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.
Overview
- 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
Cohort detail
- 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
Priority attributes
Linked to other modalitiesMolecular subtype annotatedPeer-reviewed
Publications
- 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
Related datasets
Also related: GSE85135, PRJNA336283, SRP080850
Sources
- GEOhttps://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE85133
- PubMedhttps://pubmed.ncbi.nlm.nih.gov/27548314/
- DOIhttps://doi.org/10.1038/ng.3651
- PubMedhttps://pubmed.ncbi.nlm.nih.gov/37805627/
- ncbi.nlm.nih.govhttps://www.ncbi.nlm.nih.gov/bioproject/PRJNA336283