肿瘤防治研究2025，Vol.52Issue(12)：997-1005,9.DOI:10.3971/j.issn.1000-8578.2025.25.0420
青海地区乳腺癌PIK3CA和TP53基因突变的病理特征分析
Pathological Characteristics of Mutations in PIK3CA and TP53 Genes in Breast Cancer Cases from Qinghai Area
摘要
Abstract
Objective To analyze ethnic differences in mutations of the PIK3CA and TP53 genes among breast cancer patients from the Han,Tibetan,and Hui ethnic groups in Qinghai,China,and their associations with clinicopathological characteristics.Methods A total of 382 breast cancer tissue samples were retrospectively collected from surgical patients(Jan 2020-Dec 2022),comprising 200 Han,93 Tibetan,and 89 Hui ethnicity.Mutations in PIK3CA(E542K,H1047R,and E545K)and TP53(R273H and R175H)were detected by using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry.Correlations between mutations and clinicopathological parameters were analyzed.Results Significant differences were observed in pTNM stage,lymph node metastasis,molecular subtypes,and PR status among the three ethnic groups.The overall mutation rate of PIK3CA and TP53 was 48.95%.The PIK3CA-p.E542K mutation rate in Tibetan cohort was significantly higher than those in Han and Hui cohort,whereas the detection rate of the PIK3CA-p.E545K mutation was lower in Tibetan cohort than that in Han cohort.The PIK3CA-p.E542K mutation was associated with an increased risk of lymph node metastasis.The TP53-p.R175H mutation was significantly correlated with advanced pTNM stage,vascular invasion,and triple-negative breast cancer.The PIK3CA-H1047R and E545K mutations were enriched in the luminal A subtype of breast cancer.Conclusion Considerable ethnic disparities exist in breast cancer mutation profiles in Qinghai,with the high-frequency PIK3CA-p.E542K mutation in Tibetan population potentially serving as a region-specific therapeutic target.Mutations are closely linked to tumor aggressiveness and molecular subtypes,highlighting the value of PIK3CA/TP53 mutation detection for early risk stratification and personalized treatment of breast cancer in high-altitude populations.关键词
乳腺癌/基因突变/民族/个体化治疗/PIK3CA/TP53Key words
Breast cancer/Gene mutation/Nationality/Personalized treatment/PIK3CA/TP53分类
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李雪玥,胡婧,廖鸿元,张海琴,李秀德,雷浩,周晓峰..青海地区乳腺癌PIK3CA和TP53基因突变的病理特征分析[J].肿瘤防治研究,2025,52(12):997-1005,9.基金项目
Department of Science and Technology of Qinghai Province(No.2024-SF-L01) （No.2024-SF-L01）
Kunlun Elite·High-End Innovation and Entrepreneurship Talents(Outstanding Talents),Qinghai Province,2024 青海省科技厅项目(2024-SF-L01) （Outstanding Talents）
2024年度青海省"昆仑英才·高端创新创业人才"项目拔尖人才 （）
