ATRX loss in sarcomas is associated with dysregulated gene and transposable element expression, loss of DNA methylation, and worse survival.

ABSTRACT:

Background

ATRX is a tumor suppressor and key regulator of transcriptionally repressive epigenetic states. We investigate the impact of ATRX loss on gene expression, DNA methylation, and transposable element (TE) expression in common soft tissue sarcoma tumors, a family of rare cancers.

Methods

Using data from The Cancer Genome Atlas (TCGA), we analyzed 234 tumors from patients with dedifferentiated liposarcoma (DDLPS), undifferentiated pleomorphic sarcoma (UPS), soft tissue leiomyosarcoma (LMS), uterine LMS (uLMS), and myxofibrosarcoma (MFS). Corresponding clinical outcome and patient data, DNA sequencing, RNA sequencing, and 450K methylation data were integrated to assess ATRX-dependent features.

Results

ATRX loss was associated with significantly altered gen

SUBMITTER: Demanelis K 

PROVIDER: S-EPMC12668092 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature