S6159 BRCA-Associated Ampullary Adenocarcinoma: Expanding the Spectrum of BRCA-Linked Tumors

Introduction: BRCA mutations are found in ∼2% of hereditary pancreatic cancers, but links to hepatocellular or small bowel cancers are rare. Ampullary tumors, especially in the duodenum, are uncommon and often carry poor prognoses. We present a case of young BRCA2+ patient diagnosed with ampullary adenocarcinoma. Case Description/Methods: A 31-year-old African American woman with a known BRCA 2 mutation presented with 3 weeks of painless jaundice, acholic stools, nausea, pruritus, and 45-lb weight loss over 6 months. She had undergone BRCA testing at age 23 due to a family history of breast cancer. Labs showed cholestatic liver injury with AST 173, ALT 298, ALP 1048, total bilirubin 6.5, Direct bilirubin 4.8. Serologies for viral hepatitis, ANA, mitochondrial antibodies, smooth muscle antibodies, total IgG were all normal. A contrasted computed tomography abdomen showed a dilated common bile duct (12 mm) and pancreatic duct dilation (7 mm) with pancreatic divisum. CA19-9 and CEA were elevated to 103 and 81.5 respectively. Upper endoscopic ultrasound showed 23 × 20 mm hypoechoic ampullary mass with fine needle aspiration showing mucinous adenocarcinoma. Due to failed cannulation of the bile duct, biliary drainage was done with endoscopic ultrasound-guided rendezvous endoscopic retrograde cholangiopancreatography, and a biliary stent was placed. Genetic testing of the mass revealed BRCA2L698fs*32, KRAS Q61R, and PD-L1. No metastases were seen in imaging. She underwent elective robotic pancreaticoduodenectomy with dissection of lymph nodes around the hepatic artery and portal vein; pathology showed mucinous type of ampullary adenocarcinoma with nodal metastasis. She underwent adjuvant FOLFIRINOX and remains in remission at 8 months follow-up. Discussion: Patients with BRCA 2 mutations have a 5–10% lifetime risk of pancreatic cancer, where incidence of duodenal cancers in BRCA involvement remains unclear. Only 2 prior BRCA2-related ampullary adenocarcinoma cases have been reported, with both patients being in their 40s at the time of diagnosis. We report this case to add to the growing literature of ampullary tumors in BRCA 2 carriers, which may inform screening of these individuals. Our patient did not have any other environmental risk factors for ampullary adenocarcinoma such as advanced age, man gender or smoking; therefore, we attribute her development of ampullary adenocarcinoma to her BRCA 2 mutation.