CALR exon 9 Indels sind der zweithäufigste Fahrer in ET (~25-30%) und ein WHO 2022 / ICC...
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| ID | BMA-CALR-ET |
|---|---|
| Art | Therapeutische Relevanz |
| Status | reviewed 2026-04-27 | pending_clinical_signoff | actionability review required |
| Erkrankungen | DIS-ET |
| Quellen | SRC-CIVIC SRC-ESMO-MPN-2015 SRC-NCCN-MPN-2025 SRC-PT1-HARRISON-2005 |
Fakten zur Handlungsfähigkeit
| Biomarker | BIO-CALR |
|---|---|
| Variante | Exon 9 Indels — Typ-1/Typ-1-ähnlich (52-bp-Löschen) und Typ-2/Typ-2-ähnlich (5-bP-Einführung); ~25-30% der essentiellen Thrombozytämie |
| Erkrankung | DIS-ET |
| ESCAT-Stufe | IA |
| Empfohlene Kombinationen | 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) |
| Zusammenfassung der Beweise | 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). |
Anmerkungen
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.
Verwendet von
Keine Rückverweise im YAML-Korpus gefunden.