# Tumor neuroectodérmico primitivo periférico

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

## Identificadores

- **ORPHA**: 370348 — https://www.orpha.net/en/disease/detail/370348
- **CID-10**: C71.9
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Pequeno tumor de células redondas com diferenciação neural originado de tecidos moles ou ossos.

## Epidemiologia e herança

- **Prevalência**: Unknown
- **Padrão de herança**: Not applicable

## Sinais e sintomas (37 fenótipos HPO)

- **Dor em membro superior** — HPO: HP:0012513 (Ocasional (29-5%))
- **Prurido** — HPO: HP:0000989 (Ocasional (29-5%))
- **Neoplasia do escroto** — HPO: HP:0100849 (Raro (<5%))
- **Proptose** — HPO: HP:0000520 (Raro (<5%))
- **Pancreatite** — HPO: HP:0001733 (Ocasional (29-5%))
- **Neoplasia cerebral** — HPO: HP:0030692 (Ocasional (29-5%))
- **Neoplasia ovariana** — HPO: HP:0100615 (Ocasional (29-5%))
- **Ascite** — HPO: HP:0001541 (Ocasional (29-5%))
- **Dor abdominal episódica** — HPO: HP:0002574 (Ocasional (29-5%))
- **Perda de peso** — HPO: HP:0001824 (Ocasional (29-5%))
- **Icterícia** — HPO: HP:0000952 (Ocasional (29-5%))
- **Cefaleia** — HPO: HP:0002315 (Ocasional (29-5%))
- **Aumento da concentração circulante de lactato desidrogenase** — HPO: HP:0025435 (Raro (<5%))
- **Tumor da medula espinhal** — HPO: HP:0010302 (Ocasional (29-5%))
- **Sangramento anormal** — HPO: HP:0001892 (Ocasional (29-5%))
- **Náusea e vômito** — HPO: HP:0002017 (Ocasional (29-5%))
- **Puberdade precoce** — HPO: HP:0000826 (Raro (<5%))
- **Nível elevado de antígeno de carcinoma 125** — HPO: HP:0031030 (Ocasional (29-5%))
- **Anormalidade do couro cabeludo** — HPO: HP:0001965 (Ocasional (29-5%))
- **Anormalidade da coluna torácica** — HPO: HP:0100711 (Ocasional (29-5%))
- **Alfa-fetoproteína elevada** — HPO: HP:0006254 (Raro (<5%))
- **Distensão abdominal** — HPO: HP:0003270 (Ocasional (29-5%))
- **Convulsão** — HPO: HP:0001250 (Ocasional (29-5%))
- **Vertigem** — HPO: HP:0002321 (Ocasional (29-5%))
- **Neoplasia uterina** — HPO: HP:0010784 (Ocasional (29-5%))
- **Hiporreflexia** — HPO: HP:0001265 (Ocasional (29-5%))
- **Dor nas costas** — HPO: HP:0003418 (Ocasional (29-5%))
- **Anorexia** — HPO: HP:0002039 (Ocasional (29-5%))
- **Anormalidade do pedúnculo cerebelar superior** — HPO: HP:0011932 (Raro (<5%))
- **Metrorragia** — HPO: HP:0100608 (Ocasional (29-5%))
- **Anemia** — HPO: HP:0001903 (Ocasional (29-5%))
- **Neoplasia do pâncreas** — HPO: HP:0002894 (Ocasional (29-5%))
- **Massa pélvica** — HPO: HP:0031501 (Ocasional (29-5%))
- **Fraqueza muscular do membro inferior** — HPO: HP:0007340 (Ocasional (29-5%))
- **Disfunção somatossensorial** — HPO: HP:0003474 (Ocasional (29-5%))
- **Neoplasia neuroectodérmica primitiva periférica** — HPO: HP:0030067
- **Torcicolo** — HPO: HP:0000473 (Ocasional (29-5%))

## Genes associados (1)

- **FLI1** — Friend leukemia integration 1 transcription factor [Part of a fusion gene in]
  - Função: Sequence-specific transcriptional activator (PubMed:24100448, PubMed:26316623, PubMed:28255014). Recognizes the DNA sequence 5'-C[CA]GGAAGT-3'

## Medicamentos em desenvolvimento (6)

- DEXRAZOXANE — Fase Phase 3 (DNA topoisomerase II inhibitor)
- DOXORUBICIN HYDROCHLORIDE — Fase Phase 3 (DNA topoisomerase II alpha inhibitor)
- VINCRISTINE SULFATE — Fase Phase 3 (Tubulin inhibitor)
- DOXORUBICIN — Fase Phase 3 (DNA topoisomerase II alpha inhibitor)
- VINCRISTINE — Fase Phase 3 (Tubulin inhibitor)
- ETOPOSIDE — Fase Phase 3 (DNA topoisomerase II inhibitor)
- Fonte: https://platform.opentargets.org/disease/MONDO_0018271

## Ensaios clínicos ativos (14)

- **NCT04901702** [RECRUITING]: Study of Onivyde With Talazoparib or Temozolomide in Children With Recurrent Solid Tumors and Ewing Sarcoma — https://clinicaltrials.gov/study/NCT04901702
- **NCT03911388** [RECRUITING]: HSV G207 in Children With Recurrent or Refractory Cerebellar Brain Tumors — https://clinicaltrials.gov/study/NCT03911388
- **NCT06068075** [RECRUITING]: Liquid Biopsy in Ewing Sarcoma and Osteosarcoma as a Prognostic And Response Diagnostic: LEOPARD — https://clinicaltrials.gov/study/NCT06068075
- **NCT06441331** [RECRUITING]: Phase I Trial to Determine the Dose and Evaluate the PK and Safety of Lutetium Lu 177 Edotreotide Therapy in Pediatric Participants With SSTR-positive Tumors — https://clinicaltrials.gov/study/NCT06441331
- **NCT03155620** [ACTIVE_NOT_RECRUITING]: Targeted Therapy Directed by Genetic Testing in Treating Pediatric Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphomas, or Histiocytic Disorders (The Pediatric MATCH Screening Trial) — https://clinicaltrials.gov/study/NCT03155620
- **NCT03213652** [ACTIVE_NOT_RECRUITING]: Ensartinib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With ALK or ROS1 Genomic Alterations (A Pediatric MATCH Treatment Trial) — https://clinicaltrials.gov/study/NCT03213652
- **NCT02306161** [ACTIVE_NOT_RECRUITING]: Combination Chemotherapy With or Without Ganitumab in Treating Patients With Newly Diagnosed Metastatic Ewing Sarcoma — https://clinicaltrials.gov/study/NCT02306161
- **NCT03698994** [ACTIVE_NOT_RECRUITING]: Ulixertinib in Treating Patients With Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With MAPK Pathway Mutations (A Pediatric MATCH Treatment Trial) — https://clinicaltrials.gov/study/NCT03698994
- **NCT03210714** [ACTIVE_NOT_RECRUITING]: Erdafitinib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With FGFR Mutations (A Pediatric MATCH Treatment Trial) — https://clinicaltrials.gov/study/NCT03210714
- **NCT04195555** [ACTIVE_NOT_RECRUITING]: Ivosidenib in Treating Patients With Advanced Solid Tumors, Lymphoma, or Histiocytic Disorders With IDH1 Mutations (A Pediatric MATCH Treatment Trial) — https://clinicaltrials.gov/study/NCT04195555

## Doenças relacionadas (por similaridade fenotípica)

- [Alteração do metabolismo e excreção de bilirrubina](https://raras.org/doenca/alteracao-do-metabolismo-e-excrecao-de-bilirrubina) — ORPHA:309816 — 12 sintomas em comum
- [Tumor endócrino enteropancreático](https://raras.org/doenca/tumor-endocrino-enteropancreatico) — ORPHA:100092 — 11 sintomas em comum
- [Porfiria hepática](https://raras.org/doenca/porfiria-hepatica) — ORPHA:659694 — 10 sintomas em comum
- [Linfoma maligno não-Hodgkin](https://raras.org/doenca/linfoma-maligno-nao-hodgkin) — ORPHA:547 — 10 sintomas em comum
- [Sarcoma de tecidos moles](https://raras.org/doenca/sarcoma-de-tecidos-moles) — ORPHA:3394 — 10 sintomas em comum
- [Lúpus eritematoso sistêmico](https://raras.org/doenca/lupus-eritematoso-sistemico) — ORPHA:536 — 10 sintomas em comum
- [Colestase intra-hepática familiar](https://raras.org/doenca/colestase-intra-hepatica-familiar) — ORPHA:284385 — 9 sintomas em comum
- [Linfoma não-Hodgkin de células B](https://raras.org/doenca/linfoma-nao-hodgkin-de-celulas-b) — ORPHA:171915 — 9 sintomas em comum
- [Tumor raro induzido por vírus](https://raras.org/doenca/tumor-raro-induzido-por-virus) — ORPHA:289635 — 9 sintomas em comum
- [Doença de Wilson](https://raras.org/doenca/doenca-de-wilson) — ORPHA:905 — 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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