Detection of somatic mutations in fine needle aspirates of pancreatic cancer with next-generation sequencing.

Abstract

e15225 Background: Fine needle aspiration (FNA) is a common method of diagnosis of advanced stage pancreatic cancer, yet has traditionally been considered inadequate for molecular studies due to the small number of cells removed from the patient. Methods: To determine the extent to which FNAs can be sequenced we performed limiting dilution studies by mixing the human cancer cell line Panc1 with normal fibroblasts and found that mutations present at allele frequencies as low as 0.1% can be detected. In patients with resected pancreatic cancer, sequencing of FNAs taken postoperatively from the resected tissues correctly identified all driver genes present in the carcinoma. Based on these results we sequenced the normal blood and FNAs of 20 patients obtained in the course of diagnosis for an unresectable pancreatic mass. Results: We identified at least one driver gene mutation in the FNAs of 17 of 20 patients including actionable mutations in ATM and MTOR. For one patient with a wild type KRAS gene we also f...