{"entity":{"id":"pdgfra","kind":"target","name":"PDGFRA","aka":[],"tldr":"PDGFRA is a growth-factor receptor mutated in about 10% of GISTs, including the D842V mutation that resists imatinib but responds to avapritinib.","summary":"PDGFRA activating mutations (exons 12, 14, 18) define KIT-wild-type GIST with gastric location and epithelioid morphology; D842V (~60% of PDGFRA-mutant GIST) is imatinib-resistant but responds to avapritinib (~90% response, 2020). FIP1L1-PDGFRA fusions cause hypereosinophilic syndrome/chronic eosinophilic leukaemia that is exquisitely imatinib-sensitive; PDGFRA amplification occurs in glioblastoma (~15%) without a proven therapy. Olaratumab (anti-PDGFRα) failed in sarcoma (ANNOUNCE).","asOf":"2026-09-08","wikipedia":"https://en.wikipedia.org/wiki/PDGFRA","links":[{"label":"Heinrich 2003 (Science)","url":"https://doi.org/10.1126/science.1079666"}],"tags":["gap-fill"],"related":["kit","pdgfra-exon-18-d842v"],"cancers":["gist","glioblastoma","sarcoma"],"sections":[],"technologies":["kinase-inhibitors"],"targets":[],"drugs":["avapritinib","imatinib","ripretinib","sunitinib","chiauranib"],"companies":[],"institutions":[],"pathways":["ras-mapk","pi3k-akt-mtor","glioma-signalling"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"PDGFRA","role":[],"sources":[],"specificity":"tumour-specific","distribution":"few-types","specificityNote":"Tumour-specific alteration: 1 of 1 label readouts filed under it measure a sequence variant (PDGFRA exon 18 mutation (D842V)) absent from normal cells. HPA PDGFRA: RNA tissue enhanced (ovary 188 nTPM); high antibody staining in 5 normal tissues. Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Sarcomas (soft tissue, bone, GIST), Brain and spinal cord tumours (all types)); approvals of single-target medicines aimed at it also list Myeloid neoplasms, Leukaemia, Skin cancer (all types), not counted; Open Targets associates it with 7 specific cancer types at or above 0.5 (gastrointestinal stromal tumor, acute myeloid leukemia, soft tissue sarcoma, renal cell carcinoma, non-small cell lung carcinoma, colorectal cancer and more). (Rule 3 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"PDGFRA exon 18 mutation (D842V) label threshold","url":"https://dailymed.nlm.nih.gov/dailymed/drugInfo.cfm?setid=645c887c-8cd4-4623-8da9-ac223d71a8b9","note":"PDGFRA exon 18 mutation including D842V"},{"label":"Human Protein Atlas PDGFRA tissue","url":"https://www.proteinatlas.org/ENSG00000134853-PDGFRA/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000134853 associations","url":"https://platform.opentargets.org/target/ENSG00000134853/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:8803","ensembl":"ENSG00000134853","uniprot":"P16234","entrez":"5156","firstDescribed":1989,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Claesson-Welsh et al, Proc. Natl. Acad. Sci. U.S.A, 1989, \"cDNA cloning and expression of the human A-type platelet-derived growth factor (PDGF) receptor establishes structural similarity to the B-type PDGF receptor\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2544881/","biology":"Type III receptor tyrosine kinase (with KIT, CSF1R, FLT3); ligand PDGF-AA/BB dimerises the receptor, activating RAS/MAPK, PI3K and STAT pathways; D842V in the activation loop stabilises the active conformation.","whereFound":["GIST (~10%, gastric, KIT-wild-type)","Chronic eosinophilic leukaemia (FIP1L1-PDGFRA)","Glioblastoma (amplification ~15%)","Dermatofibrosarcoma protuberans (COL1A1-PDGFB, ligand-driven)"],"targetClass":"kinase","prevalence":[{"cancerId":"gist","pct":"10","measure":"PDGFRA mutation","source":"https://doi.org/10.1126/science.1079666"},{"cancerId":"glioblastoma","pct":"15","measure":"amplification"}]},"route":"/targets/pdgfra/","neighbours":{"target":[{"id":"csf1r","kind":"target","name":"CSF1R","route":"/targets/csf1r/"},{"id":"kit","kind":"target","name":"KIT","route":"/targets/kit/"}],"biomarker":[{"id":"pdgfra-exon-18-d842v","kind":"biomarker","name":"PDGFRA exon 18 mutation (D842V)","route":"/biomarkers/pdgfra-exon-18-d842v/"}],"cancer":[{"id":"chordoma","kind":"cancer","name":"Chordoma","route":"/cancers/chordoma/"},{"id":"dermatofibrosarcoma-protuberans","kind":"cancer","name":"Dermatofibrosarcoma protuberans","route":"/cancers/dermatofibrosarcoma-protuberans/"},{"id":"desmoplastic-small-round-cell-tumour","kind":"cancer","name":"Desmoplastic small round cell tumour","route":"/cancers/desmoplastic-small-round-cell-tumour/"},{"id":"gist","kind":"cancer","name":"Gastrointestinal stromal tumour (GIST)","route":"/cancers/gist/"},{"id":"glioblastoma","kind":"cancer","name":"Glioma & glioblastoma","route":"/cancers/glioblastoma/"},{"id":"inflammatory-myofibroblastic-tumour","kind":"cancer","name":"Inflammatory myofibroblastic tumour (IMT)","route":"/cancers/inflammatory-myofibroblastic-tumour/"},{"id":"gist-pdgfra-d842v","kind":"cancer","name":"PDGFRA D842V-mutant GIST","route":"/cancers/gist-pdgfra-d842v/"},{"id":"sarcoma","kind":"cancer","name":"Sarcomas (soft tissue, bone, GIST)","route":"/cancers/sarcoma/"}],"technology":[{"id":"kinase-inhibitors","kind":"technology","name":"Small-molecule kinase inhibitors","route":"/technologies/kinase-inhibitors/"}],"drug":[{"id":"avapritinib","kind":"drug","name":"Avapritinib","route":"/drugs/avapritinib/"},{"id":"chiauranib","kind":"drug","name":"Chiauranib","route":"/drugs/chiauranib/"},{"id":"imatinib","kind":"drug","name":"Imatinib","route":"/drugs/imatinib/"},{"id":"ripretinib","kind":"drug","name":"Ripretinib","route":"/drugs/ripretinib/"},{"id":"sunitinib","kind":"drug","name":"Sunitinib","route":"/drugs/sunitinib/"}],"pathway":[{"id":"glioma-signalling","kind":"pathway","name":"Glioma (KEGG map)","route":"/pathways/glioma-signalling/"},{"id":"pi3k-akt-mtor","kind":"pathway","name":"PI3K / AKT / mTOR","route":"/pathways/pi3k-akt-mtor/"},{"id":"ras-mapk","kind":"pathway","name":"RAS / RAF / MEK / ERK (MAPK)","route":"/pathways/ras-mapk/"},{"id":"rtk-activation","kind":"pathway","name":"Receptor tyrosine kinase activation","route":"/pathways/rtk-activation/"},{"id":"angiogenic-switch","kind":"pathway","name":"The angiogenic switch & tumour vessels","route":"/pathways/angiogenic-switch/"}],"term":[{"id":"gist-risk-stratification","kind":"term","name":"GIST risk stratification (mitotic count, size, site; Miettinen and modified NIH criteria)","route":"/terms/gist-risk-stratification/"}]}}