摘要
Abstract
Objective To explore the relationship between mutant genes and microsatellite stability(MSS)strati-fication in patients with colorectal cancer(CRC).Methods A total of 114 cases of CRC patient were collected,high-throughput seauencing platforms were used to analyze and collect gene mutation status and MSS status of colorectal pa-tients.A binary probability single regression(Probit)prediction model was used to classify and predict the correlation between several high-frequency mutation genes and microsatellite instability(MSI)stratification,Tongyi Lingma(2.0)software was used to convert data into code,while Python(2025 version)software was used to draw stacked bar charts and associated network diagrams.Results A total of 143 types of gene mutations were detected,with the top 6 being APC,TP53,KRAS,MUC16,FBXW7,and PIK3CA genes,with mutation rates of 82.5%,70.2%,49.1%,24.6%,20.2%,and 19.3%,respectively.The proportion of microsatellite instability-high(MSI-H)patients with mucinous tumors was 72.7%(8/11),while the proportion of mucinous adenocarcinoma patients was 63.6%(7/11).Compared with MSS patients,the proportion of mucinous adenocarcinoma patients was 14.6%(15/103),which had significant statistical significance(P<0.001).The binary probability unit regression(Probit)prediction model sug-gested that the significance P value of TP53 was less than 0.05,indicating significance at the horizontal level.The null hypothesis was rejected,and it would have a significant impact on MSI stratification.Specifically,for every addi-tional unit of TP53,the probability of MSI stratification being MSS increased or decreased by 29.458%compared to MSI-H.Among the top 10 CRC mutation genes,4 showed significant differences in distribution between MSI-H and MSS CRC patients,namely TP53(P<0.001),MUC16(P=0.002),PIK3CA(P=0.001),and APC(P=0.030).No significant differences were found in the other genes.Conclusion The high proportion of MUC16 gene mutations and FGFR1/3 gene amplification in 114 cases of colorectal cancer may be related to the high proportion of mucinous adenocarcinoma in the study samples,tumor heterogeneity,and unclear MSI typing mechanisms,requiring larger sample sizes for validation and further in-depth research.MSI-H type colorectal adenocarcinoma patients are more likely to secrete mucus and have a higher probability of developing mucinous adenocarcinoma.MSS type colorec-tal cancer patients have a higher TP53 gene mutation rate,and MUC16 gene mutations suggest a higher possibility of MSI-H type.MUC16 gene mutations can be combined with dMMR protein testing to assist in determining MSI status.关键词
结直肠癌/微卫星稳定性/突变基因/预测模型/相关性Key words
colorectal cancer/microsatellite stability/mutated gene/predictive model/correlation分类
医药卫生
