Comprehensive mutational profiling identifies new driver events in cutaneous leiomyosarcoma.

ABSTRACT:

Background

Cutaneous leiomyosarcoma (cLMS) is a rare soft-tissue neoplasm, showing smooth muscle differentiation, that arises from the mesenchymal cells of the dermis. To date, genetic investigation of these tumours has involved studies with small sample sizes and limited analyses that identified recurrent somatic mutations in RB1 and TP53, copy number gain of MYOCD and IGF1R, and copy number loss of PTEN.

Objectives

To better understand the molecular pathogenesis of cLMS, we comprehensively explored the mutational landscape of these rare tumours to identify candidate driver events.

Methods

In this retrospective, multi-institutional study, we performed whole-exome sequencing and RNA sequencing in 38 cases of cLMS.

Results

TP53 and RB1 were identified as signifi

SUBMITTER: van der Weyden L 

PROVIDER: S-EPMC11758588 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature