PTEN mutation: A potential prognostic factor associated with immune infiltration in endometrial carcinoma

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.