Genomic landscape, immune characteristics and a prognostic mutation signature of cervical cancer in China

Purpose: This study aimed to analyze genomic alteration profiles and immune characteristics of a cohort of Chinese cervical cancer patients to understand why certain patients benefited from molecular targeted therapies, immunotherapy and their prognostic significance. Methods: : PD-L1 expression, and clinicopathological information from 98 cervical cancer samples. Differences in PD-L1 expression and gene mutations between squamous cell carcinoma (SCC) and adenocarcinoma (AC) were analyzed by chi-square test or Fisher's exact test. Differences in gene mutations between our cohort and the Cancer Genome Atlas (TCGA) cohort were tested by Fisher's exact test. Logistic regression was used to analyze factors influencing TMB-high. Results: : Positive PD-L1 expression was significantly higher in cervical SCC than in cervical AC (87% vs. 39%, p < 0.001). Frequently mutated genes in cervical cancer included PIK3CA, KMT2D , and KMT2C genes, among others. PIK3CA gene mutation rates were significantly higher in SCC than in AC ( p = 0.004). TERT gene mutation rate was significantly higher in our cohort than TCGA cohort (12% vs. 1%, p < 0.001). The independent predictors of TMB-high were KMT2C and LRP1B gene mutations ( p < 0.05). we also found the PTEN mutations were associated with worse survival (median PFS, 12.16 vs. 21.75 months, p = 0.0024) Conclusion: Cervical SCC and AC have different molecular profiling and immune characteristics, suggesting that targeted treatments for SCC and AC patients may improve clinical outcomes. KMT2C and LRP1B gene mutations are independent predictors of TMB-high status in cervical cancer. We have also proposed the prognostic value of PTEN mutations.