# Leucemia mieloide aguda

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

## Identificadores

- **ORPHA**: 519 — https://www.orpha.net/en/disease/detail/519
- **CID-10**: C92.0
- **OMIM**: OMIM:601626 — https://omim.org/entry/601626

## Descrição clínica

A leucemia mieloide aguda (LMA) é um grupo de neoplasias decorrentes de células precursoras comprometidas com a diferenciação da linha celular mieloide. Todos eles são caracterizados pela expansão clonal de blastos mieloides. A LMA manifesta-se por febre, palidez, anemia, hemorragias e infecções recorrentes.

## Epidemiologia e herança

- **Prevalência**: 1-5 / 10 000

## Sinais e sintomas (71 fenótipos HPO)

- **Nódulo subcutâneo** — HPO: HP:0001482
- **Herança autossômica dominante** — HPO: HP:0000006
- **HP:0001442** — HPO: HP:0001442
- **Aumento da contagem de micromegacariócitos** — HPO: HP:0031386
- **Hipolobulação do núcleo megacariocítico** — HPO: HP:0031385
- **Leucemia mielomonocítica aguda** — HPO: HP:0004820
- **Morfologia anormal de megacariócitos** — HPO: HP:0012143
- **Dor lombar** — HPO: HP:0003419
- **Anormalidade das células estromais da medula óssea** — HPO: HP:0012129
- **Mielofibrose** — HPO: HP:0011974
- **Esplenomegalia** — HPO: HP:0001744
- **Morfologia anormal do proeritroblasto** — HPO: HP:0025035
- **Anemia refratária com sideroblastos em anel** — HPO: HP:0004828
- **Hipocelularidade da medula óssea** — HPO: HP:0005528
- **Anormalidade da gengiva** — HPO: HP:0000168
- **Palidez** — HPO: HP:0000980
- **Gangrena** — HPO: HP:0100758
- **Aumento da concentração circulante de lactato desidrogenase** — HPO: HP:0025435
- **Linfadenopatia cervical** — HPO: HP:0025289
- **Anormalidade de múltiplas linhagens celulares na medula óssea** — HPO: HP:0012145
- **Deficiência auditiva progressiva** — HPO: HP:0001730
- **Início na idade adulta** — HPO: HP:0003581
- **Morfologia anormal da célula granulocitopoética** — HPO: HP:0012135
- **Leucemia promielocítica aguda** — HPO: HP:0004836
- **Leucemia mieloide aguda** — HPO: HP:0004808
- **Anemia** — HPO: HP:0001903
- **Leucemia monocítica aguda** — HPO: HP:0004845
- **Petéquias** — HPO: HP:0000967
- **Fraqueza muscular** — HPO: HP:0001324
- **Leucocitose** — HPO: HP:0001974
- **Hipofibrinogenemia** — HPO: HP:0011900
- **Hemorragia alveolar difusa** — HPO: HP:0025420
- **Sangramento da cavidade oral** — HPO: HP:0030140
- **Pancitopenia** — HPO: HP:0001876
- **Proteinemia monoclonal de imunoglobulina M** — HPO: HP:0005508
- **Hipoplasia eritroide** — HPO: HP:0012133
- **Febre** — HPO: HP:0001945
- **Anorexia** — HPO: HP:0002039
- **Fadiga** — HPO: HP:0012378
- **Hematúria** — HPO: HP:0000790
- _...e mais 31 sintomas. Ver https://raras.org/doenca/leucemia-mieloide-aguda._

## Genes associados (48)

- **MLLT10** — Protein AF-10 [Disease-causing germline mutation(s) in]
  - Função: Probably involved in transcriptional regulation. In vitro or as fusion protein with KMT2A/MLL1 has transactivation activity. Binds to cruciform DNA. In cells, binding to unmodified histone H3 regulate
- **TERT** — Telomerase reverse transcriptase [POLYGENIC]
  - Função: Telomerase is a ribonucleoprotein enzyme essential for the replication of chromosome termini in most eukaryotes. Active in progenitor and cancer cells. Inactive, or very low activity, in normal somati
- **GATA2** — Endothelial transcription factor GATA-2 [POLYGENIC]
  - Função: Transcriptional activator which regulates endothelin-1 gene expression in endothelial cells. Binds to the consensus sequence 5'-AGATAG-3'
- **SH3GL1** [MENDELIAN]
  - Função: Implicated in endocytosis. May recruit other proteins to membranes with high curvature (By similarity)
- **CHIC2** [POLYGENIC]
- **AFF1** — AF4/FMR2 family member 1 [Candidate gene tested in]
- **GLIS2** — Zinc finger protein GLIS2 [Candidate gene tested in]
  - Função: Can act either as a transcriptional repressor or as a transcriptional activator, depending on the cell context. Acts as a repressor of the Hedgehog signaling pathway (By similarity). Represses the Hed
- **IDH2** — Isocitrate dehydrogenase [NADP], mitochondrial [Candidate gene tested in]
  - Função: Plays a role in intermediary metabolism and energy production (PubMed:19228619, PubMed:22416140). It may tightly associate or interact with the pyruvate dehydrogenase complex (PubMed:19228619, PubMed:
- **IRF2BP2** — Interferon regulatory factor 2-binding protein 2 [Candidate gene tested in]
  - Função: Acts as a transcriptional corepressor in a IRF2-dependent manner; this repression is not mediated by histone deacetylase activities (PubMed:12799427). Represses the NFAT1-dependent transactivation of
- **MLLT3** — Protein AF-9 [Candidate gene tested in]
  - Função: Chromatin reader component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymeras
- **RPN1** — Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 1 [Candidate gene tested in]
  - Função: Subunit of the oligosaccharyl transferase (OST) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol-pyrophosphate to a
- **DEK** — Protein DEK [Candidate gene tested in]
  - Função: Involved in chromatin organization
- **TBL1XR1** — F-box-like/WD repeat-containing protein TBL1XR1 [Candidate gene tested in]
  - Função: F-box-like protein involved in the recruitment of the ubiquitin/19S proteasome complex to nuclear receptor-regulated transcription units. Plays an essential role in transcription activation mediated b
- **NABP1** — SOSS complex subunit B2 [Candidate gene tested in]
  - Função: Component of the SOSS complex, a multiprotein complex that functions downstream of the MRN complex to promote DNA repair and G2/M checkpoint. In the SOSS complex, acts as a sensor of single-stranded D
- **PML** — Protein PML [Candidate gene tested in]
  - Função: Functions via its association with PML-nuclear bodies (PML-NBs) in a wide range of important cellular processes, including tumor suppression, transcriptional regulation, apoptosis, senescence, DNA dam

## Ensaios clínicos ativos (43)

- **NCT04628026** [RECRUITING]: Phase III Study of Induction and Consolidation Chemotherapy With Venetoclax in Patients With Newly Diagnosed AML or MDS-EB-2 — https://clinicaltrials.gov/study/NCT04628026
- **NCT03188874** [RECRUITING]: Clinical AML Registry and Biomaterial Database of the Study Alliance Leukemia (SAL) — https://clinicaltrials.gov/study/NCT03188874
- **NCT06904066** [RECRUITING]: Autologous T Cells Transduced With Retroviral Vectors Expressing TCRs for Participant-specific Neoantigens in Patients With Hematologic Malignancies — https://clinicaltrials.gov/study/NCT06904066
- **NCT04067336** [RECRUITING]: First in Human Study of Ziftomenib in Relapsed or Refractory Acute Myeloid Leukemia — https://clinicaltrials.gov/study/NCT04067336
- **NCT05564390** [RECRUITING]: MYELOMATCH: A Screening Study to Assign People With Myeloid Cancer to a Treatment Study or Standard of Care Treatment Within myeloMATCH (MyeloMATCH Screening Trial) — https://clinicaltrials.gov/study/NCT05564390
- **NCT02390752** [RECRUITING]: Phase I Trial of TURALIO(R) (Pexidartinib, PLX3397) in Children and Young Adults With Refractory Leukemias and Refractory Solid Tumors Including Neurofibromatosis Type 1 (NF1) Associated Plexiform Neurofibromas (PN) and Tenosynovial Giant Cell Tumor ... — https://clinicaltrials.gov/study/NCT02390752
- **NCT06247787** [RECRUITING]: A Study to Find the Highest Dose of Imetelstat in Combination With Fludarabine and Cytarabine for Patients With AML, MDS or JMML That Has Come Back or Does Not Respond to Therapy — https://clinicaltrials.gov/study/NCT06247787
- **NCT07537738** [RECRUITING]: Leukemia Stem Cell-based Assay to Predict Relapse and Survival in Patients With Acute Myeloid Leukemia — https://clinicaltrials.gov/study/NCT07537738
- **NCT05554406** [RECRUITING]: Testing the Effects of Novel Therapeutics for Newly Diagnosed, Untreated Patients With High-Risk Acute Myeloid Leukemia (A MyeloMATCH Treatment Trial) — https://clinicaltrials.gov/study/NCT05554406
- **NCT04797767** [RECRUITING]: Venetoclax and CLAG-M for the Treatment of Acute Myeloid Leukemia and High-Grade Myeloid Neoplasms — https://clinicaltrials.gov/study/NCT04797767

## Doenças relacionadas (por similaridade fenotípica)

- [Hemopatia mieloide](https://raras.org/doenca/hemopatia-mieloide) — ORPHA:171895 — 69 sintomas em comum
- [Doença mieloproliferativa crônica](https://raras.org/doenca/doenca-mieloproliferativa-cronica) — ORPHA:98274 — 69 sintomas em comum
- [Leucemia promielocítica aguda](https://raras.org/doenca/520) — ORPHA:520 — 39 sintomas em comum
- [Leucemia aguda mieloide não classificada](https://raras.org/doenca/leucemia-aguda-mieloide-nao-classificada) — ORPHA:167714 — 29 sintomas em comum
- [Síndromes mielodisplásicos](https://raras.org/doenca/sindromes-mielodisplasicos) — ORPHA:52688 — 28 sintomas em comum
- [Aplasia constitucional medular do adulto](https://raras.org/doenca/aplasia-constitucional-medular-do-adulto) — ORPHA:164823 — 22 sintomas em comum
- [Leucemia monoblástica aguda](https://raras.org/doenca/514) — ORPHA:514 — 22 sintomas em comum
- [Lúpus eritematoso sistêmico](https://raras.org/doenca/lupus-eritematoso-sistemico) — ORPHA:536 — 20 sintomas em comum
- [Mielofibrose com metaplasia mieloide](https://raras.org/doenca/824) — ORPHA:824 — 19 sintomas em comum
- [Mastocitose](https://raras.org/doenca/mastocitose) — ORPHA:98292 — 19 sintomas em comum

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Pacientes devem consultar profissionais de saúde qualificados para decisões clínicas.

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