膵臓疾患と治療
オープンアクセス

概要

Pancreatic Ductal Adenocarcinoma Harboring Germline BRCA 2 Mutation, A Case Report and Review of The Literature

Lemstrova Radmila, Melichar Bohuslav, Mohelnikova-Duchonova Beatrice

Introduction: Despite recent advances in the diagnosis and treatment of pancreatic ductal adenocarcinoma (PDAC) the prognosis of this tumor remains dismal. It is estimated that 5-10% of all PDAC patients harbor a germline BRCA-1 or BRCA-2 mutation. There is some evidence that BRCA-mutated PDAC cases respond to chemotherapy regimens based on platinum derivate and cross linking agents. Case report: Here we present a case of metastatic PDAC in a 41-year-old BRCA2 germline mutation carrier. The patient had a favorable response to systemic treatment, including a partial response even to the third line cisplatin monotherapy administered with palliative intent. Discussion: PDAC associated with BRCA mutation represents a special disease entity. Platinum derivates and cross linking agents should be considered even in the advanced palliative setting in these patients.