Advanced systemic mastocytosis (AdvSM)
Deterministic view of the source YAML entity. Clinical authority remains with the cited source IDs and reviewer sign-off state.
| ID | DIS-MASTOCYTOSIS |
|---|---|
| Type | Disease |
| Aliases | ASM (aggressive systemic mastocytosis)AdvSMAdvanced systemic mastocytosisMCL (mast cell leukemia)SM-AHNПоширений системний мастоцитоз |
| Status | reviewed 2026-04-27 | pending_clinical_signoff |
| Diseases | None declared |
| Sources | SRC-ESMO-AML-2020 SRC-NCCN-AML-2025 SRC-NCCN-SM-2025 |
Informational support. All recommendations must be verified by a qualified oncologist. Engineering checks are not clinical validation or treatment approval.
| icd_o_3_morphology | 9740/3 |
|---|---|
| icd_o_3_topography | ["C42.1"] |
| icd_10 | C96.2, D47.09 |
| who_classification | WHO Hematolymphoid 5th ed (2022): Systemic mastocytosis with subtypes (ISM / SSM / SM-AHN / ASM / MCL) |
Notes
Only ADVANCED forms get targeted therapy. WHO 2022 subtypes: - Indolent SM (ISM): KIT D816V+; symptomatic management (anti-mediator: H1/H2 blockers, montelukast, cromolyn, omalizumab); avapritinib (PIONEER) in moderate-severe symptomatic ISM despite optimal anti-mediator therapy. - Smoldering SM (SSM): borderline; observe with hybrid approach. - Aggressive SM (ASM): C-findings (organ damage from mast-cell infiltration) — targeted therapy indicated. - SM with associated hematologic neoplasm (SM-AHN): ~70% of advanced SM; AHN component (most often MDS / MPN / CMML; less often AML) drives prognosis; treat both compartments. - Mast cell leukemia (MCL): ≥20% mast cells in BM aspirate; very aggressive. Therapy for ASM / SM-AHN / MCL: - Avapritinib (EXPLORER + PATHFINDER): selective KIT D816V inhibitor; FDA-approved 2021 for advanced SM. Not effective for D816V-negative. Cognitive / cerebral microbleed signal at high dose — 200 mg/day. - Midostaurin (D-RIVE): multikinase including KIT — historically standard pre-avapritinib; ORR ~28%. - SM-AHN: treat AHN per its own histology — e.g. SM-AML with 7+3 + midostaurin if FLT3-ITD also present. - Allo-HSCT: consider in fit MCL or aggressive SM-...
Used By
Actionability
BMA-KIT-D816V-MASTOCYTOSIS- KIT D816V in advanced systemic mastocytosis (AdvSM — aggressive SM, SM-AHN, mast cell leu...
Algorithms
ALGO-ADVSM-1L- ALGO-ADVSM-1L
Indication
IND-ADVSM-1L-AVAPRITINIB- IND-ADVSM-1L-AVAPRITINIBIND-ADVSM-1L-MIDOSTAURIN- IND-ADVSM-1L-MIDOSTAURIN
Questionnaires
QUEST-MASTOCYTOSIS-1L-STUB- Advanced systemic mastocytosis — first line
Red flag
RF-ADVSM-KIT-D816V- KIT D816V activating point mutation (exon 17, activation loop) in advanced systemic masto...RF-MASTOCYTOSIS-FRAILTY-AGE- Advanced systemic mastocytosis (advSM) patient with frailty: age ≥75 with ≥2 comorbiditie...RF-MASTOCYTOSIS-HIGH-RISK-BIOLOGY- Aggressive systemic mastocytosis variant by WHO 5th ed.: SM with associated hematologic n...RF-MASTOCYTOSIS-INFECTION-SCREENING- Mastocytosis pre-cytoreductive therapy infection screening: HBsAg+, anti-HCV+, HIV+, late...RF-MASTOCYTOSIS-ORGAN-DYSFUNCTION- Mastocytosis with C-finding (organ-damage) criteria per WHO 5th ed.: cytopenia (Hb <10, p...RF-MASTOCYTOSIS-TRANSFORMATION-PROGRESSION- Mastocytosis with progression to mast cell leukemia (MCL) or sarcomatous transformation:...
Sources
SRC-NCCN-SM-2025- NCCN Clinical Practice Guidelines — Systemic Mastocytosis