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

Treatment of Aggressive Systemic Mastocytosis with KIT D816V Mutation

This protocol addresses the management of aggressive systemic mastocytosis (ASM) in patients carrying the KIT D816V mutation — a specific clinical scenario characterised by advanced, organ-threatening disease and a defined molecular driver.

Clinical Scenario

Aggressive systemic mastocytosis with a KIT D816V mutation represents an advanced form of the disease. In this setting, the presence of C-findings — as defined under the 2022 WHO classification — signals significant organ dysfunction driven by mast cell burden.

Patients with advanced systemic mastocytosis in this context frequently require cytoreductive therapy directed at mast cells in order to reverse disease-related organ dysfunction.

Treatment Approach

For select patients with aggressive systemic mastocytosis and KIT D816V mutation, a transplant-based strategy may be considered as part of the overall management plan. The complete protocol — including the specific approach, eligibility considerations, and sequencing — is available via the structured regimen below.

Instant Access to Structured Evidence-Based Regimens

References

DOI: 10.1002/ajh.26962

Patients with advanced SM frequently need MC cytoreductive therapy to reverse disease-related organ dysfunction.

ASM is characterized by one or more C-findings (Table 5); of note, the definition of C-findings has undergone revision in the 2022 WHO classification.

Allogeneic stem cell transplant (ASCT) can prolong overall and progression-free survival in select SM patients, although the overall experience is heavily skewed toward SM-AMN patients, and the utility of ASCT in the modern KIT inhibitor era remains to be defined.

Other potential candidates include ASM patients with relapsed/refractory disease or those with "acute MCL."

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