RAS和BRAF V600E基因突变与结直肠癌临床病理特征的相关性  

Correlation between RAS and BRAF V600E gene mutations and clinicopathological characteristics of colorectal cancer

作　　者：薄云峰[1] 徐恩伟[1] 高宁[1] 郗彦凤[1] 田蓉蓉[2] Bo Yunfeng;Xu Enwei;Gao Ning;Xi Yanfeng;Tian Rongrong(Department of Pathology,Shanxi Province Cancer Hospital,Shanxi Hospital Affiliated to Cancer Hospital,Chinese Academy of Medical Sciences,Cancer Hospital Affiliated to Shanxi Medical University,Taiyuan 030013,China;Department of PET/CT center,Shanxi Province Cancer Hospital,Shanxi Hospital Affiliated to Cancer Hospital,Chinese Academy of Medical Sciences,Cancer Hospital Affiliated to Shanxi Medical University,Taiyuan 030013,China)

机构地区：[1]山西省肿瘤医院中国医学科学院肿瘤医院山西医院山西医科大学附属肿瘤医院病理科,太原030013 [2]山西省肿瘤医院中国医学科学院肿瘤医院山西医院山西医科大学附属肿瘤医院PET/CT中心,太原030013

出　　处：《肿瘤研究与临床》2022年第8期591-595,共5页Cancer Research and Clinic

摘　　要：目的探讨结直肠癌患者KRAS、NRAS、BRAF V600E基因突变与临床病理特征的相关性。方法选取山西省肿瘤医院2020年1月至2021年12月手术切除并经病理证实为结直肠癌217例患者标本, 回顾性分析患者临床资料。采用直接测序法检测手术切除组织的石蜡标本中KRAS、NRAS、BRAF V600E基因突变情况。比较不同临床病理特征患者的KRAS、NRAS、BRAF V600E突变率。结果 217例结直肠癌患者中KRAS、NRAS、BRAF V600E基因突变率分别为48.4%(105/217)、4.1%(9/217)、3.7%(8/217), 其中1例(0.5%)患者同时存在KRAS和NRAS突变。NRAS基因突变与性别、年龄、肿瘤大小、肿瘤部位、病理类型、分化程度、浸润深度、淋巴结转移、远处转移、TNM分期、血管瘤栓/神经侵犯均无相关性(均P>0.05);年龄≥60岁患者KRAS基因突变率高于<60岁患者[55.3%(63/114)比40.8%(42/103), χ2=4.55, P=0.033], KRAS基因突变与其他临床病理特征均无相关性(均P>0.05);伴远处转移的患者BRAF V600E基因突变率高于无远处转移患者[16.7%(4/24)比2.1%(4/193), P=0.006], BRAF V600E基因突变与其他临床病理特征均无相关性(均P>0.05)。结论结直肠癌患者年龄大可能易发生KRAS基因突变, 伴远处转移者BRAF V600E基因突变率较高, NRAS基因突变与临床病理特征无相关性。Objective To investigate the correlation between KRAS,NRAS and BRAF V600E gene mutations and the clinicopathological characteristics of patients with colorectal cancer.Methods Specimens from 217 patients with colorectal cancer who underwent surgical resection and were pathologically confirmed in Shanxi Province Cancer Hospital from January 2020 to December 2021 were selected,and the clinical data of the patients were retrospectively analyzed.The mutation status of KRAS,NRAS and BRAF V600E genes were detected in the paraffin specimens of surgically-resected tissues by direct sequencing.The mutation rates of KRAS,NRAS and BRAF V600E were compared among patients with different clinicopathological characteristics.Results The mutation rates of KRAS,NRAS and BRAF V600E in 217 patients with colorectal cancer were 48.4%(105/217),4.1%(9/217)and 3.7%(8/217),of which 1 patient(0.5%)had both KRAS and NRAS mutations.NRAS gene mutation was not correlated with gender,age,tumor size,tumor location,pathological type,degree of differentiation,depth of invasion,lymph node metastasis,distant metastasis,TNM stage,hemangioma thrombus/nerve invasion(all P>0.05);KRAS mutation rate in patients≥60 year old was higher than that in patients<60 year old[55.3%(63/114)vs.40.8%(42/103),χ^(2)=4.55,P=0.033),and there was no correlation between KRAS gene mutation and other clinicopathological features(all P>0.05);the mutation rate of BRAF V600E gene in colorectal cancerpatients with distant metastasis was higher than that in patients without distant metastasis[16.7%(4/24)vs.2.1%(4/193),P=0.006],and there was no correlation between BRAF V600E gene mutation and other clinicopathological features(all P>0.05).Conclusions Older colorectal cancer patients may be prone to KRAS gene mutation,and the BRAF V600E gene mutation rate is higher in patients with distant metastasis,and there is no correlation between NRAS gene mutation and clinicopathological characteristics.

关 键 词：结直肠肿瘤 基因 RAS 原癌基因蛋白质B-raf 突变 病理状态 体征和症状 

分 类 号：R735.34[医药卫生—肿瘤]