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

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 r...

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Detalles Bibliográficos
Autores principales: GHIMPAU, VALENTINA, UNGUREANU, BOGDAN SILVIU, GHEONEA, DAN-IONUT, LUNGULESCU, CRISTINA, LUNGULESCU, CRISTIAN VIRGIL
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medical University Publishing House Craiova 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8679142/
https://www.ncbi.nlm.nih.gov/pubmed/35003780
http://dx.doi.org/10.12865/CHSJ.47.03.18
Descripción
Sumario: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.

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