Objective To explore the relation between common gene mutations and clinicopathological features in patients with colorectal cancer (CRC) in stage Ⅰ-Ⅳ, and to analyze the correlation between gene mutations and first⁃line therapeutic efficacy and prognosis in stage Ⅳ CRC patients. Methods Clinical data and tissue samples of 45 CRC patients in stage Ⅰ-Ⅳ were collected, next⁃generation sequencing (NGS) technology was adopted to detect gene mutations for screening 10 genes with the highest mutation rate. The relation between common mutant genes and clinicopathological features in stage Ⅰ-Ⅳ CRC patients was analyzed, and the correlation between gene mutations and first⁃line therapeutic efficacy and prognosis in stage Ⅳ CRC patients was explored. Results The test results of 45 patients revealed that ten genes with the highest mutation rate were as follows: TP53 (82.2%), KRAS (62.2%), APC (60%), FLT3 (20%), PIK3CA (20.0%), ERBB2 (17.8%), BRCA2 (15.6%), DPYD (15.6%), POLE (15.6%), and MSH6 (15.6%). Among which, TP53 mutation was associated with lymph node metastasis (P<0.05). The KRAS mutation rate in patients with elevated serum CEA and CA199 was higher than that in patients with normal serum CEA and CA199 (P<0.05). The APC mutation rate in patients with liver metastasis was higher than that in patients without liver metastasis (P<0.05). In stage Ⅳ CRC patients, there was no correlation between common mutant genes and objective response rate and disease control rate (P>0.05), whereas KRAS gene mutation was correlated with progression⁃free survival (P<0.05). Conclusion The high⁃frequency mutated genes KRAS, APC and TP53 in CRC patients are highly correlated with clinicopathological features. In stage Ⅳ CRC patients, patients with KRAS mutation have a shorter progression⁃free survival, therefore genotyping can more accurately guide individualized therapy of patients.

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