Epigenetic signatures differentiate uterine and soft tissue leiomyosarcoma

Nesrin M. Hasan, Anup Sharma, Nensi M. Ruzgar, Hari Deshpande, Kelly Olino, Sajid Khan, Nita Ahuja

Research output: Contribution to journalArticlepeer-review


Leiomyosarcomas (LMS) are diverse, rare, and aggressive mesenchymal soft tissue sarcomas. Epigenetic alterations influence multiple aspects of cancer, however epigenetic profiling of LMS has been limited. The goal of this study was to delineate the molecular landscape of LMS for subtype-specific differences (uterine LMS (ULMS) vs soft tissue LMS (STLMS)) based on integrated analysis of DNA methylation and gene expression to identify potential targets for therapeutic intervention and diagnosis. We identified differentially methylated and differentially expressed genes associated with ULMS and STLMS using DNA methylation and RNA-seq data from primary tumors. Two main clusters were identified through unsupervised hierarchical clustering: ULMS-enriched cluster and STLMS-enriched cluster. The integrated analysis demonstrated 34 genes associated with hypermethylation of the promoter CpG islands and downregulation of gene expression in ULMS or STLMS. In summary, these results indicate that differential DNA methylation and gene expression patterns are associated with ULMS and STLMS. Further studies are needed to delineate the contribution of epigenetic regulation to LMS subtype-specific gene expression and determine the roles of the differentially methylated and differentially expressed genes as potential therapeutic targets or biomarkers.

Original languageEnglish (US)
Pages (from-to)1566-1579
Number of pages14
Issue number16
StatePublished - Aug 3 2021
Externally publishedYes


  • DNA methylation
  • Epigenetics
  • Gene expression
  • Leiomyosarcoma
  • Uterine leiomyosarcoma

ASJC Scopus subject areas

  • Oncology


Dive into the research topics of 'Epigenetic signatures differentiate uterine and soft tissue leiomyosarcoma'. Together they form a unique fingerprint.

Cite this