Identification of Somatic Genetic Alterations Using Whole-Exome Sequencing of Uterine Leiomyosarcoma Tumors.

ABSTRACT:

Background

The genomic abnormalities associated with uterine leiomyosarcoma (uLMS) have not been fully elucidated to date.

Objective

To understand the pathogenesis of uLMS and to identify driver mutations and potential therapeutic targets in uLMS.

Methods

Three matched tumor-constitutional DNA pairs from patients with recurrent uLMS were subjected to whole-exome capture and next-generation sequencing. The role of the selected gene SHARPIN in uLMS was analyzed by the CCK-8 assay and colony formation assay after specific siRNA knockdown.

Results

We identified four genes with somatic SNVs, namely, SLC39A7, GPR19, ZNF717, and TP53, that could be driver mutations. We observed that 30.7% (4/13) of patients with uLMS had TP53 mutations as analyzed by direct seq

SUBMITTER: Chen L 

PROVIDER: S-EPMC8226214 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature