基因表达与直肠癌免疫治疗效果的关系

Relationship Between Gene Expression and the Effect of Immunotherapy in Rectal Cancer

目的探讨基因表达与直肠癌免疫治疗效果的联系。方法回顾性分析2015年1月至2021年10月郑州大学第一附属医院收治的102例直肠恶性肿瘤患者。患者均接受基于二代测序(NGS)法的基因检测且至少接受2周期的抗程序性死亡蛋白1(PD-1)免疫治疗,按各项基因的表达情况将患者分为两组。研究的主要终点为中位无进展生存期(PFS),次要终点为客观缓解率(ORR)及临床获益率(CBR),探讨各项基因表达差异及临床意义。结果治疗后,高肿瘤突变负荷(TMB)组患者中位PFS为5个月,低TMB组患者中位PFS为3个月,高TMB组中位PFS长于低TMB组(P<0.05);高TMB组CBR高于低TMB组(P<0.05);但两组ORR差异无统计学意义(P>0.05);突变基因结果显示K-RAS、SMAD4、TP53、APC、MYC基因突变与否和直肠癌免疫治疗预后无关(P>0.05)。结论相比于接受免疫治疗的直肠癌低TMB患者,高TMB患者呈现出更长的PFS和更高的CBR。

Objective To explore the correlation between the gene expression and the effect of immunotherapy for rectal cancer.Methods Analyzing 102 patients with rectal cancers treated in the First Affiliated Hospital of Zhengzhou University from January 2015 to October 2021 retrospectively.All patients received panel genetic detection based on next generation sequencing(NGS)method and received at least 2 cycles of anti-programmed cell death protein(PD-1)immunotherapy.The patients were divided into two groups according to the expression of various genes.The primary endpoint of the study was median progression free survival(PFS),and the secondary endpoints were objective response rate(ORR)and clinical benefit rate(CBR).The differences in gene expression and their clinical significance were explored.Results After treatment,the median PFS of high TMB group was five months,and the low TMB group was three months,and the median PFS in the high TMB group was longer than that in the low TMB group(P<0.05).The CBR of the high TMB group was higher than that of the low TMB group(P<0.05).However,there was no statistical difference in ORR between the two groups(P>0.05).Mutation gene results showed that the mutations of K-RAS,SMAD4,TP53,APC and MYC genes were not related to the prognosis of immunotherapy in rectal cancer(P>0.05).Conclusion Patients with high TMB exhibited longer PFS and higher CBR than patients with low TMB in rectal cancer receiving immunotherapy.