JAK2 V617F est l'un des trois moteurs déterminants de la thrombocythémie essentielle (~50-60%; CALR ~...
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| ID | BMA-JAK2-V617F-ET |
|---|---|
| Type | Pertinence thérapeutique |
| État | reviewed 2026-04-27 | pending_clinical_signoff | actionability review required |
| Maladies | DIS-ET |
| Sources | SRC-CIVIC SRC-ESMO-MPN-2015 SRC-NCCN-MPN-2025 SRC-PT1-HARRISON-2005 |
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| Biomarqueur | BIO-JAK2 |
|---|---|
| Variante | V617F (exon 14 — présent dans ~50-60% de la thrombocythémie essentielle) |
| Maladie | DIS-ET |
| Niveau ESCAT | IA |
| Combinaisons recommandées | low-dose aspirin (low-risk per SRC-NCCN-MPN-2025), hydroxyurea + aspirin (high-risk 1L per SRC-PT1-HARRISON-2005), interferon-alpha (preferred for younger high-risk per SRC-NCCN-MPN-2025, SRC-ESMO-MPN-2015), anagrelide (HU-resistant/intolerant 2L) |
| Résumé des faits | JAK2 V617F is one of three defining drivers in essential thrombocythemia (~50-60%; CALR ~25-30%, MPL ~3-5%, triple-negative ~10-15%) and a WHO 2022 / ICC 2022 major diagnostic criterion (per SRC-NCCN-MPN-2025, SRC-ESMO-MPN-2015). Treatment is risk-stratified by IPSET-thrombosis (age, prior thrombosis, JAK2 V617F positivity, cardiovascular risk factors); high-risk → cytoreduction with hydroxyurea (PT1 trial Harrison 2005 — superior thrombosis-free survival vs anagrelide in HU-naive ET); low-risk → low-dose aspirin alone (or observation in CALR-mutated very-low-risk per SRC-ESMO-MPN-2015). |
Notes
ESCAT IA / OncoKB Level 1 — JAK2 mutation status is required for diagnosis and risk stratification (IPSET-thrombosis upgrades JAK2- positive patients into higher-risk strata per SRC-ESMO-MPN-2015). V617F allele burden does not determine treatment choice. Source-gap: SRC-NCCN-MPN-2025 STUB; awaits full ingestion.
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