JAK2 V617F is the defining driver of polycythemia vera (~95%) and a WHO 2022 / ICC 2022 m...
Vista determinista de la entidad fuente YAML. La autoridad clínica sigue con los ID de fuente citados y estado de firma del revisor.
| ID | BMA-JAK2-V617F-PV |
|---|---|
| Tipo | Relevancia terapéutica |
| Situación | reviewed 2026-04-27 | pending_clinical_signoff | actionability review required |
| Enfermedades | DIS-PV |
| Fuentes | SRC-CIVIC SRC-ESMO-MPN-2015 SRC-NCCN-MPN-2025 SRC-PROUD-PV-GISSLINGER-2020 SRC-RESPONSE-VANNUCCHI-2015 |
Hechos relativos a la posibilidad de adoptar medidas
| Biomarcador | BIO-JAK2 |
|---|---|
| Variante | V617F (exón 14, dominio de la pseudoquinasa JH2 — presente en ~95% de la policitemia vera) |
| Enfermedad | DIS-PV |
| El nivel de ESCAT | IA |
| Combinaciones recomendadas | phlebotomy + low-dose aspirin (low-risk PV per SRC-NCCN-MPN-2025), hydroxyurea (high-risk 1L cytoreduction per SRC-NCCN-MPN-2025, SRC-ESMO-MPN-2015), ropeginterferon alfa-2b (high-risk; preferred for younger patients per SRC-PROUD-PV-GISSLINGER-2020), ruxolitinib (post-hydroxyurea resistance/intolerance per SRC-RESPONSE-VANNUCCHI-2015) |
| Resumen de las pruebas | JAK2 V617F is the defining driver of polycythemia vera (~95%) and a WHO 2022 / ICC 2022 major diagnostic criterion (per SRC-NCCN-MPN-2025, SRC-ESMO-MPN-2015). Treatment is risk-stratified, not variant-genotype directed: low-risk PV → phlebotomy + low-dose aspirin; high-risk PV (age ≥60 or prior thrombosis) → cytoreduction with hydroxyurea or interferon-alpha (ropeginterferon-alfa-2b, PROUD-PV / CONTINUATION-PV Gisslinger 2020 — superior molecular response and event-free survival at 5y vs hydroxyurea); ruxolitinib (RESPONSE Vannucchi 2015 — 21% CHR + spleen response vs 1% best available therapy) for hydroxyurea- intolerant or -resistant disease. |
Notas
ESCAT IA / OncoKB Level 1 — JAK2 mutation status is required for diagnosis (WHO 2022 major criterion) and dictates eligibility for JAK-targeted therapy. Risk model: IPSS-PV (age, leukocytosis, thrombosis history). The V617F allele burden may correlate with phenotype severity but is not used as a treatment-selection threshold in current guidelines (per SRC-NCCN-MPN-2025, SRC-ESMO-MPN-2015). Exon 12 JAK2 mutations (~3%) cause idiopathic erythrocytosis with similar management — see notes on detection. Source-gap: SRC-NCCN-MPN-2025 currently STUB; awaits full ingestion.
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