![]() ![]() Pathologic complete response is defined as no residual viable invasive adenocarcinoma cells within the parenchyma in a neoplastic tissue specimen. Moreover, it increases surgical morbidity, consequently delaying the administration of subsequently adjuvant chemotherapy, impacts anorectal, sexual and urinary functions and is related with an increased risk of secondary malignancies, especially in those young patients. However, no clear benefit of radiotherapy in terms of overall survival was demonstrated. With the implementation of total mesorectal excision (TME) surgery and neoadjuvant concurrent chemoradiotherapy, local recurrence rates of LARC have declined from 30 to 50% to less than 10%. Our findings encourage further studies to analyze BRCA mutations in patients with LARC, especially for those patients unable or unwilling to receive radiotherapy. This case indicated an association of BRCA2 mutation with high mutation loads and an excellent response of oxaliplatin-based chemotherapy regimen for LARC. To our knowledge, this is the first report of BRCA2 mutant LARC that demonstrated significant benefit from FOLFOX neoadjuvant treatment. The next-generation sequencing analysis revealed the presence of breast cancer gene 2 (BRCA2) somatic mutation and an increased somatic mutational load without microsatellite instability (MSI). We report a case of a 25-year-old male with LARC treated with neoadjuvant FOLFOX chemotherapy, and experienced a pCR. Patients with locally advanced rectal cancer (LARC) achieving a pathological complete response (pCR) to neoadjuvant treatment usually have a good prognosis, but only accounted for less than 20%. ![]()
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