CALR exon 9 indels são o segundo motorista mais comum em PMF (~25%) e um WHO 2022 / ICC 2...
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| ID | BMA-CALR-PMF |
|---|---|
| Tipo | Relevância terapêutica |
| Estado | reviewed 2026-04-27 | pending_clinical_signoff | actionability review required |
| Doenças | DIS-PMF |
| Fontes | SRC-CIVIC SRC-COMFORT-I-VERSTOVSEK-2012 SRC-DIPSS-PLUS-GANGAT-2011 SRC-ESMO-MPN-2015 SRC-JAKARTA2-HARRISON-2017 SRC-MOMENTUM-VERSTOVSEK-2023 SRC-NCCN-MPN-2025 |
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-bP inserção); ~25% da mielofibrose primária |
| Doença | DIS-PMF |
| Nível ESCAT | IA |
| Combinações recomendadas | ruxolitinib monotherapy (intermediate-2 / high-risk per SRC-COMFORT-I-VERSTOVSEK-2012), fedratinib monotherapy (post-ruxolitinib failure per SRC-JAKARTA2-HARRISON-2017), momelotinib monotherapy (MF + anemia per SRC-MOMENTUM-VERSTOVSEK-2023), allogeneic HCT (transplant-eligible higher-risk per SRC-NCCN-MPN-2025, SRC-DIPSS-PLUS-GANGAT-2011) |
| Resumo das provas | CALR exon 9 indels are the second most common driver in PMF (~25%) and a WHO 2022 / ICC 2022 major diagnostic criterion in JAK2/MPL- negative cases (per SRC-NCCN-MPN-2025, SRC-ESMO-MPN-2015). CALR type-1 mutation in PMF is associated with better OS and lower leukemic transformation risk than JAK2 V617F or triple-negative PMF, integrated into MIPSS70+v2 risk model. Treatment is genotype- agnostic JAK-inhibitor therapy by symptom / risk score: ruxolitinib for symptomatic intermediate-2/high-risk (COMFORT-I extends to all driver genotypes); fedratinib for ruxolitinib failure (JAKARTA2); momelotinib for anemic patients (MOMENTUM); allogeneic HCT for transplant-eligible higher-risk patients per SRC-NCCN-MPN-2025. |
Notas
ESCAT IA / OncoKB Level 1 — diagnostic criterion + risk stratifier (favorable in MIPSS70+v2 when type-1). JAK inhibitors are mutation- agnostic (downstream JAK-STAT inhibition). Source-gap: SRC-NCCN-MPN-2025 STUB.
Usado por
Não há referências reversas encontradas no corpus YAML.