CALR exon 9 indels são o segundo motorista mais comum em ET (~25-30%) e um WHO 2022 / ICC...
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| ID | BMA-CALR-ET |
|---|---|
| Tipo | Relevância terapêutica |
| Estado | reviewed 2026-04-27 | pending_clinical_signoff | actionability review required |
| Doenças | DIS-ET |
| Fontes | SRC-CIVIC SRC-ESMO-MPN-2015 SRC-NCCN-MPN-2025 SRC-PT1-HARRISON-2005 |
Fatos de ação
| Biomarcador | BIO-CALR |
|---|---|
| Variante | exon 9 indels — tipo-1/tipo-1-like (deleção de 52-bp) e tipo-2/tipo-2-liker (5-bps inserção); ~25-30% de trombocitemia essencial |
| Doença | DIS-ET |
| Nível ESCAT | IA |
| Combinações recomendadas | observation (very-low-risk CALR-mutated per SRC-ESMO-MPN-2015), 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) |
| Resumo das provas | CALR exon 9 indels are the second most common driver in ET (~25-30%) and a WHO 2022 / ICC 2022 major diagnostic criterion in JAK2/MPL- negative cases (per SRC-NCCN-MPN-2025, SRC-ESMO-MPN-2015). CALR- mutated ET has lower thrombosis risk than JAK2-mutated ET, which feeds into IPSET-thrombosis stratification: very-low-risk CALR patients may be managed with observation alone; otherwise risk- stratified management identical to JAK2-positive ET (low-risk → aspirin; high-risk → hydroxyurea/IFN per SRC-PT1-HARRISON-2005). |
Notas
ESCAT IA / OncoKB Level 1 — diagnostic criterion. CALR type-1 (52-bp deletion) is more common in PMF and confers better OS than type-2 per several retrospective series; type-2 is enriched in ET. CALR- specific therapeutics (anti-CALR monoclonal antibodies, e.g. INCA 033989) are in early-phase trials only; no in-repo source ingested yet. Source-gap: SRC-NCCN-MPN-2025 STUB.
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