Department of Oncology, The First Affiliated Hospital of Nanjing Medical University, Nanjing, Jiangsu, China.
Medicine (Baltimore). 2024 Apr 5;103(14):e37693. doi: 10.1097/MD.0000000000037693.
The selection of appropriate treatment modalities based on the presence or absence of mutations in KRAS, NRAS, BRAF, and the microsatellite instability (MSI) status has become a crucial consensus in colorectal cancer (CRC) therapy. However, the distribution pattern of these genetic mutations and the prevalence of MSI status in Chinese stage I-III CRCs remain unclear. We retrospectively analyzed clinicopathological features, mutations in the KRAS, NRAS, and BRAF genes, as well as MSI status of 411 patients with stage I-III CRC who underwent surgery from June 2020 to December 2022 in the First Affiliated Hospital of Nanjing Medical University. The mutation rates of KRAS, NRAS, and BRAF were 48.9%, 2.2%, and 3.2%, respectively, and the microsatellite instability-high rate was 9.5%. KRAS mutation was independently associated with mucinous adenocarcinoma. Multivariate analysis suggested that tumor location and mucinous adenocarcinoma were independently associated with BRAF mutation. Only T stage was associated with NRAS mutations in the univariate analysis. Multivariate analysis revealed that factors such as larger tumor size, tumor location, younger age, and poor differentiation were independently associated with microsatellite instability-high status. The results illustrate the mutation frequencies of KRAS, NRAS, BRAF genes and MSI status in stage I-III CRC from the eastern region of China. These findings further validate the associations between these genes status and various clinicopathological characteristics.
基于 KRAS、NRAS、BRAF 基因突变状态和微卫星不稳定性(MSI)状态,选择合适的治疗方式已成为结直肠癌(CRC)治疗的重要共识。然而,这些基因突变在我国Ⅰ-Ⅲ期 CRC 中的分布模式以及 MSI 状态的流行情况尚不清楚。我们回顾性分析了 2020 年 6 月至 2022 年 12 月南京医科大学第一附属医院 411 例接受手术治疗的Ⅰ-Ⅲ期 CRC 患者的临床病理特征、KRAS、NRAS 和 BRAF 基因的突变情况以及 MSI 状态。KRAS、NRAS 和 BRAF 的突变率分别为 48.9%、2.2%和 3.2%,微卫星不稳定高的比例为 9.5%。KRAS 突变与黏液腺癌独立相关。多变量分析提示肿瘤位置和黏液腺癌与 BRAF 突变独立相关。单因素分析仅提示 T 分期与 NRAS 突变相关。多变量分析显示,肿瘤大小、肿瘤位置、年龄较小和分化程度较差等因素与 MSI 状态高独立相关。这些结果说明了中国东部地区Ⅰ-Ⅲ期 CRC 中 KRAS、NRAS、BRAF 基因的突变频率和 MSI 状态。这些发现进一步验证了这些基因状态与各种临床病理特征之间的关系。