吉林大学学报（医学版）2025，Vol.51Issue(2)：471-478,8.DOI:10.13481/j.1671-587X.20250221
常见消化系统肿瘤患者TP53和KRAS基因突变的全外显子杂交捕获基因测序及其临床意义
Sequencing of whole exon hybridization capture genes of TP53 and KRAS mutations in patients with common digestive system tumors and its clinical significance
摘要
Abstract
Objective:To investigate the mutations of TP53 and KRAS genes in the patients with six common types of digestive system tumors,including colorectal cancer(COAD),cholangiocarcinoma(CHOL),gallbladder cancer(GBC),liver hepatocellular carcinoma(LIHC),stomach adenocarcinoma(STAD),and pancreatic adenocarcinoma(PAAD),and to analyze the relationships between TP53 and KRAS gene mutations and clinical pathological characteristics,tumor mutation burden(TMB),and microsatellite instability(MSI)of the patients.Methods:The pathological paraffin or biopsy samples of 112 patients from January 2022 to December 2023 diagnosed with six types of tumors based on imaging and pathology were collected.Hybrid capture-based gene sequencing technology was used to detect TP53 and KRAS gene mutations in the patients with different types of tumors;mutation landscapes of common digestive system tumor samples were constructed.The patients were divided into high and low TMB groups according to the TMB levels.The mutation statuses of TP53 and KRAS genes in the patients with different types of digestive system tumors were compared,and the TP53 and KRAS gene mutations in the patients with different clinicopathological characteristics were examined.Results:A total of 276 mutations were detected in the 112 samples,with the highest mutation rate in TP53 gene(67％),followed by KARS gene(34％).TP53 gene mutation was most prominent in COAD,followed by LIHC,while KRAS gene mutation was most significant in PAAD.TP53 gene mutation mainly occurred in exons 5-8,while the KRAS gene mutation primarily occurred in exon 2.There was no statistically significant difference in TP53 gene mutation rate among the six types of digestive system tumors(P＞0.05),while the KRAS gene mutation rate showed statistically significant difference(P＜0.05).The mutation rates of TP53 and KRAS gene co-mutation also showed statistically significant difference among the six types of tumors(P＜0.05).There were statistically significant differences in TP53 and KRAS gene mutation rates between the patients with high TMB and low TMB(P＜0.05),while there were no statistically significant differences in TP53 and KRAS mutation rates between the patients with different sex,age,tumor size,differentiation degree,TNM stage,lymph node and/or distant metastasis and MSI(P＞0.05).Conclusion:The mutation rates of TP53 and KRAS genes are higher in common digestive system tumors,which are related to tumor types and TMB.关键词
消化系统肿瘤/基因突变/TP53基因/KRAS基因/肿瘤突变负荷/微卫星不稳定性Key words
Digestive system cancer/Gene mutation/TP53 gene/KRAS gene/Tumor mutation burden/Microsatellite instability分类
医药卫生引用本文复制引用
王潇,熊婵玉,张赟,纪娟娟,周玉..常见消化系统肿瘤患者TP53和KRAS基因突变的全外显子杂交捕获基因测序及其临床意义[J].吉林大学学报（医学版）,2025,51(2):471-478,8.基金项目
国家自然科学基金项目(81970825) （81970825）
