Detection of PIK3CA gene mutation and its related prognosis in colorectal cancer based on next-generation sequencing
10.3760/cma.j.cn112151-20231113-00355
- VernacularTitle:基于二代测序检测结直肠癌中PIK3CA基因突变及其与预后的相关性分析
- Author:
Xiao PENG
1
;
Xin ZHANG
;
Hongxia LU
;
Lulu SHEN
;
Ning GAO
;
Likun ZAN
Author Information
1. 山西医科大学第二临床医学院，太原 030001
- Keywords:
Colorectal neoplasms;
Sequence analysis, DNA;
Antineoplastic protocols;
PIK3CA
- From:
Chinese Journal of Pathology
2024;53(7):716-721
- CountryChina
- Language:Chinese
-
Abstract:
Objectives:To investigate the mutation of PIK3CA in colorectal cancer and to analyze their clinicopathological features, and evaluate their role in clinical treatment and prognostication.Methods:A total of 128 paraffin-embbeded tissue samples of colorectal cancer from Shanxi Cancer Hospital from 2018 to 2021 were collected. DNA was extracted from the samples, and next-generation sequencing (NGS) was used to detect PIK3CA mutation. The relationship between PIK3CA mutation, their clinicopathological features, and prognosis were analyzed.Results:Among the 128 colorectal cancer samples, there were 75 males and 53 females; with aged range 32-86 years, median 61.5 years, 27 (21.09%) had PIK3CA mutations. Colorectal cancer with PIK3CA mutation was more likely to occur in male patients ( P=0.007), which was related to tumor site ( P=0.032), tumor size ( P=0.029) and TP53 wild-type ( P=0.001). The common site mutations of PIK3CA mostly occurred in tumors with tumor mutation burden≥10 Muts/Mb ( P=0.031).PIK3CA mutation had no significant effect on the survival prognosis of patients, but the efficacy of anti-angiogenic therapy was poor in these patients. Conclusions:PIK3CA mutation is a common mutation in colorectal cancer and plays an important role in the occurrence and development of colorectal cancer. PIK3CA mutation may lead to resistance to anti-angiogenic drugs in colorectal cancer, but its impact on survival and prognosis to patients needs further study.
