# Leucemia mieloide aguda hereditária

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

## Identificadores

- **ORPHA**: 319465 — https://www.orpha.net/en/disease/detail/319465
- **CID-10**: C92.0
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Um caso de leucemia mieloide aguda causada por uma modificação hereditária do genoma do indivíduo.

## Epidemiologia e herança


## Genes associados (6)

- **CEBPA** — CCAAT/enhancer-binding protein alpha [Disease-causing germline mutation(s) in]
  - Função: Transcription factor that coordinates proliferation arrest and the differentiation of myeloid progenitors, adipocytes, hepatocytes, and cells of the lung and the placenta. Binds directly to the consen
- **TGM6** — Protein-glutamine gamma-glutamyltransferase 6 [Disease-causing germline mutation(s) in]
  - Função: Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins
- **ERCC6L2** — DNA excision repair protein ERCC-6-like 2 [Disease-causing germline mutation(s) in]
  - Função: Promotes double-strand break (DSB) end-joining and facilitates programmed recombination by controlling how DNA ends are joined in a spatially oriented manner during repair (By similarity). Also plays
- **KMT2A** — Histone-lysine N-methyltransferase 2A [Candidate gene tested in]
  - Função: Histone methyltransferase that plays an essential role in early development and hematopoiesis (PubMed:12453419, PubMed:15960975, PubMed:19187761, PubMed:19556245, PubMed:20677832, PubMed:21220120, Pub
- **FLT3** — Receptor-type tyrosine-protein kinase FLT3 [Candidate gene tested in]
  - Função: Tyrosine-protein kinase that acts as a cell-surface receptor for the cytokine FLT3LG and regulates differentiation, proliferation and survival of hematopoietic progenitor cells and of dendritic cells.
- **AFF1** — AF4/FMR2 family member 1 [Candidate gene tested in]

## Ensaios clínicos ativos (5)

- **NCT01522976** [ACTIVE_NOT_RECRUITING]: Azacitidine With or Without Lenalidomide or Vorinostat in Treating Patients With Higher-Risk Myelodysplastic Syndromes or Chronic Myelomonocytic Leukemia — https://clinicaltrials.gov/study/NCT01522976
- **NCT04902833** [ACTIVE_NOT_RECRUITING]: Acquired Pyruvate Kinase Deficiency In Clonal Myeloid Neoplasms — https://clinicaltrials.gov/study/NCT04902833
- **NCT05796570** [RECRUITING]: A Pilot Study to Evaluate the Feasibility of Post-Hematopoietic Stem Cell Transplant Prophylaxis With Decitabine Combined With Filgrastim for Children and Young Adults With AML, MDS and Related Myeloid Malignancies — https://clinicaltrials.gov/study/NCT05796570
- **NCT04278768** [SUSPENDED]: Dose Escalation/ Expansion Study of CA-4948 as Monotherapy in Patients With Acute Myelogenous Leukemia (AML) or Myelodysplastic Syndrome (MDS) — https://clinicaltrials.gov/study/NCT04278768
- **NCT02386800** [ACTIVE_NOT_RECRUITING]: CINC424A2X01B Rollover Protocol — https://clinicaltrials.gov/study/NCT02386800

## 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 — Leucemia mieloide aguda hereditária. Disponível em: https://raras.org/doenca/leucemia-mieloide-aguda-hereditaria
**Formato HTML**: https://raras.org/doenca/leucemia-mieloide-aguda-hereditaria
**Formato RDF/Turtle**: https://raras.org/api/rdf?orpha=319465