BRCA-мутированный рак поджелудочной железы. Клинические случаи

Abstract

Pancreatic cancer (PC) is the seventh leading cause of cancer death in both men and women worldwide. Over the past decades the incidence has been growing rapidly Mutations in BRCA1 or BRCA2 are associated with an increased risk of developing PC compared with the normal population by 2,7-4,1 times and 3,5-5,8 times respectively. The results of determining the expression of PD-L1 indicate that the use of immunotherapy may be effective in this case. Supposed that the main direction of treatment BRCA-mutated PC is combination of PARP-inhibitors with immune-checkpoint inhibitors. Two clinical cases of patients with BRCA-mutated PC, which were identified in Republican Clinical Oncology Dispensary of Ministry of Healthcare of Tatarstan Republic named after prof. M.Z. Sigal, are described in this article. In both clinical cases, there is an association between the detection of a BRCA mutation in a patient and the presence of breast cancer family history. The tumor of one patient is characterized by MSI-H, which correlates with worldwide data about high immunogenicity of BRCA-mutated tumors. According to updated recommendations from the American Society of Clinical Oncology all patients diagnosed with PC should be tested for BRCA mutation despite their age and family history. We believe this approach will help to identify real incidence of BRCA mutation in our population and find patients, who may potentially benefit from the use of PARP inhibitors.