The genetic landscape of primary malignant melanoma of the cervix using integrated bioinformatics analysis and whole-exome sequencing.

ABSTRACT:

Background

Primary malignant melanoma in the cervix (PMMC) currently has no standardized therapy. Its pathogenesis remains unclear, and the prognosis is poor. Given the high mortality of PMMC, its causes and pathogenic mechanisms need to be unraveled, and novel biomarkers must be identified.

Methods

To further understand the genomic characteristics of PMMC, whole-exome sequencing was performed on the cancerous and adjacent tissues from three patients with PMMC, and PMMC-related tumor-susceptibility genes, mutation spectrum, mutation characteristics, driver genes, and high-frequency tumor mutations were analyzed. Concurrently, SNP and copy number variation (CNV) data from melanoma patients in the COSMIC and TCGA datasets were analyzed.Key protein interactions were further val

SUBMITTER: Zhou J 

PROVIDER: S-EPMC12753427 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature