Multiomic profiling of pleomorphic rhabdomyosarcoma

Rhabdomyosarcoma (RMS) describes rare soft-tissue tumors that exhibit features of skeletal muscle differentiation. The most common subtypes in children are alveolar and embryonal rhabdomyosarcoma, with the alveolar subtype characterized by PAX3/7 fusions. A lesser known and rarer subtype, pleomorphic rhabdomyosarcoma (PRMS), occurs most frequently in adults vetween the ages of 40 and 50. This pleomorphic subtype is often misdiagnosed and little is known about its molecular characterization. Here, we conducted comprehensive genomic, transcriptomic, and methylation profiling of these tumors.

Type: Other
Archiver: European Genome-Phenome Archive (EGA)

1 Dataset 1 Publication

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID	Description	Technology	Samples
EGAD00001010915	Transcriptome sequencing of three normal skeletal muscle and 15 pleomorphic rhabdomyosarcoma patient tumors.	NextSeq 500	20

Publications	Citations
Complete loss of <i>TP53</i> and <i>RB1</i> is associated with complex genome and low immune infiltrate in pleomorphic rhabdomyosarcoma. Beird HC, Wu CC, Nakazawa M, Ingram D, Daniele JR, Lazcano R, Little L, Davies C, Daw NC, Wani K, Wang WL, Song X, Gumbs C, Zhang J, Rubin B, Conley A, Flanagan AM, Lazar AJ, Futreal PA. HGG Adv 4: 2023 100224	0