# Astrocitoma pilomixoide

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

## Identificadores

- **ORPHA**: 251615 — https://www.orpha.net/en/disease/detail/251615
- **CID-10**: C71.9
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Tumor astrocítico de relação incerta com astrocitoma pilocítico. Ocorre predominantemente em bebês e crianças pequenas. Caracteriza-se por um padrão arquitetônico monomórfico, geralmente associado à ausência de fibras de Rosenthal e corpos granulares eosinofílicos. O curso clínico geralmente é agressivo.

## Epidemiologia e herança


## Genes associados (7)

- **RAF1** — RAF proto-oncogene serine/threonine-protein kinase [Part of a fusion gene 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
- **NTRK2** — BDNF/NT-3 growth factors receptor [Part of a fusion gene 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
- **KIAA1549** — UPF0606 protein KIAA1549 [Part of a fusion gene in]
  - Função: May play a role in photoreceptor function
- **KRAS** — GTPase KRas [Disease-causing somatic mutation(s) 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 [Part of a fusion gene in]
  - Função: GTPase-activating protein for RAC1 and perhaps Cdc42, but not for RhoA small GTPase. May attenuate RAC1 signaling in neurons
- **FGFR1** — Fibroblast growth factor receptor 1 [Disease-causing somatic mutation(s) 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 [Part of a fusion gene 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

## Ensaios clínicos ativos (1)

- **NCT04065776** [RECRUITING]: Evaluation of Hippocampal-Avoidance Using Proton Therapy in Low-Grade Glioma — https://clinicaltrials.gov/study/NCT04065776
- **NCT01837862** [COMPLETED]: A Phase I Study of Mebendazole for the Treatment of Pediatric Gliomas — https://clinicaltrials.gov/study/NCT01837862
- **NCT01884740** [TERMINATED]: Intraarterial Infusion Of Erbitux and Bevacizumab For Relapsed/Refractory Intracranial Glioma In Patients Under 22 — https://clinicaltrials.gov/study/NCT01884740
- **NCT02194452** [WITHDRAWN]: Efficacy of 68Ga-DOTATOC Positron Emission Tomography (PET) CT in Children and Young Adults With Brain Tumors — https://clinicaltrials.gov/study/NCT02194452
- **NCT02175745** [TERMINATED]: 18F-FDOPA PET/CT or PET/MRI in Measuring Tumors in Patients With Newly-Diagnosed or Recurrent Gliomas — https://clinicaltrials.gov/study/NCT02175745

## 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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