ĐẶC ĐIỂM LÂM SÀNG, CẬN LÂM SÀNG VÀ ĐỘT BIẾN GEN Ở NGƯỜI BỆNH UNG THƯ ĐẠI TRỰC TRÀNG ĐIỀU TRỊ TẠI BỆNH VIỆN ĐẠI HỌC Y HÀ NỘI

Abstract

Introduction: Colorectal cancer (CRC) is one of the most common malignancies worldwide, with increasing incidence and mortality rates. Understanding the clinical, subclinical, and genetic mutation characteristics of CRC is crucial for optimizing diagnostic and therapeutic strategies. Objectives: To describe the clinical and subclinical characteristics of colorectal cancer patients and to investigate the correlation between genetic mutations and certain subclinical features. Subjects and Methods: A retrospective and prospective cross-sectional study was conducted on 210 CRC patients treated, who had available genetic testing results. Results: Abdominal pain and hematochezia were the most common clinical symptoms. The most frequently observed endoscopic tumor location was the rectum, with the most common macroscopic morphology being an exophytic growth pattern, and the majority of tumors were moderately differentiated (85%). Elevated CEA and CA 19-9 levels were found in a significant proportion of cases (67% and 40%, respectively). KRAS mutations were the most prevalent (40-50%), followed by BRAF (8.3%), with additional low-frequency mutations detected in PIK3CA (5%), TP53 (3.3%), APC (3.3%), NRAS, and PTEN. A statistically significant correlation was observed between gene mutations and tumor location, whereas the relationship between genetic mutations and other clinicopathological characteristics remains inconclusive. Conclusions: The integration of clinical, subclinical, and comprehensive molecular profiling of colorectal tumors using next-generation sequencing technology provides valuable insights into the genetic landscape of colorectal cancer, supporting personalized treatment approaches.