# Astrocitoma pilocítico

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

## Identificadores

- **ORPHA**: 251612 — https://www.orpha.net/en/disease/detail/251612
- **CID-10**: C71.9
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

O astrocitoma pilocítico é um subtipo raro de glioma de baixo grau do sistema nervoso central, caracterizado por um tumor cerebral bem circunscrito, muitas vezes cístico, com um nódulo mural discreto e longas projeções semelhantes a cabelos que se estendem dos astrócitos neoplásicos. Dependendo da localização primária e do tamanho do tumor, os pacientes podem apresentar sinais de aumento da pressão intracraniana (cefaléia, vômito, papiledema), visão turva, diminuição da acuidade visual, ataxia e/ou nistagmo, entre outros. Está mais comumente localizado no cerebelo, mas também foi relatada ocorrência no hipotálamo, tronco cerebral, quiasma óptico e hemisférios.

## Epidemiologia e herança

- **Prevalência**: 1-9 / 1 000 000
- **Padrão de herança**: Not applicable

## Genes associados (7)

- **FGFR1** — Fibroblast growth factor receptor 1 [Candidate gene tested in]
  - Função: Tyrosine-protein kinase that acts as a cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of embryonic development, cell proliferation, differentiation a
- **BRAF** — Serine/threonine-protein kinase B-raf [Candidate gene tested in]
  - Função: Protein kinase involved in the transduction of mitogenic signals from the cell membrane to the nucleus (Probable). Phosphorylates MAP2K1, and thereby activates the MAP kinase signal transduction pathw
- **KIAA1549** — UPF0606 protein KIAA1549 [Candidate gene tested in]
  - Função: May play a role in photoreceptor function
- **NTRK2** — BDNF/NT-3 growth factors receptor [Candidate gene tested in]
  - Função: Receptor tyrosine kinase involved in the development and the maturation of the central and the peripheral nervous systems through regulation of neuron survival, proliferation, migration, differentiati
- **RAF1** — RAF proto-oncogene serine/threonine-protein kinase [Candidate gene tested in]
  - Função: Serine/threonine-protein kinase that acts as a regulatory link between the membrane-associated Ras GTPases and the MAPK/ERK cascade, and this critical regulatory link functions as a switch determining
- **KRAS** — GTPase KRas [Candidate gene tested in]
  - Função: Ras proteins bind GDP/GTP and possess intrinsic GTPase activity (PubMed:20949621, PubMed:39809765). Plays an important role in the regulation of cell proliferation (PubMed:22711838, PubMed:23698361).
- **SRGAP3** — SLIT-ROBO Rho GTPase-activating protein 3 [Candidate gene tested in]
  - Função: GTPase-activating protein for RAC1 and perhaps Cdc42, but not for RhoA small GTPase. May attenuate RAC1 signaling in neurons

## Medicamentos em desenvolvimento (8)

- PEGINTERFERON ALFA-2B — Fase Phase 2 (Interferon alpha/beta receptor agonist)
- ETOPOSIDE — Fase Phase 2 (DNA topoisomerase II inhibitor)
- DOXORUBICIN — Fase Phase 2 (DNA topoisomerase II alpha inhibitor)
- SELUMETINIB — Fase Phase 1 (Dual specificity mitogen-activated protein kinase kinase; MEK1/2 inhibitor)
- PIMASERTIB — Fase Phase 1 (Dual specificity mitogen-activated protein kinase kinase 2 inhibitor)
- TOVORAFENIB — Fase Phase 1 (RAF serine/threonine protein kinase inhibitor)
- TEMSIROLIMUS — Fase Phase 1 (FK506-binding protein 1A inhibitor)
- ERLOTINIB — Fase Phase 1 (Epidermal growth factor receptor erbB1 inhibitor)
- Fonte: https://platform.opentargets.org/disease/MONDO_0016691

## Ensaios clínicos ativos (5)

- **NCT04065776** [RECRUITING]: Evaluation of Hippocampal-Avoidance Using Proton Therapy in Low-Grade Glioma — https://clinicaltrials.gov/study/NCT04065776
- **NCT04541082** [RECRUITING]: Phase I Study of Oral ONC206 in Recurrent and Rare Primary Central Nervous System Neoplasms — https://clinicaltrials.gov/study/NCT04541082
- **NCT06915649** [RECRUITING]: Exploration and Evaluation of Amygdalo-Hippocampectomy According to Prof. Coubes' Technique: An Anatomical, Clinical, and Educational Approach — https://clinicaltrials.gov/study/NCT06915649
- **NCT01089101** [ACTIVE_NOT_RECRUITING]: Selumetinib in Treating Young Patients With Recurrent or Refractory Low Grade Glioma — https://clinicaltrials.gov/study/NCT01089101
- **NCT03975829** [ACTIVE_NOT_RECRUITING]: Pediatric Long-Term Follow-up and Rollover Study — https://clinicaltrials.gov/study/NCT03975829
- **NCT04985604** [TERMINATED]: Tovorafenib (DAY101) Monotherapy for Patients With Melanoma and Other Solid Tumors — https://clinicaltrials.gov/study/NCT04985604
- **NCT01165632** [COMPLETED]: Fluorine F 18 Fluorodopa-Labeled PET Scan in Planning Surgery and Radiation Therapy in Treating Patients With Newly Diagnosed High- or Low-Grade Malignant Glioma — https://clinicaltrials.gov/study/NCT01165632
- **NCT07121829** [TERMINATED]: Tovorafenib (DAY101) or in Combination With Pimasertib for Participants With Melanoma and Other Solid Tumors — https://clinicaltrials.gov/study/NCT07121829
- **NCT05934630** [SUSPENDED]: Testing Cerebrospinal Fluid for Cell-free Tumor DNA in Children, Adolescents, and Young Adults With Brain Tumors — https://clinicaltrials.gov/study/NCT05934630
- **NCT02186509** [COMPLETED]: Alisertib and Fractionated Stereotactic Radiosurgery in Treating Patients With Recurrent High Grade Gliomas — https://clinicaltrials.gov/study/NCT02186509

## 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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