Mastocitose sistémica avançada (AdvSM)

Visão determinística da entidade fonte YAML. A autoridade clínica permanece com os IDs de fonte citados e estado de assinatura do revisor.

ID	`DIS-MASTOCYTOSIS`
Tipo	Doença
Alegais	ASM (mastocitose sistémica agressiva)AdvSMMastocitose sistémica avançadaMCL (leucemia de células másticas)SM-AHNПоширений системний мастоцитоз
Estado	reviewed 2026-04-27 \| pending_clinical_signoff
Doenças	Nenhuma declaração
Fontes	`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.

Fonte YAML

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)

Capacidades

Notas

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-...

Usado por

Relevância terapêutica

BMA-KIT-D816V-MASTOCYTOSIS - KIT D816V em mastocitose sistêmica avançada (AdvSM — SM agressivo, SM-AHN, mastocitose...

Algoritmos

ALGO-ADVSM-1L - ALGO-ADVSM-1L

Indicação

IND-ADVSM-1L-AVAPRITINIB - IND-ADVSM-1L-AVAPRITINIB
IND-ADVSM-1L-MIDOSTAURIN - IND-ADVSM-1L-MIDOSTAURIN

Questionários

QUEST-MASTOCYTOSIS-1L-STUB - Mastocitose sistémica avançada — primeira linha

Sinal de alerta

RF-ADVSM-KIT-D816V - KIT D816V ativando mutação de ponto (exon 17, loop de ativação) em masto sistémico avançado...
RF-MASTOCYTOSIS-FRAILTY-AGE - Doente com mastocitose sistémica avançada (MSv) com fragilidade: idade ≥75 com ≥2...
RF-MASTOCYTOSIS-HIGH-RISK-BIOLOGY - Aggressive systemic mastocytosis variant by WHO 5th ed.: SM with associated hematologic n...
RF-MASTOCYTOSIS-INFECTION-SCREENING - Mastocitose pré-citoredutor de infecção de terapia triagem: HBsAg+, anti-HCV+, HIV+, tardio...
RF-MASTOCYTOSIS-ORGAN-DYSFUNCTION - Mastocytosis with C-finding (organ-damage) criteria per WHO 5th ed.: cytopenia (Hb <10, p...
RF-MASTOCYTOSIS-TRANSFORMATION-PROGRESSION - Mastocitose com progressão para leucemia mastocelular (LCM) ou transformação sarcomatosa:...

Fontes

SRC-NCCN-SM-2025 - Directrizes de Prática Clínica NCCN - Mastocitose Sistémica