Mastocytose systémique avancée (AdvSM)

Vue déterministe de l'entité source de la LJAM. L'autorité clinique demeure avec les ID de la source cités et l'état d'approbation de l ́examinateur.

ID	`DIS-MASTOCYTOSIS`
Type	Maladie
Alias	MSA (mastocytose systémique agressive)A.V.SMMastocytose systémique avancéeMCL (leucémie cellulaire mast)SM-AHNПоширений системний мастоцитоз
État	reviewed 2026-04-27 \| pending_clinical_signoff
Maladies	Aucune déclaration
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.

Source 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)

Capacités

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-...

Utilisé par

Pertinence thérapeutique

BMA-KIT-D816V-MASTOCYTOSIS - KIT D816V dans la mastocytose systémique avancée (AdvSM — SM agressif, SM-AHN, mastocytose...

Algorithmes

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

Indication

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

Questionnaires

QUEST-MASTOCYTOSIS-1L-STUB - Mastocytose systémique avancée — première ligne

Signal d’alerte

RF-ADVSM-KIT-D816V - KIT D816V activant la mutation du point (exon 17, boucle d'activation) dans un masto système avancé...
RF-MASTOCYTOSIS-FRAILTY-AGE - Patient avancé de la mastocytose systémique (MSv) présentant une fragilité : âge ≥ 75 avec ≥ 2...
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 - Mastocytose avec progression vers la leucémie des mastocytes (LCM) ou transformation sarcomateuse:...

Sources

SRC-NCCN-SM-2025 - Lignes directrices de pratique clinique du NCCN — Mastocytose systémique