# Mastocitose sistêmica agressiva

> Página oficial: https://raras.org/doenca/mastocitose-sistemica-agressiva
> Fonte: Raras.org — Banco de Dados de Doenças Raras em Português (CC BY-NC-SA 4.0)
> Última atualização: 2026-05-07

## Identificadores

- **ORPHA**: 98850 — https://www.orpha.net/en/disease/detail/98850
- **CID-10**: C96.2
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Mastocitose Sistêmica Agressiva (MSA) é uma forma grave e rara de mastocitose sistêmica (MS), caracterizada pelo grande acúmulo de mastócitos (um tipo de célula de defesa) em diferentes partes do corpo.

## Epidemiologia e herança

- **Prevalência**: 1-9 / 1 000 000
- **Padrão de herança**: Not applicable

## Sinais e sintomas (39 fenótipos HPO)

- **Anemia** — HPO: HP:0001903 (Ocasional (29-5%))
- **Diarreia** — HPO: HP:0002014 (Frequente (79-30%))
- **Ascite** — HPO: HP:0001541 (Ocasional (29-5%))
- **Dor abdominal** — HPO: HP:0002027 (Frequente (79-30%))
- **Prurido** — HPO: HP:0000989 (Frequente (79-30%))
- **Leucemia** — HPO: HP:0001909 (Ocasional (29-5%))
- **Rubor** — HPO: HP:0031284 (Frequente (79-30%))
- **Concentração elevada de fosfatase alcalina circulante** — HPO: HP:0003155 (Frequente (79-30%))
- **Morfologia anormal de mastócitos** — HPO: HP:0100494 (Muito frequente (99-80%))
- **Má absorção** — HPO: HP:0002024 (Frequente (79-30%))
- **Hiperesplenismo** — HPO: HP:0001971 (Ocasional (29-5%))
- **Bolhas anormais na pele** — HPO: HP:0008066 (Ocasional (29-5%))
- **Artralgia** — HPO: HP:0002829 (Frequente (79-30%))
- **Choque anafilático** — HPO: HP:0100845 (Frequente (79-30%))
- **Trombocitopenia** — HPO: HP:0001873 (Ocasional (29-5%))
- **Linfadenopatia** — HPO: HP:0002716 (Frequente (79-30%))
- **Sintoma constitucional** — HPO: HP:0025142 (Frequente (79-30%))
- **Pancitopenia** — HPO: HP:0001876 (Ocasional (29-5%))
- **Contagem total de neutrófilos diminuída** — HPO: HP:0001875 (Ocasional (29-5%))
- **Neoplasia hematológica** — HPO: HP:0004377 (Ocasional (29-5%))
- **Cãibras abdominais** — HPO: HP:0032155 (Frequente (79-30%))
- **Hemorragia gastrointestinal** — HPO: HP:0002239 (Ocasional (29-5%))
- **Perda de peso** — HPO: HP:0001824 (Frequente (79-30%))
- **Aumento da concentração sérica de beta-triptase de mastócitos** — HPO: HP:0031901 (Frequente (79-30%))
- **Hepatoesplenomegalia** — HPO: HP:0001433 (Frequente (79-30%))
- **Leucocitose** — HPO: HP:0001974 (Frequente (79-30%))
- **Morfologia anormal da pele** — HPO: HP:0011121 (Ocasional (29-5%))
- **Aumento da proporção de mastócitos CD25+** — HPO: HP:0031408 (Frequente (79-30%))
- **Função hepática diminuída** — HPO: HP:0001410 (Ocasional (29-5%))
- **Fratura patológica** — HPO: HP:0002756 (Ocasional (29-5%))
- **Urticária** — HPO: HP:0001025 (Ocasional (29-5%))
- **Hipotensão** — HPO: HP:0002615 (Frequente (79-30%))
- **Hipertensão portal** — HPO: HP:0001409 (Ocasional (29-5%))
- **Dor óssea** — HPO: HP:0002653 (Frequente (79-30%))
- **Anorexia** — HPO: HP:0002039 (Frequente (79-30%))
- **Osteoporose** — HPO: HP:0000939 (Frequente (79-30%))
- **Osteólise** — HPO: HP:0002797 (Ocasional (29-5%))
- **Fadiga** — HPO: HP:0012378 (Frequente (79-30%))
- **Exantema maculopapular** — HPO: HP:0040186 (Ocasional (29-5%))

## Genes associados (5)

- **TET2** — Methylcytosine dioxygenase TET2 [Disease-causing somatic mutation(s) in]
  - Função: Dioxygenase that catalyzes the conversion of the modified genomic base 5-methylcytosine (5mC) into 5-hydroxymethylcytosine (5hmC) and plays a key role in active DNA demethylation. Has a preference for
- **ASXL1** — Polycomb group protein ASXL1 [Disease-causing somatic mutation(s) in]
  - Função: Probable Polycomb group (PcG) protein involved in transcriptional regulation mediated by ligand-bound nuclear hormone receptors, such as retinoic acid receptors (RARs) and peroxisome proliferator-acti
- **RUNX1** — Runt-related transcription factor 1 [Disease-causing somatic mutation(s) in]
  - Função: Forms the heterodimeric complex core-binding factor (CBF) with CBFB. RUNX members modulate the transcription of their target genes through recognizing the core consensus binding sequence 5'-TGTGGT-3',
- **CBL** — E3 ubiquitin-protein ligase CBL [Disease-causing somatic mutation(s) in]
  - Função: E3 ubiquitin-protein ligase that acts as a negative regulator of many signaling pathways by mediating ubiquitination of cell surface receptors (PubMed:10514377, PubMed:11896602, PubMed:14661060, PubMe
- **SRSF2** — Serine/arginine-rich splicing factor 2 [Disease-causing somatic mutation(s) in]
  - Função: Necessary for the splicing of pre-mRNA. It is required for formation of the earliest ATP-dependent splicing complex and interacts with spliceosomal components bound to both the 5'- and 3'-splice sites

## Ensaios clínicos ativos (2)

- **NCT06748001** [RECRUITING]: Avapritinib Rollover Study — https://clinicaltrials.gov/study/NCT06748001
- **NCT04996875** [RECRUITING]: (Apex) Bezuclastinib in Patients With Advanced Systemic Mastocytosis — https://clinicaltrials.gov/study/NCT04996875
- **NCT06915766** [AVAILABLE]: Expanded Access to Bezuclastinib for Patients With NonAdvanced Systemic Mastocytosis or Advanced Systemic Mastocytosis — https://clinicaltrials.gov/study/NCT06915766
- **NCT03580655** [COMPLETED]: (PATHFINDER) Study to Evaluate Efficacy and Safety of Avapritinib (BLU-285), A Selective KIT Mutation-targeted Tyrosine Kinase Inhibitor, in Patients With Advanced Systemic Mastocytosis — https://clinicaltrials.gov/study/NCT03580655
- **NCT05609942** [TERMINATED]: Study of Elenestinib (BLU-263) in Advanced Systemic Mastocytosis (AdvSM) and and Other KIT Altered Hematologic Malignancies — https://clinicaltrials.gov/study/NCT05609942
- **NCT05219266** [NO_LONGER_AVAILABLE]: Managed Access Programs for PKC412, Midostaurin — https://clinicaltrials.gov/study/NCT05219266
- **NCT02571036** [COMPLETED]: A Safety, Tolerability and PK Study of DCC-2618 in Patients With Advanced Malignancies — https://clinicaltrials.gov/study/NCT02571036
- **NCT02561988** [COMPLETED]: (EXPLORER) Study of BLU-285 in Patients With Advanced Systemic Mastocytosis (AdvSM) and Relapsed or Refractory Myeloid Malignancies — https://clinicaltrials.gov/study/NCT02561988
- **NCT03214666** [TERMINATED]: GTB-3550 Tri-Specific Killer Engager (TriKE®) for High Risk Hematological Malignancies — https://clinicaltrials.gov/study/NCT03214666
- **NCT04695431** [COMPLETED]: Retrospective Study Assessing the Effect of Avapritinib Versus Best Available Therapy in Patients With AdvSM — https://clinicaltrials.gov/study/NCT04695431

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- [Mastocitose](https://raras.org/doenca/mastocitose) — ORPHA:98292 — 39 sintomas em comum
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- [Mastocitose sistêmica com uma doença hematológica clonal de linhagem não-mastocitária associada](https://raras.org/doenca/mastocitose-sistemica-com-uma-doenca-hematologica-clonal-de-linhagem-nao-mastocitaria-associada) — ORPHA:98849 — 17 sintomas em comum
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- [Lúpus eritematoso sistêmico](https://raras.org/doenca/lupus-eritematoso-sistemico) — ORPHA:536 — 15 sintomas em comum
- [Necrose avascular secundária](https://raras.org/doenca/necrose-avascular-secundaria) — ORPHA:399169 — 14 sintomas em comum
- [Síndrome linfoproliferativo autoimune](https://raras.org/doenca/sindrome-linfoproliferativo-autoimune) — ORPHA:3261 — 14 sintomas em comum

## Importante

O Raras **não diagnostica e não prescreve**. Esta página é educativa e informativa.
Pacientes devem consultar profissionais de saúde qualificados para decisões clínicas.

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**Citação sugerida**: Raras.org — Mastocitose sistêmica agressiva. Disponível em: https://raras.org/doenca/mastocitose-sistemica-agressiva
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