PDGFRA mutation
Deterministic view of the source YAML entity. Clinical authority remains with the cited source IDs and reviewer sign-off state.
| ID | BIO-PDGFRA |
|---|---|
| Type | Biomarker |
| Aliases | PDGFR-α mutationPDGFRA D842VМутація PDGFRA |
| Status | reviewed 2026-04-27 | pending_clinical_signoff |
| Diseases | None declared |
| Sources | SRC-NCCN-MELANOMA-2025 SRC-ONCOKB |
Biomarker Facts
| Biomarker type | gene_mutation |
|---|---|
| Mutation details | {"functional_impact": "Constitutive PDGFRA tyrosine kinase activation", "gene": "PDGFRA", "gene_hugo_id": "HGNC:8803", "hotspots": ["D842V (exon 18 — activation loop; ~70% of PDGFRA-mutant GIST; imatinib-RESISTANT, avapritinib-sensitive)", "exon 18 non-D842V (deletions — imatinib-sensitive)", "exon 12 (juxtamembrane — imatinib-sensitive; rare)", "exon 14 (kinase domain — rare)"], "variant_type": "missense / deletion"} |
| Measurement | MethodDNA-NGS (preferred — covers exons 12 / 14 / 18) OR Sanger directed at exons 12 + 18 Unitscategorical; variant + exon reported Sensitivity requirementStandard NGS |
| Related biomarkers | BIO-KIT |
Notes
~10% of GIST overall; ~80% of stomach (vs small-bowel) GIST. D842V (the dominant variant) is imatinib-RESISTANT and historically the worst-prognosis GIST subtype. Avapritinib (NAVIGATOR / VOYAGER) changed the paradigm — FDA-approved for unresectable / metastatic PDGFRA-D842V-mutant GIST 1L; ORR ~88% historical control vs ~0% on imatinib. Non-D842V exon-18 mutations and exon 12 mutations remain imatinib-sensitive. Eosinophilic disorders (myeloid neoplasms with PDGFRA fusion to FIP1L1 etc.) are a separate entity and use imatinib 100 mg / day.
Used By
Actionability
BMA-PDGFRA-D842V-GIST- PDGFRA D842V in GIST is imatinib-RESISTANT (distinct from imatinib-sensitive PDGFRA non-D...BMA-PDGFRA-EXON12-GIST- PDGFRA exon 12 mutations in GIST are imatinib-sensitive. Imatinib 400 mg/day is standard...BMA-PDGFRA-EXON14-GIST- PDGFRA exon 14 mutations in GIST are very rare and are imatinib- sensitive. Treatment is...BMA-PDGFRA-EXON18-NON-D842-GIST- PDGFRA non-D842V exon 18 mutations in GIST are imatinib-SENSITIVE (distinct from D842V)....
Algorithms
ALGO-GIST-1L- ALGO-GIST-1L
Biomarker
BIO-KDR- KDR (VEGFR2) mutation / amplification — vascular endothelial growth factor receptor 2BIO-KIT- KIT mutation
Diseases
DIS-GIST- Gastrointestinal stromal tumor (GIST)
Indications
IND-GIST-1L-AVAPRITINIB-PDGFRA-D842V- IND-GIST-1L-AVAPRITINIB-PDGFRA-D842VIND-GIST-1L-IMATINIB- IND-GIST-1L-IMATINIBIND-GIST-2L-SUNITINIB- IND-GIST-2L-SUNITINIBIND-GIST-4L-RIPRETINIB- IND-GIST-4L-RIPRETINIB
Questionnaires
QUEST-GIST-1L-STUB- Gastrointestinal stromal tumor — first line
Red flag
RF-GIST-HIGH-RISK-BIOLOGY- Adverse genotype or anatomic risk in GIST: PDGFRA D842V (imatinib-resistant — avapritinib...RF-GIST-PDGFRA-D842V- PDGFRA D842V substitution mutation in advanced or metastatic GIST. The PDGFRA D842V varia...