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PDGFRA
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Interpretation 413
Tier 2
PDGFRA
Variants
PDGFRA copy number gain
Primary Sites
Brain
Brain, Supratentorial
Brain, Infratentorial
Tumor Types
Astrocytoma, Anaplastic
Glioblastoma
Interpretation

PDGFRA amplification is reportedly present in up to 29% of pediatric and 21% of adult high-grade astrocytomas when assessed by fluorescent in situ hydridization. Copy number alterations of this gene have been reported in approximately 11% of adult glioblastoma making it the second most commonly altered receptor tyrosine kinase after EGFR. In those adult glioblastomas that are IDH-mutant, there is evidence to suggest that amplification of PDGFRA is associated with worse overall survival.

Citations
  1. Cancer Genome Atlas Research Network. Comprehensive genomic characterization defines human glioblastoma genes and core pathways. Nature 2008;455(7216):1061-8
  2. Phillips JJ, et al. PDGFRA amplification is common in pediatric and adult high-grade astrocytomas and identifies a poor prognostic group in IDH1 mutant glioblastoma. Brain Pathol 2013;23(5):565-73
Last updated: 2019-12-08 17:22:16 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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