基于二代测序检测结直肠癌中PIK3CA基因突变及其与预后的相关性分析  

Detection of PIK3CA gene mutation and its related prognosis in colorectal cancer based on next-generation sequencing

作　　者：彭潇 张鑫[2] 卢宏霞[3] 申璐璐 高宁[4] 昝丽坤[4] Peng Xiao;Zhang Xin;Lu Hongxia;Shen Lulu;Gao Ning;Zan Likun(The Second Clinical School of Shanxi Medical University,Taiyuan 030001,China;Department of Colorectal Surgery,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 Gastroenterology,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 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)

机构地区：[1]山西医科大学第二临床医学院,太原030001 [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结直肠外科,太原030013 [3]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消化内科,太原030013 [4]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

出　　处：《中华病理学杂志》2024年第7期716-721,共6页Chinese Journal of Pathology

基　　金：山西省科技厅基础研究项目面上项目(201801D21308,202303021211232);山西省留学回国人员科技活动择优资助项目([2019]1176);山西省肿瘤医院国家肿瘤区域医疗中心科教培育基金(SD2023018)。

摘　　要：目的探索PIK3CA在结直肠癌中的突变情况,分析PIK3CA与结直肠癌患者临床病理特征的关系,评估PIK3CA在指导临床治疗及预后评估中的价值。方法收集山西省肿瘤医院2018—2021年病理确诊为结直肠癌的石蜡样本128例,从中提取DNA,采用二代测序方法检测PIK3CA突变,回顾性分析其与结直肠癌患者临床病理特征的关系以及对预后的影响。结果128例结直肠癌样本中,男性75例,女性53例;患者年龄为32~86岁,中位年龄为61.5岁;PIK3CA突变的有27例(21.09%)。PIK3CA突变的结直肠癌易发生在男性患者(P=0.007),与肿瘤部位(P=0.032)、肿瘤大小(P=0.029)和TP53野生型(P=0.001)相关,且PIK3CA常见位点突变多出现在肿瘤突变负荷≥10 Muts/Mb的肿瘤中(P=0.031)。生存分析显示,PIK3CA突变对患者的生存预后无显著影响,但该类患者术后加用靶向抗血管生成药物治疗效果较差。结论PIK3CA突变是结直肠癌中较为常见的突变,在结直肠癌的发生发展过程中起到了重要作用。PIK3CA突变可能会导致结直肠癌抗血管生成药物的耐药性产生,但其对患者生存预后的影响还有待进一步研究。Objectives To investigate the mutation of PIK3CA in colorectal cancer and to analyze their clinicopathological features,and evaluate their role in clinical treatment and prognostication.Methods A total of 128 paraffin-embbeded tissue samples of colorectal cancer from Shanxi Cancer Hospital from 2018 to 2021 were collected.DNA was extracted from the samples,and next-generation sequencing(NGS)was used to detect PIK3CA mutation.The relationship between PIK3CA mutation,their clinicopathological features,and prognosis were analyzed.Results Among the 128 colorectal cancer samples,there were 75 males and 53 females;with aged range 32-86 years,median 61.5 years,27(21.09%)had PIK3CA mutations.Colorectal cancer with PIK3CA mutation was more likely to occur in male patients(P=0.007),which was related to tumor site(P=0.032),tumor size(P=0.029)and TP53 wild-type(P=0.001).The common site mutations of PIK3CA mostly occurred in tumors with tumor mutation burden≥10 Muts/Mb(P=0.031).PIK3CA mutation had no significant effect on the survival prognosis of patients,but the efficacy of anti-angiogenic therapy was poor in these patients.Conclusions PIK3CA mutation is a common mutation in colorectal cancer and plays an important role in the occurrence and development of colorectal cancer.PIK3CA mutation may lead to resistance to anti-angiogenic drugs in colorectal cancer,but its impact on survival and prognosis to patients needs further study.

关 键 词：结直肠肿瘤 序列分析 DNA 肿瘤治疗方案 PIK3CA 

分 类 号：R735.3[医药卫生—肿瘤]