结直肠癌RAS、BRAF基因状态与临床病理特征的关系

目的分析中国人群结直肠癌患者中KRAS、NRAS及BRAF基因突变状态与临床病理特征之间的关系。方法回顾性分析2018年1月—2020年11月于福建省肿瘤医院接受治疗的370例结直肠癌患者的肿瘤组织标本,检测KRAS、NRAS、BRAF基因突变状态及MMR蛋白表达状态,分析基因突变状态与结直肠癌临床病理特征的关系。结果370例患者中存在KRAS基因突变155例(41.9%),NRAS基因突变19例(5.1%),BRAF基因突变40例(10.8%),其中1例患者突变类型为G469V,其他均为V600E突变。KRAS基因在女性、高中分化患者中突变率高(P<0.05)。NRAS基因突变多见于低分化、浸润型患者(P<0.05)。BRAF V600E突变在右半结肠癌、年龄小于50岁、低分化、浸润型、淋巴结及远处转移患者中的突变率高(P<0.05)。结论KRAS基因突变与性别、分化程度有关,NRAS基因突变与分化程度、肿瘤大体分类有关,BRAF基因V600E突变与肿瘤原发部位、年龄、分化程度、肿瘤大体分类、区域淋巴结及远处转移有关。对结直肠癌患者进行KRAS、NRAS及BRAF基因的检测,为了解中国患者热点基因突变分布情况和临床精准诊疗提供理论依据。

Relationship Between RAS,BRAF Gene Status and Clinicopathological Characteristics of Colorectal Cancer

Objective To analyze the relationship between the mutation status of KRAS,NRAS and BRAF gene and clinicopathological characteristics in colorectal cancer patients in Chinese population.Methods The tumor tissue samples of 370 colorectal cancer patients treated in Fujian cancer hospital from January 2018 to November 2020 were retrospectively analyzed.The mutation status of KRAS,NRAS,BRAF and the expression status of MMR protein were detected,and the relationship between the mutation status and the clinicopathological characteristics of colorectal cancer was analyzed.Results Among the 370 patients,there were 155(41.9%)mutations in KRAS gene,19(5.1%)mutations in NRAS gene,and 40(10.8%)mutations in BRAF gene,among which one patient had G469V mutation and the others had V600E mutation.The mutation rate of KRAS gene was higher in female and high school differentiated patients(P<0.05).NRAS gene mutations were more common in poorly differentiated,invasive patients(P<0.05).BRAF V600E mutation has a high mutation rate in patients with right colon cancer,less than 50 years of age,poorly differentiated,invasive,lymph node,and distant metastasis(P<0.05).Conclusion KRAS gene mutation is related to gender and degree of differentiation,NRAS gene mutation is related to degree of differentiation and general classification of tumor,and BRAF gene V600E mutation is related to primary site,age,degree of differentiation,general classification of tumor,regional lymph node and distant metastasis.KRAS,NRAS and BRAF genes were detected in colorectal cancer patients to provide theoretical basis for understanding the distribution of hot gene mutations in Chinese patients and clinical accurate diagnosis and treatment.