Abstract
Rhabdomyosarcoma accounts for roughly 1% of adult sarcomas, with pleomorphic rhabdomyosarcoma (PRMS) as the most common subtype. Survival outcomes remain poor for patients with PRMS, and little is known about the molecular drivers of this disease. To better characterize PRMS, we performed a broad array of genomic and immunostaining analyses on 25 patient samples. In terms of gene expression and methylation, PRMS clustered more closely with other complex karyotype sarcomas than with pediatric alveolar and embryonal rhabdomyosarcoma. Immune infiltrate levels in PRMS were among the highest observed in multiple sarcoma types and contrasted with low levels in other rhabdomyosarcoma subtypes. Lower immune infiltrate was associated with complete loss of both TP53 and RB1. This comprehensive characterization of the genetic, epigenetic, and immune landscape of PRMS provides a roadmap for improved prognostications and therapeutic exploration.
Original language | English (US) |
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Article number | 100224 |
Journal | Human Genetics and Genomics Advances |
Volume | 4 |
Issue number | 4 |
DOIs | |
State | Published - Oct 12 2023 |
Keywords
- Complex karyotype
- Pleomorphic rhabdomyosarcoma
- Rhabdomyosarcoma
- Sarcoma
- TP53
ASJC Scopus subject areas
- Molecular Medicine
- Genetics(clinical)