Relation Between Gene Mutations And Clinicopathological Characteristics In Patients Of Colorectal Cancer

Objective:To explore the relation between gene mutations and clinicopathologic features in patients of colorectal cancer,and to provide reference for diagnosis and treatment of colorectal cancer at the gene level.Methods:Retrospective analysis was performed on 97 patients with primary colorectal cancer who underwent surgical treatment in Cina-Japan Union Hospital of Jilin University from July 2021 to September 2022.All patients had complete postoperative pathological results.Results:1.The clinical data of 97 CRC patients were collected in this study,including 53 males(54.6%)and 44 females(45.4%).Among the 80 cases of colon cancer,the average age is 57.6 years old.28 cases(28.9%)of right colon cancer,69 cases(71.1%)of left colon cancer.2 cases of stageⅠ,37 cases of stage Ⅱ,29 cases of stage Ⅲ,29 cases of stage Ⅳ.There were 15 cases of liver metastasis,14 cases of lung metastasis,and 12 cases of metastasis to other parts of the liver and lung.There were 10 cases of nodules(10.3%),40 cases of vascular thrombus(41.2%),and 21 cases of nerve invasion(21.64%).According to pathological type,72 cases(74.2%)of simple adenocarcinoma and 25 cases(23.8%)of non-simple adenocarcinoma(including adenocarcinoma with mucinous cell carcinoma and/or sigma-ring cell carcinoma and adeno-squamous cell carcinoma)were classified as simple adenocarcinoma.2.Gene mutation rates are listed in order from highest to lowest:TP53(88.7%),APC(80.4%),KRAS(48.5%),PIK3CA(20.6%),MLH1(9.3%),MET(9.3%),MSH2(8.2%),NTRK1(8.2%),FLT1(8.2%),FGFR1(7.2%),EGF R(6.2%),ALK(6.2%),BRCA1(6.2%),BRCA2(6.2%),PTEN(6.2%),FGFR3(6.2%),FLT4(5.2%),KDR(5.2%),KIT(5.2%),NRAS(4.1%),BRAF(4.1%),PDGFRA(4.1%),ERBB2(3.1%),FGFR2(3.1%),RET(3.1%),ROS1(2.1%),NTRK2(1.0%),NT RK3(1.0%),CDKN2A(1.0%).3.There were no mutations in 10 genes:ABCB1,CDA,DPYD,ERCC2,F GFR4,GSTP1,HRAS,MTHFR,TYMS,UGT0A1.4.In the analysis of colorectal cancer related genes and clinicopathologic features:(1)TP53 gene mutation is prone to appear in colorectal cancer with vascular thrombus(x2=3.900,P=0.048).(2)APC gene mutation is prone to appear in adenocarcinoma(x2=4.442,P=0.035).The mutation rate of APC gene in left colon cancer was higher than that in right colon cancer(x2=3.939,P=0.047).(3)KRAS gene mutation is more likely to appear in stage Ⅲ ～ Ⅳ colorectal cancer(x2=5.970,P=0.015)and non-simple adenocarcinoma(x2=5.152,P=0.048).(4)PIK3CA gene mutation is prone to appear in highly differentiated cancers(P=0.041).The mutation rate of PIK3 CA gene in right colon cancer was higher than that in left colon cancer(x2=5.480,P=0.019).(5)There was no significant difference between MLH1 gene and MET gene and pathological characteristics of colorectal cancer.(6)MSH2 gene mutation is prone to appear in distant metastatic colorectal cancer(P=0.007).(7)Microsatellite height instability(MSI-H)was more prevalent in the right half of the colon(x2=8.606,P=0.003).Conclusions:1.The top three genes with mutation rate in colorectal cancer are TP53 gene,APC gene and KRAS gene.2.There were more PIK3 CA gene mutations and MSI-H mutations in right colon cancer patients,and more APC gene mutations in left colon cancer patients.3.Patients with adenocarcinoma as pathological type of colorectal cancer are prone to APC gene mutation;Highly differentiated tumors are prone to mutation of PIK3 CA gene.MSH2 gene mutation is more likely to occur in distant metastasis.Patients with high malignant degree of colorectal cancer are prone to KRAS gene mutation.