Relationship Between The Second Generation Sequencing And Clinicopathological Characteristics Of Colorectal Cancer Patients

Objective:The study aimed to investigate the relationship between gene mutation with the clinical pathological features in colorectal cancer patients.The mutations of TOP1,MLH1,PTEN,ERCC2 and MLH1 were detected by the second generation sequencing method.Methods: The clinicopathological data of 80 patients with colorectal cancer in south area of Jiangsu Province(January 2012 to December 2016)and the second generation sequencing data of tumor tissue and circulating tumor DNA were analyzed.The clinical and pathological data of the 80 patients were collected to compare the clinical and pathological features such as mutation and pathogenesis,TNM stage and recurrence and metastasis.Results: Among the 80 cases of colon cancer,the average age is 57.6 years old,15 cases(18.75%)were left colon and 65 cases(81.25%)were right colon,5 cases of stage?,17 cases of stage ?,22 cases of stage ?,36 cases of stage ?.37 cases of recurrence,including 24 cases of lung metastasis,25 cases of liver metastasis,28 cases of abdominal lymph node metastasis,59 cases of postoperative adjuvant chemotherapy,21 patients were treated with chemotherapy.The average mutation load in the left colon(25 cases)was 15.8 / 416,and the mean somatic mutation in the right colon(3 cases)was 18/416.The mutation rate of MLH1,TOP1 and PTEN was higher in the right colon than that of the left colon(P=0.04,P=0.02,and P=0.03).Compared with patients with stages I and II,the mutation rate of KRAS was much higher in patients with stages III and IV(P=0.03).Patients who had high risk factors(nerve invasion or vessel carcinoma embolus)are more likely to have ERCC2,MLH1 mutations(P=0.031,P=0.011).In contrast,these patients had a reduced mutation rate of XRCC1(P=0.006).Patients with liver metastases were more likely to have ERCC1,TP53,and VEGFR mutations(P=0.001,P=0.023,P=0.001).The gene mutation rate was not related to T,N stages,and lung or lymph node metastasis.KRAS mutations reduced the progression-free time(P = 0.018)Conclusion: The mutation rates of TOP1,MLH1 and PTEN genes in the left and right colon are different.The mutation of ERCC2 and MLH1 is associated with the risk factors such as nerve invasion and vascular carcinoma embolus,as well as the site of recurrence and metastasis.