| ?Objective? The aim of this study was to investigate the relationship between the gene and the clinicopathological features by high-throughput gene sequencing in patients with gastrointestinal cancer,and to explore the relationship between the gene sequencing in the development,diagnosis and prognosis of gastrointestinal cancers.?Methods? We retrospectively analyzed 79 cases of gastrointestinal cancer patients,who were treated in Suzhou University First Affiliated Hospital from December 1,2013 to September 30,2016.In the 32 cases of gastric cancer,including 23 males and 9 females;aged from32 to 74 years old,the median age was 61 years old.In the 47 cases of intestinal cancer,including 22 males and 25 females,aged from 27 to 72 years,The median age was 59 years old.The diagnosis of these patients were clear by the pathological examination and were received whole blood high-throughput gene sequencing.Through analyzing the correlation the gene sequencing results and pathological features to study its relationship and clinical significance.?Result?1.In gastric cancer(1)APC gene mutation in the sex and staging were statistically significant(P <0.05).There were 4 cases of APC gene mutation in female patients.The mutation rate was 44.4%,which was significantly higher than the APC gene mutation rate(8.7%)of male patients.The rate of APC gene mutation(41.7%)in patients with stage IV gastric cancer was higher than that in patients with stage III gastric cancer(5.0%).The mutation rate(0.0%)of GSTP1 gene in patients with stage IV gastric cancer was significantly lower than that in stage III gastric cancer(40.0%),the difference was statistically significant(P <0.05).(2)In the clinicopathological features of 20 cases of postoperative patients,the poorly differentiated carcinoma and medium-poorly differentiated carcinoma were closely related to the mutations of HER2 gene,CCEN1 gene,TYMS gene,GSTP1 gene and CYP3D6 gene.The mutation rate above five genes was statistically different(P <0.05).In the medium-poorly differentiated carcinoma,the mutation rate of HER2 gene was 88.9%,the mutation rate of CCEN1 gene was 44.4%,the mutation rate of TYMS gene was 66.7%,the mutation rate of GSTP1 gene was 66.7%.They were higher than that of poorly differentiated carcinoma.The mutation rate(0.0%)of CYP3D6 gene in medium-poorly differentiated carcinoma was significantly lower than that in poorly differentiated carcinoma(45.5%).In addition,postoperative patients with or without tumor thrombus in the postoperative vessel of the UGT1A1 gene and the GSTM1 gene mutation was statistically different(P <0.05).The mutation rate of UGT1A1 gene(100.0%)and the mutation rate of GSTM1 gene(80.0%)were higher in patients with tumor thrombus.(3)TP53 gene and the presence of liver metastases were statistically significant(P <0.05).Mutation rate(100.0%)was higher in patients with liver metastases than in patients without liver metastases(52.0%).(4)The median PFS was 8.8 months,the median OS was 9.0 months of the 32 patients with gastric cancer.The statistical analysis showed that the mutation of APC gene was statistically different(P <0.05)in progression-free survival(PFS),Patients without APC mutations had a longer PFS.But there was no significant difference in the overall survival time(P> 0.05).TP53 gene changes were significantly different in PFS and OS(P <0.05).Patients with no mutations in the TP53 gene had a longer median survival.The other genes in gastric cancer were no significant difference in PFS and OS(P> 0.05).2.In intestinal cancer(1)The difference between APC gene mutation and sex was statistically significant(P <0.05).he mutation rate of APC gene in male intestinal cancer patients was 72.7%,which was significantly higher than that in female patients(32.0%).The mutation rates of HRAS gene,XRCC1 gene and TYMS gene were correlated with pathologic type(P <0.05).HRAS gene in adenocarcinoma gene mutation rate was 97.7%,compared with non-adenocarcinoma,the gene mutation rate is high.The mutation rates of XRCC1 and TYMS genes were 23.2% and 20.9% in patients with adenocarcinoma,respectively,which were significantly lower than those in nonadenocarcinoma patients.In addition,FAT1 gene,ERCC2 gene,CHEK2 gene and pathological stage difference was statistically significant(P <0.05).The mutation rates of these three genes in stage I-II colon cancer were 44.4%,55.6% and 33.3%,respectively.higher than that the mutation rate(2.6%,15.8%,2.6%)of stage III-IV.In addition,FAT1 gene and ERCC2 gene mutation were also statistically different(P <0.05).The mutation rate of right colon cancer gene was 33.3% and 50.0%,respectively,which was significantly higher than that of left colon cancer gene mutation rate of 2.9% and 14.3%.(2)In the 26 cases of postoperative intestinal cancer patients,The difference of CDK12 gene and BMPR1 A gene in T stage was statistically significant(P <0.05).The mutation rate of T2 gene was 50.0% in patients with intestinal cancer,which was higher than that in T3 and T4.The postoperative patients with or without tumor thrombus in the postoperative vessel of the MLH1 gene mutation was statistically different(P <0.05).The rate of gene mutation(75.0%)was higherin patients with tumor thrombus.ERCC2 gene and FAT1 gene mutation in the N stage of the difference was statistically significant(P <0.05).These genes mutation rates in the N0 stage were 50.0% and 40.0%,which were higher than N1,N2 stage.BLM gene and DPYD gene mutation in intestinal cancer differentiation was statistically significant(P <0.05).The rates of genes mutation in poorly differentiated and moderate-poorly differentiated carcinoma was 33.3% and 55.6%,respectively,which were higher than those in medium differentiated carcinoma.(3)AMER1 gene and ERCC2 gene were significantly different in lung metastasis(P <0.05).The mutation rate of AMER1 gene was 37.5% and the mutation rate of ERCC2 gene was 62.5% in patients with lung metastasis,which was higher than that in patients without lung metastasis.There was significant difference between XRCC1 gene and UGT1A1 gene in liver metastasis(P <0.05).The mutation rate of XRCC1 gene and UGT1A1 gene was 50.0% and 56.3% in patients with liver metastasis,which was significantly higher than that in patients without liver metastasis(P <0.05).(4)The median PFS of 47 patients with intestinal cancer was 10.5 months and OS was 11.3 months.The results showed that the mutations of KRAS gene in PFS and OS intestinal cancer patients were statistically different(P<0.05).Patients with no mutation KRAS gene had a longer median survival.And found that GSTM1 gene and NQO1 gene mutation in intestinal cancer patients with OS were statistically different(P<0.05).The two genes had no mutations in patients with longer OS.The other genes in intestinal cancer were no significant difference in PFS and OS(P> 0.05).?Conclusion?1.In gastric cancer,The mutation of APC gene,GSTP1 gene,HER2 gene,CCEN1 gene,TYMS gene,GSTP1 gene,CYP3D6 gene,UGT1A1 gene and GSTM1 gene were correlated with sex,staging,differentiation,distant metastasis of clinical and pathological characteristics.The median survival time was longer in patients without mutation in APC gene and TP53 genes.2.In intestinal cancer,the mutation of APC gene,HRAS gene,XRCC1 gene and TYMS gene,FAT1 gene,ERCC2 gene,CHEK2 gene,CDK12 gene,BMPR1 A gene,BLM gene,DPYD gene,AMER1 gene,UGT1A1 gene were significantly correlated with pathological type,location,differentiation,risk factors,distant metastasis of clinical and pathological characteristics.The median survival time was longer in patients without mutation in KRAS gene,GSTM1 gene and NQO1 gene.Through the high-throughput gene sequencing,it is found that gene mutation is closely related to the clinicopathological features and survival of gastrointestinal neoplasms,which is helpful to understand the gene status of patients and may provide new guidance and methods for targeted therapy. |
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