# Astrocitoma

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

## Identificadores

- **ORPHA**: 94 — https://www.orpha.net/en/disease/detail/94
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Grupo complexo de tumores cerebrais benignos e malignos que aparecem em qualquer idade.

## Epidemiologia e herança

- **Prevalência**: 1-9 / 100 000

## Sinais e sintomas (33 fenótipos HPO)

- **Morfologia anormal do corpo caloso** — HPO: HP:0001273
- **Fraqueza muscular** — HPO: HP:0001324
- **Pituicitoma** — HPO: HP:0011754
- **Estradiol sérico diminuído** — HPO: HP:0008214
- **Hipopituitarismo** — HPO: HP:0040075
- **Anormalidade do nível circulante de adrenocorticotropina** — HPO: HP:0011043
- **Convulsão** — HPO: HP:0001250
- **Diabetes insipidus central** — HPO: HP:0000863
- **Edema cerebral** — HPO: HP:0002181
- **Perda visual** — HPO: HP:0000572
- **Galactorreia** — HPO: HP:0100829
- **Concentração sérica de testosterona diminuída** — HPO: HP:0040171
- **Anormalidade da fisiologia do sistema nervoso** — HPO: HP:0012638
- **Fadiga** — HPO: HP:0012378
- **Hipotireoidismo hipofisário** — HPO: HP:0008245
- **Início na idade adulta** — HPO: HP:0003581
- **Amenorreia** — HPO: HP:0000141
- **Labilidade emocional** — HPO: HP:0000712
- **Libido feminina diminuída** — HPO: HP:0030018
- **Glioblastoma multiforme** — HPO: HP:0012174
- **Comprometimento da memória** — HPO: HP:0002354
- **Resposta diminuída ao teste de estímulo do hormônio do crescimento** — HPO: HP:0000824
- **Morfologia anormal da substância branca cerebral** — HPO: HP:0002500
- **Paralisia** — HPO: HP:0003470
- **Impotência** — HPO: HP:0000802
- **Hipogonadismo hipogonadotrófico** — HPO: HP:0000044
- **Aumento da concentração circulante de prolactina** — HPO: HP:0000870
- **Comprometimento da linguagem** — HPO: HP:0002463
- **Morfologia celular anormal** — HPO: HP:0025461
- **Cefaleia** — HPO: HP:0002315
- **Morfologia anormal da glândula pituitária** — HPO: HP:0012503
- **Defeito do campo visual** — HPO: HP:0001123
- **Neoplasia da hipófise posterior** — HPO: HP:0011752

## Genes associados (20)

- **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
- **EGFR** — Epidermal growth factor receptor [Candidate gene tested in]
  - Função: Receptor tyrosine kinase binding ligands of the EGF family and activating several signaling cascades to convert extracellular cues into appropriate cellular responses (PubMed:10805725, PubMed:27153536
- **LZTR1** — Leucine-zipper-like transcriptional regulator 1 [Candidate gene tested in]
  - Função: Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex that mediates ubiquitination of Ras (K-Ras/KRAS, N-Ras/NRAS and H-Ras/HRAS) (PubMed:30442762, PubMed:30442766, P
- **ROS1** — Proto-oncogene tyrosine-protein kinase ROS [Candidate gene tested in]
  - Função: Receptor tyrosine kinase (RTK) that plays a role in epithelial cell differentiation and regionalization of the proximal epididymal epithelium. NELL2 is an endogenous ligand for ROS1. Upon endogenous s
- **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
- **PPARG** — Peroxisome proliferator-activated receptor gamma [Candidate gene tested in]
  - Função: Ligand-activated transcription factor that forms obligate heterodimers with the retinoic acid receptor and acts as a key regulator of biological processes, such as adipocyte differentiation, lipid met
- **KIAA1549** — UPF0606 protein KIAA1549 [Candidate gene tested in]
  - Função: May play a role in photoreceptor function
- **IDH2** — Isocitrate dehydrogenase [NADP], mitochondrial [Candidate gene tested in]
  - Função: Plays a role in intermediary metabolism and energy production (PubMed:19228619, PubMed:22416140). It may tightly associate or interact with the pyruvate dehydrogenase complex (PubMed:19228619, PubMed:
- **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
- **IDH1** — Isocitrate dehydrogenase [NADP] cytoplasmic [Candidate gene tested in]
  - Função: Catalyzes the NADP(+)-dependent oxidative decarboxylation of isocitrate (D-threo-isocitrate) to 2-ketoglutarate (2-oxoglutarate), which is required by other enzymes such as the phytanoyl-CoA dioxygena
- **MGMT** — Methylated-DNA--protein-cysteine methyltransferase [Candidate gene tested in]
  - Função: Involved in the cellular defense against the biological effects of O6-methylguanine (O6-MeG) and O4-methylthymine (O4-MeT) in DNA. Repairs the methylated nucleobase in DNA by stoichiometrically transf
- **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).
- **NFKBIA** — NF-kappa-B inhibitor alpha [Candidate gene tested in]
  - Função: Inhibits the activity of dimeric NF-kappa-B/REL complexes by trapping REL (RELA/p65 and NFKB1/p50) dimers in the cytoplasm by masking their nuclear localization signals (PubMed:1493333, PubMed:3665180
- **TP53** — Cellular tumor antigen p53 [Candidate gene tested in]
  - Função: Multifunctional transcription factor that induces cell cycle arrest, DNA repair or apoptosis upon binding to its target DNA sequence (PubMed:11025664, PubMed:12524540, PubMed:12810724, PubMed:15186775
- **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

## Medicamentos em desenvolvimento (11)

- CARMUSTINE — Fase Phase 4 (Glutathione reductase inhibitor)
- EVEROLIMUS — Fase Phase 4 (FK506-binding protein 1A inhibitor)
- BEVACIZUMAB — Fase Phase 4 (Vascular endothelial growth factor A inhibitor)
- SELUMETINIB — Fase Phase 3 (Dual specificity mitogen-activated protein kinase kinase; MEK1/2 inhibitor)
- IMATINIB MESYLATE — Fase Phase 3 (Tyrosine-protein kinase ABL inhibitor)
- VINCRISTINE SULFATE — Fase Phase 3 (Tubulin inhibitor)
- VINCRISTINE — Fase Phase 3 (Tubulin inhibitor)
- IMATINIB — Fase Phase 3 (Tyrosine-protein kinase ABL inhibitor)
- SELUMETINIB SULFATE — Fase Phase 3 (Dual specificity mitogen-activated protein kinase kinase; MEK1/2 inhibitor)
- HYDROXYUREA — Fase Phase 3 (Ribonucleoside-diphosphate reductase RR1 inhibitor)
- Fonte: https://platform.opentargets.org/disease/MONDO_0021636

## Ensaios clínicos ativos (13)

- **NCT05698524** [RECRUITING]: A Study of Temodar With Abexinostat (PCI-24781) for Patients With Recurrent Glioma — https://clinicaltrials.gov/study/NCT05698524
- **NCT04166409** [RECRUITING]: A Study of the Drugs Selumetinib vs. Carboplatin and Vincristine in Patients With Low-Grade Glioma — https://clinicaltrials.gov/study/NCT04166409
- **NCT02800486** [RECRUITING]: Super Selective Intra-arterial Repeated Infusion of Cetuximab (Erbitux) With Reirradiation for Treatment of Relapsed/Refractory GBM, AA, and AOA — https://clinicaltrials.gov/study/NCT02800486
- **NCT03911388** [RECRUITING]: HSV G207 in Children With Recurrent or Refractory Cerebellar Brain Tumors — https://clinicaltrials.gov/study/NCT03911388
- **NCT03581292** [ACTIVE_NOT_RECRUITING]: Veliparib, Radiation Therapy, and Temozolomide in Treating Patients With Newly Diagnosed Malignant Glioma Without H3 K27M or BRAFV600 Mutations — https://clinicaltrials.gov/study/NCT03581292
- **NCT03528642** [ACTIVE_NOT_RECRUITING]: Telaglenastat With Radiation Therapy and Temozolomide in Treating Patients With IDH-Mutated Diffuse Astrocytoma or Anaplastic Astrocytoma — https://clinicaltrials.gov/study/NCT03528642
- **NCT04145115** [ACTIVE_NOT_RECRUITING]: A Study Testing the Effect of Immunotherapy (Ipilimumab and Nivolumab) in Patients With Recurrent Glioma With Elevated Mutational Burden — https://clinicaltrials.gov/study/NCT04145115
- **NCT00268385** [ACTIVE_NOT_RECRUITING]: Vorinostat and Temozolomide in Treating Patients With Malignant Gliomas — https://clinicaltrials.gov/study/NCT00268385
- **NCT04576117** [ACTIVE_NOT_RECRUITING]: A Study to Compare Treatment With the Drug Selumetinib Alone Versus Selumetinib and Vinblastine in Patients With Recurrent or Progressive Low-Grade Glioma — https://clinicaltrials.gov/study/NCT04576117
- **NCT03919071** [ACTIVE_NOT_RECRUITING]: Dabrafenib Combined With Trametinib After Radiation Therapy in Treating Patients With Newly-Diagnosed High-Grade Glioma — https://clinicaltrials.gov/study/NCT03919071

## Doenças relacionadas (por similaridade fenotípica)

- [Glioma](https://raras.org/doenca/glioma) — ORPHA:182067 — 33 sintomas em comum
- [Pituicitoma](https://raras.org/doenca/pituicitoma) — ORPHA:251623 — 20 sintomas em comum
- [Astrocitoma de baixo grau](https://raras.org/doenca/astrocitoma-de-baixo-grau) — ORPHA:251592 — 20 sintomas em comum
- [Deficiência de hormônio pituitário adquirida](https://raras.org/doenca/deficiencia-de-hormonio-pituitario-adquirida) — ORPHA:95502 — 16 sintomas em comum
- [Astrocitoma de alto grau](https://raras.org/doenca/astrocitoma-de-alto-grau) — ORPHA:251561 — 15 sintomas em comum
- [Adenoma hipofisário isolado familiar](https://raras.org/doenca/adenoma-hipofisario-isolado-familiar) — ORPHA:314777 — 15 sintomas em comum
- [Glioblastoma](https://raras.org/doenca/glioblastoma) — ORPHA:360 — 15 sintomas em comum
- [Meningioma](https://raras.org/doenca/meningioma) — ORPHA:2495 — 13 sintomas em comum
- [Tumor das meninges](https://raras.org/doenca/tumor-das-meninges) — ORPHA:252025 — 13 sintomas em comum
- [Adenoma hipofisário não-secretor](https://raras.org/doenca/adenoma-hipofisario-nao-secretor) — ORPHA:91349 — 12 sintomas em comum

## Importante

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Pacientes devem consultar profissionais de saúde qualificados para decisões clínicas.

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