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Recurrent somatic mutations in POLR2A define a distinct subset of meningiomas [RNA-seq]

GSE85133Clark et al., 2016

POLR2A driver-mutation discovery cohort

The original description of recurrent POLR2A mutations as a distinct meningioma driver (Clark et al., Nature Genetics 2016, PMID 27548314), a landmark paper in meningioma genomics. 19 tumors RNA-sequenced representing the major mutation groups (NF2/chr22 loss, POLR2A, KLF4/TRAF7, AKT1/TRAF7), part of the combined GSE85135 SuperSeries, which also includes array data and a companion ChIP-seq SubSeries. A secondary paper (Nat Commun 2023, PMID 37805627) later reused this same RNA-seq data for an unrelated hedgehog-pathway finding, demonstrating this dataset's continued value for secondary analysis.

Modality
Bulk RNA-seq
Sample count
19
Patient count
19
Institution
Yale University School of Medicine
Corresponding author
Murat Günel
Platform
Illumina HiSeq 2500 (GPL16791)
Access type
open
Tissue preservation
Not reported
WHO edition
Not reported
Grade breakdown
G1: 19 G2: 0 G3: 0
Sex distribution
14 female, 5 male (n=19, extracted from GSM 'gender' field)
Age distribution
n=18 (1 missing), range 42.0-78.0, mean 59.9 (extracted from GSM 'age' field)
Anatomic location
Not reported
Brain invasion
Not reported
Normal/control tissue
None
Linked to other modalitiesMolecular subtype annotatedPeer-reviewed
  • Clark VE, et al. Recurrent somatic mutations in POLR2A define a distinct subset of meningiomas. Nature Genetics, 2016. PMID 27548314 · DOI
  • Youngblood MW, et al. Super-enhancer hijacking drives ectopic expression of hedgehog pathway ligands in meningiomas. Nature Communications, 2023. PMID 37805627 · DOI

Also related: GSE85135, PRJNA336283, SRP080850

Sources

  • GEO
    https://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE85133
  • PubMed
    https://pubmed.ncbi.nlm.nih.gov/27548314/
  • DOI
    https://doi.org/10.1038/ng.3651
  • PubMed
    https://pubmed.ncbi.nlm.nih.gov/37805627/
  • ncbi.nlm.nih.gov
    https://www.ncbi.nlm.nih.gov/bioproject/PRJNA336283