Rare BRCA2 Mutation and MSI-H in Male Patient with Aggressive Stage III Colorectal Cancer, Case Report and Literature Review

Valentina Ghimpau; Bogdan Silviu Ungureanu; Dan-Ionut Gheonea; Cristina Lungulescu; Cristian Virgil Lungulescu

doi:10.12865/CHSJ.47.03.18

Rare BRCA2 Mutation and MSI-H in Male Patient with Aggressive Stage III Colorectal Cancer, Case Report and Literature Review

Curr Health Sci J. 2021 Jul-Sep;47(3):451-456. doi: 10.12865/CHSJ.47.03.18. Epub 2021 Sep 30.

Authors

Valentina Ghimpau¹, Bogdan Silviu Ungureanu², Dan-Ionut Gheonea², Cristina Lungulescu¹, Cristian Virgil Lungulescu³

Affiliations

¹ Doctoral School, University of Medicine and Pharmacy of Craiova, Romania.
² Research Center of Gastroenterology and Hepatology, University of Medicine and Pharmacy of Craiova, Romania.
³ Department of Oncology, University of Medicine and Pharmacy of Craiova, Romania.

Abstract

Colorectal cancer is the third most common malignancy worldwide. We report the case of a 66-year-old man diagnosed with stage III B colorectal cancer who underwent radical surgery, adjuvant chemotherapy and subsequently developed hepatic metastases. Two months following metastasectomy, PET-CT scan revealed liver metastases with metabolic activity. The patient was started on FOLFIRI chemotherapy regimen in combination with cetuximab, and achieved stable partial remission 7 weeks after starting the treatment. NGS and IHC testing of the surgically removed tumor revealed MSI-H/dMMR, and NRAS/KRAS wild type status, moderate positive (30%) expression of PD-L1 protein, along with BRCA2 mutation.

Keywords: BRCA2; Colorectal cancer; MSI-H.

Publication types

Case Reports