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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