Mastocitosis sistémica avanzada (AdvSM)
Vista determinista de la entidad fuente YAML. La autoridad clínica sigue con los ID de fuente citados y estado de firma del revisor.
| ID | DIS-MASTOCYTOSIS |
|---|---|
| Tipo | Enfermedad |
| Aliaces | ASM (mastocitosis sistémica agresiva)AdvSMMastocitosis sistémica avanzadaMCL (leucemia de células mástiles)SM-AHNПоширений системний мастоцитоз |
| Situación | reviewed 2026-04-27 | pending_clinical_signoff |
| Enfermedades | Ninguna declarada |
| Fuentes | 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) |
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-...
Utilizado por
Relevancia terapéutica
BMA-KIT-D816V-MASTOCYTOSIS- KIT D816V en mastocitosis sistémica avanzada (AdvSM — agresivo SM, SM-AHN, mastocitosis...
Algoritmos
ALGO-ADVSM-1L- ALGO-ADVSM-1L
Indicación
IND-ADVSM-1L-AVAPRITINIB- IND-ADVSM-1L-AVAPRITINIBIND-ADVSM-1L-MIDOSTAURIN- IND-ADVSM-1L-MIDOSTAURIN
Cuestionarios
QUEST-MASTOCYTOSIS-1L-STUB- Mastocitosis sistémica avanzada — primera línea
Señal de alerta
RF-ADVSM-KIT-D816V- KIT D816V activando la mutación del punto (exón 17, bucle de activación) en masto sistémico avanzado...RF-MASTOCYTOSIS-FRAILTY-AGE- Paciente avanzado con mastocitosis sistémica (MSv) con fragilidad: edad ≥75 con ≥2 comorbiditi...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- Mastocitosis con progresión a leucemia mastocítica (LCM) o transformación sarcomatosa:...
Fuentes
SRC-NCCN-SM-2025- Directrices de Práctica Clínica NCCN — Mastocitosis Sistémica