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| Status |
Public on Nov 24, 2021 |
| Title |
Methylation profiling reveals novel molecular classes of rhabdomyosarcoma |
| Organism |
Homo sapiens |
| Experiment type |
Methylation profiling by genome tiling array
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| Summary |
Rhabdomyosarcomas (RMS) represent a family of aggressive soft tissue sarcomas that present in both the pediatric and adult setting. Pathologic risk stratification for RMS has been based on histologic subtype, with poor outcomes observed in alveolar rhabdomyosarcoma (ARMS) and adult-type pleomorphic rhabdomyosarcoma (PRMS) compared to embryonal rhabdomyosarcoma (ERMS). Recent genomic sequencing studies have expanded the spectrum of RMS, with several new molecularly defined entities, including fusion-driven spindle cell/sclerosing rhabdomyosarcoma (SC/SRMS) and MYOD1-mutant SC/SRMS. Comprehensive genomic analysis has previously defined the mutational and copy number spectrum for the more common ERMS and ARMS, as well as revealed corresponding methylation signatures. In contrast, genetic and epigenetic correlates have not been defined for the rare SC/SRMS or PRMS histologic subtypes. Herein, we present genomic sequencing, copy number analysis, and methylation profiling of the largest cohort of molecularly characterized RMS samples to date. We identified two novel methylation subtypes, one having SC/SRMS histology and defined by MYOD1 p. L122R mutations and the other matching adult type PRMS. Selected tumors from adolescent patients grouped with the PRMS methylation class, expanding the age range of these rare tumors. Pediatric patients in the MYOD1-mutant group, as well as those clustering with PRMS, appear to have poor overall survival.
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| Overall design |
Herein, we report genomic analysis, including genome-wide methylation profiling, copy number analysis, and next generation sequencing of 154 rhabdomyosarcomas and 4 skeletal muscle controls representing all primary histologic types of both adult and pediatric disease.
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| Contributor(s) |
Orr B, Clay M, Tran Q |
| Citation(s) |
34782706 |
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| Submission date |
Feb 18, 2021 |
| Last update date |
Nov 25, 2021 |
| Contact name |
Quynh Tran |
| E-mail(s) |
qtran@stjude.org
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| Organization name |
St. Jude Children's Research Hospital
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| Department |
Pathology
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| Street address |
262 Danny Thomas Place, C4029, Mail Stop 250
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| City |
Memphis |
| State/province |
TN |
| ZIP/Postal code |
38105 |
| Country |
USA |
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| Platforms (1) |
| GPL23976 |
Illumina Infinium HumanMethylation850 BeadChip |
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| Samples (158)
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| Relations |
| BioProject |
PRJNA702806 |
| Supplementary file |
Size |
Download |
File type/resource |
| GSE167059_RAW.tar |
2.2 Gb |
(http)(custom) |
TAR (of IDAT) |
| Processed data included within Sample table |
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