Mutación del PDGFRA
Vista determinista de la entidad fuente YAML. La autoridad clínica sigue con los ID de fuente citados y estado de firma del revisor.
| ID | BIO-PDGFRA |
|---|---|
| Tipo | Biomarcador |
| Aliaces | Mutación PDGFR-αPDGFRA D842VМутація PDGFRA |
| Situación | reviewed 2026-04-27 | pending_clinical_signoff |
| Enfermedades | DIS-GIST |
| Fuentes | SRC-NCCN-MELANOMA-2025 |
Datos sobre biomarcadores
| Tipo de biomarcador | gene_mutation |
|---|---|
| Detalles de la mutación | {"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"} |
| Medición | MétodoA. GHN (preferido — cubre los exones 12 / 14 / 18) O Sanger dirigido a los exons 12 + 18 Unidadescategórico; variante + exón notificado Requisito de sensibilidadEGN estándar |
| Productos químicos y químicos | BIO-KIT |
Notas
~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.
Utilizado por
Relevancia terapéutica
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)....
Algoritmos
ALGO-GIST-1L- ALGO-GIST-1L
Biomarcador
BIO-KDR- mutación / amplificación de KDR (VEGFR2) — receptor del factor de crecimiento endotelial vascular 2BIO-KIT- Mutación del KIT
Enfermedad
DIS-GIST- Tumor estromal gastrointestinal (GIST)
Indicación
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
Cuestionarios
QUEST-GIST-1L-STUB- Tumor estromal gastrointestinal — primera línea
Señal de alerta
RF-GIST-HIGH-RISK-BIOLOGY- Genotipo adverso o riesgo anatómico en GIST: PDGFRA D842V (resistente a imatinib — avapritinib...RF-GIST-PDGFRA-D842V- mutación de sustitución PDGFRA D842V en GIST avanzado o metastásico. El PDGFRA D842V varia...