Prospective analysis of somatic and germline genetic alterations in patients with ampullary carcinomas.

308Background: Ampullary carcinoma (AC) is a rare gastrointestinal cancer. Germline alterations (GA) in BRCA2 have been identified in patients with AC. Also, potentially targetable somatic alterations (SA) in other genes including ERBB2, and ELF3 have been identified in AC. MSKCC has implemented an opt-in strategy for germline (GT) and somatic genetic testing (ST) for patients with AC. Methods: Patients (pts) with pathologically confirmed AC were consented prospectively for ST using MSK-IMPACT (410 genes). A subset of pts was also consented for GT using MSK-IMPACT (76 genes) under an IRB approved protocol. Clinicopathologic features, treatment history and survival data were collected and analyzed. Results: N = 36 AC pts consented to ST from 9/2016 to 4/2017 of which 19/36 (52.7%) were male. Median age at diagnosis was 63 years, range 35-81. Pathology: 6/36 (16.7%) intestinal subtype, 19/36 (52.7%) pancreaticobiliary subtype, 4/36 (11.1%) mixed type, and 7/36 (19.4%) undifferentiated/other subtypes.29/36 (...