 (3.8%). A prevalence screen was performed on a series of 227 PanNETs from different institutions using targetted next-generation sequencing for these genes using Ion Torrent technology. A series of 90 samples were further analyzed by SNP array to investigate presence of copy number alterations and by immunohistochemistry for Atrx, Daxx, Menin, Pten, and Atm. ATRX, DAXX and PTEN mutations clustered in a group of samples (50%) showing a set of recurrent chromosome losses (RCL). This RCL group showed an increased (+59%) overall mutation rate, correlated with the presence of MEN1 mutations (P 60% of patients via somatic mutation (50%), germline mutation (5%), and chromothripsis of 11q13. CNV analysis separated the cohort into three classes that are currently under investigation. Disclosure: A. Scarpa: I declare the following potential conflicts of interest: Novartis unrestricted grant for molecular alterations of pancreas endocrine neoplasia.
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