肿瘤预防与治疗2025，Vol.38Issue(1)：27-32,6.DOI:10.3969/j.issn.1674-0904.2025.01.004
肿瘤突变负荷与微卫星不稳定性在不同癌种中的分布模式研究
Tumor Mutational Burden and Microsatellite Instability Distribution in Different Cancer Types
摘要
Abstract
Objective:Tumor mutational burden(TMB)and microsatellite instability(MSI)are emerging tumor biomar-kers for immunotherapy.This study aims to delineate the distribution of TMB and MSI across different tumor types,providing data supporting clinical immunotherapy.Methods:This study included 559 patients with various tumor types,and collected clinical information such as sex,age,diagnosis,TNM stage and pathological classification.Targeted sequencing of 1,021 tumor-related genes was performed using the Gene+Seq-2000 sequencer to calculate TMB values for patients and assess their MSI status.Results:The results of the study showed that male patients had significantly higher TMB values than female pa-tients(3.84 vs 2.88,P＜0.001).Patients older than 60 years had higher TMB values than those younger or equal to 60 years(3.84 vs 2.88,P＜0.001).The differences in the distribution of TMB values by site and TNM stage were statistically significant(P＜0.001).The proportions of high TMB(TMB-H)(35.07％)and high MSI(MSI-H)(9.70％)were significantly higher in gastrointestinal tumor patients than in patients with other tumor types,with the highest in colorectal cancer patients(45.16％for TMB-H,12.90％for MSI-H).The proportion of TMB-H was significantly higher in patients with lung squamous cell carcinoma than those with lung adenocarcinoma(76.19％vs 11.28％,P＜0.001).In addition,all MSI-H patients showed TMB-H,and colorectal cancer patients showed the highest proportions of both TMB-H and MSI-H.Conclusion:TMB values were higher in male pa-tients.The high proportions of TMB-H and MSI-H in patients with digestive tract tumors and the high proportion of TMB-H in patients with lung squamous cell carcinoma are indicators of interest in tumor immunotherapy.关键词
肿瘤突变负荷/微卫星稳定/恶性肿瘤/免疫治疗/分布情况Key words
Tumor mutational burden/Microsatellite stability/Malignant tumor/Immunotherapy/Distribution分类
医药卫生引用本文复制引用
温阳,罗昕怡,陈豪,宋佳佳,周娟,宋兴勃..肿瘤突变负荷与微卫星不稳定性在不同癌种中的分布模式研究[J].肿瘤预防与治疗,2025,38(1):27-32,6.基金项目
This study was supported by Natural Science Foundation of Sichuan Province(No.2023NSFSC0716). 四川省自然科学基金(编号:2023NSFSC-0716) （No.2023NSFSC0716）
