Complete loss of TP53 and RB1 is associated with complex genome and low immune infiltrate in pleomorphic rhabdomyosarcoma

Autor: Hannah C. Beird, Chia-Chin Wu, Michael Nakazawa, Davis Ingram, Joseph R. Daniele, Rossana Lazcano, Latasha Little, Christopher Davies, Najat C. Daw, Khalida Wani, Wei-Lien Wang, Xingzhi Song, Curtis Gumbs, Jianhua Zhang, Brian Rubin, Anthony Conley, Adrienne M. Flanagan, Alexander J. Lazar, P. Andrew Futreal
Jazyk: angličtina
Rok vydání: 2023
Předmět:
Zdroj: HGG Advances, Vol 4, Iss 4, Pp 100224- (2023)
Druh dokumentu: article
ISSN: 2666-2477
DOI: 10.1016/j.xhgg.2023.100224
Popis: Summary: 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.
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