CHSJ

Curr Health Sci J, vol. 47, no. 3, 2021

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

[Case Report]

V. GHIMPAU(1), B.S. UNGUREANU(2), D.I. GHEONEA(2), C. LUNGULESCU(1), C.V. LUNGULESCU(3)


(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: Colorectal cancer, BRCA2, MSI-H.



Corresponding: Bogdan Silviu Ungureanu, University of Medicine and Pharmacy of Craiova, Research Center of Gastroenterology and Hepatology, Craiova, 200349, Romania, e-mail: bogdan.ungureanu@umfcv.ro


DOI 10.12865/CHSJ.47.03.18 - Download PDF
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