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PDGFRA N659K
GenePDGFRA
Variantmissense
Amino Acid ChangeN659K
DNA Change (Coding Nucleotide)1977C>G
Transcript ID (GRCh37/hg19)ENST00000257290
Codon659
Exon14
Genomic Coordinates (GRCh37/hg19)4:55144148-55144148
COSMIC ID22414
Germline/Somatic?Somatic
Pertinent Negative In
Tumor TypePrimary Site
See All Pertinent Negatives

Interpretations

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Tier 2
PDGFRA
Variants
PDGFRA N659K
Primary Sites
Brain
Tumor Types
Glioblastoma
Astrocytoma, NOS
Interpretation

PDGFRA amplification is reportedly present in up to 29% of pediatric and 21% of adult high-grade astrocytomas when assessed by flourescent 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. Somatic mutations within the PDGFRA gene are less frequent than amplifications. PGDFRA N659K is within the tyrosine kinase domain and confers a gain of function. Preclinical trials in N659K mutant cell lines have shown sensitivity to multi-targeted tyrosine kinase inhibitors including imatinib and crenolanib.

Last updated: 2018-05-16 16:43:53 UTC
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Disclaimer: You assume full responsibility for all risks associated with using this PMKB website. The Englander Institute for Precision Medicine at Weill Cornell Medicine makes no guarantee of the comprehensiveness, reliability or accuracy of the information on this website and assumes no responsibility for errors in the information associated with this web site. Healthcare providers and patients must integrate all clinical and laboratory findings as well as information from a variety of sources before deciding on appropriate clinical care options.


When using PMKB, please cite: Huang et al., JAMIA 2017


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