# Doença mieloproliferativa crônica

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

## Identificadores

- **ORPHA**: 98274 — https://www.orpha.net/en/disease/detail/98274
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Distúrbio clonal de células-tronco hematopoéticas, caracterizado pela proliferação na medula óssea de uma ou mais linhagens mieloides (isto é, granulocíticas, eritróides, megacariocíticas e mastócitos). É principalmente uma neoplasia de adultos. (OMS 2008)

## Epidemiologia e herança

- **Prevalência**: 1-9 / 100 000

## Sinais e sintomas (144 fenótipos HPO)

- **Hipertensão** — HPO: HP:0000822
- **Sintoma constitucional** — HPO: HP:0025142
- **Hepatoesplenomegalia** — HPO: HP:0001433
- **Fadiga fácil** — HPO: HP:0003388
- **Neoplasia hematológica** — HPO: HP:0004377
- **Caquexia** — HPO: HP:0004326
- **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
- **Positividade de autoanticorpos** — HPO: HP:0030057
- **Hemangioma** — HPO: HP:0001028
- **Dor no flanco** — HPO: HP:0030157
- **Febre baixa** — HPO: HP:0011134
- **Poiquilocitose** — HPO: HP:0004447
- **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
- **Gangrena** — HPO: HP:0100758
- **Anormalidade dos basófilos** — HPO: HP:0001912
- **Anormalidade do sangue e tecidos hematopoiéticos** — HPO: HP:0001871
- **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
- **Nódulo subcutâneo** — HPO: HP:0001482
- **Dispneia** — HPO: HP:0002094
- **Oligúria** — HPO: HP:0100520
- **Estomatite** — HPO: HP:0010280
- **Contagem total de neutrófilos diminuída** — HPO: HP:0001875
- **Coagulação intravascular disseminada** — HPO: HP:0005521
- **Anormalidade dos granulócitos** — HPO: HP:0001911
- **Edema periorbital** — HPO: HP:0100539
- **Edema do tornozelo** — HPO: HP:0001785
- **Equimose** — HPO: HP:0031364
- **Infecção crônica** — HPO: HP:0031035
- **Hipotireoidismo central** — HPO: HP:0011787
- _...e mais 104 sintomas. Ver https://raras.org/doenca/doenca-mieloproliferativa-cronica._

## Genes associados (51)

- **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
- **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
- **MRTFA** — Myocardin-related transcription factor A [Candidate gene tested in]
  - Função: Transcription coactivator that associates with the serum response factor (SRF) transcription factor to control expression of genes regulating the cytoskeleton during development, morphogenesis and cel
- **STAT5B** — Signal transducer and activator of transcription 5B [Candidate gene tested in]
  - Função: Carries out a dual function: signal transduction and activation of transcription (PubMed:29844444). Mediates cellular responses to the cytokine KITLG/SCF and other growth factors. Binds to the GAS ele
- **RUNX1T1** — Protein CBFA2T1 [Candidate gene tested in]
  - Função: Transcriptional corepressor which facilitates transcriptional repression via its association with DNA-binding transcription factors and recruitment of other corepressors and histone-modifying enzymes
- **CBFB** — Core-binding factor subunit beta [Candidate gene tested in]
  - Função: Forms the heterodimeric complex core-binding factor (CBF) with RUNX family proteins (RUNX1, RUNX2, and RUNX3). RUNX members modulate the transcription of their target genes through recognizing the cor
- **MYH11** — Myosin-11 [Candidate gene tested in]
  - Função: Muscle contraction
- **BCOR** — BCL-6 corepressor [Candidate gene tested in]
  - Função: Transcriptional corepressor. May specifically inhibit gene expression when recruited to promoter regions by sequence-specific DNA-binding proteins such as BCL6 and MLLT3. This repression may be mediat
- **TGM6** — Protein-glutamine gamma-glutamyltransferase 6 [Candidate gene tested in]
  - Função: Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins
- **RBM15** — RNA-binding protein 15 [Candidate gene tested in]
  - Função: RNA-binding protein that acts as a key regulator of N6-methyladenosine (m6A) methylation of RNAs, thereby regulating different processes, such as hematopoietic cell homeostasis, alternative splicing o
- **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

## Ensaios clínicos ativos (15)

- **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
- **NCT06034002** [RECRUITING]: A Study to Evaluate INCA033989 Administered as a Monotherapy or in Combination With Ruxolitinib in Participants With Myeloproliferative Neoplasms — https://clinicaltrials.gov/study/NCT06034002
- **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
- **NCT04140487** [RECRUITING]: Azacitidine, Venetoclax, and Gilteritinib in Treating Patients With Recurrent/Refractory FLT3-Mutated Acute Myeloid Leukemia, Chronic Myelomonocytic Leukemia, or High-Risk Myelodysplastic Syndrome/Myeloproliferative Neoplasm — https://clinicaltrials.gov/study/NCT04140487
- **NCT04493138** [RECRUITING]: Azacitidine and Quizartinib for the Treatment of Myelodysplastic Syndrome or Myelodysplastic/Myeloproliferative Neoplasm With FLT3 or CBL Mutations — https://clinicaltrials.gov/study/NCT04493138
- **NCT06597734** [RECRUITING]: A Phase 2 Study Evaluating Olutasidenib in Combination With Hypomethylating Agents in Patients With IDH1-mutated Higher-risk Myelodysplastic Syndromes, Chronic Myelomonocytic Leukemia, or Advanced Myeloproliferative Neoplasm — https://clinicaltrials.gov/study/NCT06597734
- **NCT07441694** [RECRUITING]: Study of INCA036978 in Participants With Myeloproliferative Neoplasms — https://clinicaltrials.gov/study/NCT07441694
- **NCT05850273** [RECRUITING]: Mechanism of Action of Interferon in the Treatment of Myeloproliferative Neoplasms — https://clinicaltrials.gov/study/NCT05850273
- **NCT04771130** [RECRUITING]: A Study of BGB-11417 in Participants With Myeloid Malignancies — https://clinicaltrials.gov/study/NCT04771130
- **NCT05177211** [ACTIVE_NOT_RECRUITING]: Fedratinib in Myelodysplastic /Myeloproliferative Neoplasms (MDS/MPNs) and Chronic Neutrophilic Leukemia (CNL) — https://clinicaltrials.gov/study/NCT05177211

## Doenças relacionadas (por similaridade fenotípica)

- [Hemopatia mieloide](https://raras.org/doenca/hemopatia-mieloide) — ORPHA:171895 — 144 sintomas em comum
- [Leucemia mieloide aguda](https://raras.org/doenca/leucemia-mieloide-aguda) — ORPHA:519 — 69 sintomas em comum
- [Aplasia constitucional medular do adulto](https://raras.org/doenca/aplasia-constitucional-medular-do-adulto) — ORPHA:164823 — 53 sintomas em comum
- [Policitemia](https://raras.org/doenca/policitemia) — ORPHA:98427 — 50 sintomas em comum
- [Policitemia vera](https://raras.org/doenca/729) — ORPHA:729 — 44 sintomas em comum
- [Mielofibrose com metaplasia mieloide](https://raras.org/doenca/824) — ORPHA:824 — 39 sintomas em comum
- [Leucemia promielocítica aguda](https://raras.org/doenca/520) — ORPHA:520 — 38 sintomas em comum
- [Síndromes mielodisplásicos](https://raras.org/doenca/sindromes-mielodisplasicos) — ORPHA:52688 — 32 sintomas em comum
- [Mastocitose](https://raras.org/doenca/mastocitose) — ORPHA:98292 — 32 sintomas em comum
- [Miopatia e fasciite inflamatórias adquiridas](https://raras.org/doenca/miopatia-e-fasciite-inflamatorias-adquiridas) — ORPHA:98482 — 31 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 — Doença mieloproliferativa crônica. Disponível em: https://raras.org/doenca/doenca-mieloproliferativa-cronica
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