Bioinformatics of Department, Key laboratory of Cell Biology, Ministry of Public Health, and Key Laboratory of Medical Cell Biology, Ministry of Education, School of Life Sciences, China Medical University, China.
Bioinformatics of Department, Key laboratory of Cell Biology, Ministry of Public Health, and Key Laboratory of Medical Cell Biology, Ministry of Education, School of Life Sciences, China Medical University, China.
Pathol Res Pract. 2020 Jun;216(6):152943. doi: 10.1016/j.prp.2020.152943. Epub 2020 Mar 26.
Endometrial carcinoma (EC) is a genetic disease, normally accompanied by gene mutations or abnormal expression patterns. However, PTEN mutation and its prognostic value in EC remained debated. Meanwhile, the distribution of PTEN mutation, as well as its correlation with clinical characteristics and tumor immune infiltrating cells, is still poorly understood.
We conducted a comprehensive analysis of PTEN mutation based on The Cancer Genome Atlas (TCGA) database, including 525 uterine corpus endometrial carcinoma (UCEC) samples. We analyzed the frequency of PTEN mutation, distribution of PTEN mutation in different clinical characteristics, the prognostic value of PTEN mutation, and the correlation with tumor immune infiltrating cells in tumor microenvironment.
PTEN mutation was detected in 65.5﹪of total EC samples. PTEN mutation was significantly associated with age, histological type, clinical stage, and grade. In addition, the patients with PTEN mutation showed a significantly prolonged overall survival (OS) time and disease free survival (DFS) time compared with EC patients without PTEN mutation in entire group, training group, and validation group. Multivariate Cox regression analyses suggested that PTEN mutation was an independent prognostic factor in DFS. Moreover, the percentages of Tregs (P = 0.014) and M1 macrophages (P = 0.013) were significantly different in PTEN mutation group and non-mutation group.
PTEN mutation was correlated with favorable prognosis in EC patients. In addition, PTEN mutation was found to be associated with immune infiltrating cells in tumor microenvironment. Taken together, these findings suggested that PTEN could be regarded a potential predictive and therapeutic target for EC.
子宫内膜癌(EC)是一种遗传性疾病,通常伴有基因突变或异常表达模式。然而,PTEN 突变及其在 EC 中的预后价值仍存在争议。同时,PTEN 突变的分布及其与临床特征和肿瘤免疫浸润细胞的相关性仍知之甚少。
我们基于癌症基因组图谱(TCGA)数据库对 PTEN 突变进行了全面分析,包括 525 例子宫体子宫内膜癌(UCEC)样本。我们分析了 PTEN 突变的频率、PTEN 突变在不同临床特征中的分布、PTEN 突变的预后价值以及与肿瘤微环境中肿瘤免疫浸润细胞的相关性。
在总 EC 样本中,检测到 65.5﹪的样本存在 PTEN 突变。PTEN 突变与年龄、组织学类型、临床分期和分级显著相关。此外,与无 PTEN 突变的 EC 患者相比,整个组、训练组和验证组中存在 PTEN 突变的患者总生存(OS)时间和无病生存(DFS)时间显著延长。多变量 Cox 回归分析表明,PTEN 突变是 DFS 的独立预后因素。此外,PTEN 突变组和非突变组的 Tregs(P = 0.014)和 M1 巨噬细胞(P = 0.013)的百分比差异有统计学意义。
PTEN 突变与 EC 患者的良好预后相关。此外,PTEN 突变与肿瘤微环境中的免疫浸润细胞有关。综上所述,这些发现表明 PTEN 可作为 EC 的潜在预测和治疗靶点。