# Neuroblastoma

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

## Identificadores

- **ORPHA**: 635 — https://www.orpha.net/en/disease/detail/635
- **CID-10**: C74.9
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

O neuroblastoma é um tumor maligno das células da crista neural, as células que dão origem ao sistema nervoso simpático, que é observado em crianças.

## Epidemiologia e herança

- **Prevalência**: 1-5 / 10 000
- **Padrão de herança**: Not applicable

## Sinais e sintomas (34 fenótipos HPO)

- **Neuroblastoma** — HPO: HP:0003006 (Muito frequente (99-80%))
- **Perda de peso** — HPO: HP:0001824 (Frequente (79-30%))
- **Ácido homovanílico urinário elevado** — HPO: HP:0011977 (Ocasional (29-5%))
- **Aumento da concentração circulante de lactato desidrogenase** — HPO: HP:0025435 (Ocasional (29-5%))
- **Nível elevado de catecolamina circulante** — HPO: HP:0003334 (Frequente (79-30%))
- **Massa abdominal** — HPO: HP:0031500 (Frequente (79-30%))
- **Febre** — HPO: HP:0001945 (Frequente (79-30%))
- **Mioclonias** — HPO: HP:0001336 (Raro (<5%))
- **Linfadenopatia** — HPO: HP:0002716 (Frequente (79-30%))
- **Anemia** — HPO: HP:0001903 (Frequente (79-30%))
- **Ácido vanilmandélico urinário elevado** — HPO: HP:0011978 (Ocasional (29-5%))
- **Equimose periorbital com preservação da placa tarsal** — HPO: HP:0025553 (Raro (<5%))
- **Diarreia crônica** — HPO: HP:0002028 (Frequente (79-30%))
- **Compressão da medula espinhal** — HPO: HP:0002176 (Ocasional (29-5%))
- **Fadiga** — HPO: HP:0012378 (Frequente (79-30%))
- **Dor óssea** — HPO: HP:0002653 (Ocasional (29-5%))
- **Catecolaminas urinárias elevadas** — HPO: HP:0011976 (Muito frequente (99-80%))
- **Neoplasia do sistema nervoso** — HPO: HP:0004375 (Muito frequente (99-80%))
- **Palidez anêmica** — HPO: HP:0001017 (Ocasional (29-5%))
- **Marcha antálgica** — HPO: HP:0031955 (Ocasional (29-5%))
- **Proptose** — HPO: HP:0000520 (Ocasional (29-5%))
- **Ataxia** — HPO: HP:0001251 (Raro (<5%))
- **Sangramento anormal** — HPO: HP:0001892 (Ocasional (29-5%))
- **Nódulo subcutâneo** — HPO: HP:0001482 (Ocasional (29-5%))
- **Síndrome de Horner** — HPO: HP:0002277 (Ocasional (29-5%))
- **Fratura patológica** — HPO: HP:0002756 (Ocasional (29-5%))
- **Opsoclonia** — HPO: HP:0010543 (Raro (<5%))
- **Trombocitopenia** — HPO: HP:0001873 (Frequente (79-30%))
- **Aumento da concentração circulante de ferritina** — HPO: HP:0003281 (Ocasional (29-5%))
- **Hipertensão** — HPO: HP:0000822 (Raro (<5%))
- **Distensão abdominal** — HPO: HP:0003270 (Frequente (79-30%))
- **Desconforto respiratório** — HPO: HP:0002098 (Ocasional (29-5%))
- **Irritabilidade** — HPO: HP:0000737 (Ocasional (29-5%))
- **Anormalidade da coagulação** — HPO: HP:0001928 (Ocasional (29-5%))

## Genes associados (6)

- **HACE1** — E3 ubiquitin-protein ligase HACE1 [Major susceptibility factor in]
  - Função: E3 ubiquitin-protein ligase involved in Golgi membrane fusion and regulation of small GTPases (PubMed:15254018, PubMed:21988917, PubMed:22036506, PubMed:37537642, PubMed:38332367). Acts as a regulator
- **LIN28B** — Protein lin-28 homolog B [Major susceptibility factor in]
  - Função: Suppressor of microRNA (miRNA) biogenesis, including that of let-7 and possibly of miR107, miR-143 and miR-200c. Binds primary let-7 transcripts (pri-let-7), including pri-let-7g and pri-let-7a-1, and
- **MYCN** — N-myc proto-oncogene protein [Biomarker tested in]
  - Função: Positively regulates the transcription of MYCNOS in neuroblastoma cells
- **PHOX2B** — Paired mesoderm homeobox protein 2B [Major susceptibility factor in]
  - Função: Involved in the development of several major noradrenergic neuron populations, including the locus coeruleus. Transcription factor which could determine a neurotransmitter phenotype in vertebrates. En
- **LMO1** — Rhombotin-1 [Major susceptibility factor in]
  - Função: May be involved in gene regulation within neural lineage cells potentially by direct DNA binding or by binding to other transcription factors
- **ALK** — ALK tyrosine kinase receptor [Major susceptibility factor in]
  - Função: Neuronal receptor tyrosine kinase that is essentially and transiently expressed in specific regions of the central and peripheral nervous systems and plays an important role in the genesis and differe

## Ensaios clínicos ativos (36)

- **NCT01109394** [RECRUITING]: Comprehensive Omics Analysis of Pediatric and Adult Solid Tumors and Establishment of a Repository for Related Biological Studies — https://clinicaltrials.gov/study/NCT01109394
- **NCT04897321** [RECRUITING]: B7-H3-Specific Chimeric Antigen Receptor Autologous T-Cell Therapy for Pediatric Patients With Solid Tumors (3CAR) — https://clinicaltrials.gov/study/NCT04897321
- **NCT06995872** [RECRUITING]: Phase I Trial of rhIL-15 Plus Dinutuximab Plus Irinotecan/Temozolomide for Children and Young Adults With Relapsed/Refractory Neuroblastoma — https://clinicaltrials.gov/study/NCT06995872
- **NCT06721689** [RECRUITING]: PEEL-224, Vincristine and Temozolomide in Pediatric Solid Tumors — https://clinicaltrials.gov/study/NCT06721689
- **NCT06638931** [RECRUITING]: Agnostic Therapy in Rare Solid Tumors — https://clinicaltrials.gov/study/NCT06638931
- **NCT04308330** [RECRUITING]: Vorinostat in Combination With Chemotherapy in Relapsed/Refractory Solid Tumors and CNS Malignancies — https://clinicaltrials.gov/study/NCT04308330
- **NCT06607692** [RECRUITING]: Study in Children and Adolescents of 177Lu-DOTATATE (Lutathera®) Combined With the PARP Inhibitor Olaparib for the Treatment of Recurrent or Relapsed Solid Tumours Expressing Somatostatin Receptor (SSTR) (LuPARPed). — https://clinicaltrials.gov/study/NCT06607692
- **NCT06172296** [RECRUITING]: Dinutuximab With Chemotherapy, Surgery and Stem Cell Transplantation for the Treatment of Children With Newly Diagnosed High Risk Neuroblastoma — https://clinicaltrials.gov/study/NCT06172296
- **NCT01005654** [RECRUITING]: Prospective Comprehensive Molecular Analysis of Endocrine Neoplasms — https://clinicaltrials.gov/study/NCT01005654
- **NCT06465199** [RECRUITING]: Eflornithine (DFMO) and AMXT 1501 for Neuroblastoma, CNS Tumors, and Sarcomas — https://clinicaltrials.gov/study/NCT06465199

## Doenças relacionadas (por similaridade fenotípica)

- [Hemopatia mieloide](https://raras.org/doenca/hemopatia-mieloide) — ORPHA:171895 — 12 sintomas em comum
- [Alteração do metabolismo e excreção de bilirrubina](https://raras.org/doenca/alteracao-do-metabolismo-e-excrecao-de-bilirrubina) — ORPHA:309816 — 11 sintomas em comum
- [Doença mieloproliferativa crônica](https://raras.org/doenca/doenca-mieloproliferativa-cronica) — ORPHA:98274 — 11 sintomas em comum
- [Sarcoma de tecidos moles](https://raras.org/doenca/sarcoma-de-tecidos-moles) — ORPHA:3394 — 11 sintomas em comum
- [Leucemia mieloide aguda](https://raras.org/doenca/leucemia-mieloide-aguda) — ORPHA:519 — 10 sintomas em comum
- [Anemia sideroblástica](https://raras.org/doenca/anemia-sideroblastica) — ORPHA:1047 — 10 sintomas em comum
- [Linfoma maligno não-Hodgkin](https://raras.org/doenca/linfoma-maligno-nao-hodgkin) — ORPHA:547 — 10 sintomas em comum
- [Necrose avascular](https://raras.org/doenca/necrose-avascular) — ORPHA:399164 — 10 sintomas em comum
- [Lúpus eritematoso sistêmico](https://raras.org/doenca/lupus-eritematoso-sistemico) — ORPHA:536 — 10 sintomas em comum
- [Tumor raro induzido por vírus](https://raras.org/doenca/tumor-raro-induzido-por-virus) — ORPHA:289635 — 9 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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