Systemic mastocytosis
ICD-10 D47.0 · ICD-11 2A21.0

Systemic Mastocytosis with Mast Cell Leukemia and KIT D816V Mutation — Treatment After First-Line Failure

This protocol addresses patients with systemic mastocytosis presenting as mast cell leukemia (MCL) driven by the KIT D816V mutation, in whom first-line therapy has not achieved adequate disease control.

Clinical scenario

Mast cell leukemia with the KIT D816V mutation represents an aggressive presentation of systemic mastocytosis. The c-KIT D816V driver mutation shapes both the disease course and the selection of therapeutic approaches across treatment lines.

First-line treatment — goals not achieved

When prior therapy with avapritinib or midostaurin has failed to produce reversion of disease-related organ damage and a marked decrease in bone marrow mast cell burden, escalation to a next-line approach is indicated.

Next-line treatment approach

In this salvage setting, a nucleoside analogue with demonstrated activity across systemic mastocytosis subtypes — including mast cell leukemia — is employed. The agent is delivered intravenously over repeated treatment cycles. Full regimen details, including sequencing and clinical criteria, are available via the link below.

Instant Access to Structured Evidence-Based Regimens

References

DOI: 10.1002/ajh.26962

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