# Astrocitoma de alto grau

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

## Identificadores

- **ORPHA**: 251561 — https://www.orpha.net/en/disease/detail/251561
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Um astrocitoma anaplásico (um tipo de tumor cerebral astrocítico de grau 3) ou um glioblastoma (um tipo de tumor cerebral astrocítico de grau 4).

## Epidemiologia e herança


## Sinais e sintomas (15 fenótipos HPO)

- **Morfologia celular anormal** — HPO: HP:0025461
- **Edema cerebral** — HPO: HP:0002181
- **Morfologia anormal do corpo caloso** — HPO: HP:0001273
- **Cefaleia** — HPO: HP:0002315
- **Comprometimento da linguagem** — HPO: HP:0002463
- **Paralisia** — HPO: HP:0003470
- **Labilidade emocional** — HPO: HP:0000712
- **Morfologia anormal da substância branca cerebral** — HPO: HP:0002500
- **Convulsão** — HPO: HP:0001250
- **Fraqueza muscular** — HPO: HP:0001324
- **Comprometimento da memória** — HPO: HP:0002354
- **Anormalidade da fisiologia do sistema nervoso** — HPO: HP:0012638
- **Perda visual** — HPO: HP:0000572
- **Fadiga** — HPO: HP:0012378
- **Glioblastoma multiforme** — HPO: HP:0012174

## Genes associados (14)

- **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:
- **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
- **TACC1** — Transforming acidic coiled-coil-containing protein 1 [Candidate gene tested in]
  - Função: Involved in transcription regulation induced by nuclear receptors, including in T3 thyroid hormone and all-trans retinoic acid pathways (PubMed:20078863). Might promote the nuclear localization of the
- **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
- **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
- **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
- **SEPTIN14** — Septin-14 [Candidate gene tested in]
  - Função: Filament-forming cytoskeletal GTPase (Probable). Involved in the migration of cortical neurons and the formation of neuron leading processes during embryonic development (By similarity). Plays a role
- **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
- **TACC3** — Transforming acidic coiled-coil-containing protein 3 [Candidate gene tested in]
  - Função: Plays a role in the microtubule-dependent coupling of the nucleus and the centrosome. Involved in the processes that regulate centrosome-mediated interkinetic nuclear migration (INM) of neural progeni
- **FGFR3** — Fibroblast growth factor receptor 3 [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 cell proliferation, differentiation and apoptosis. Plays an
- **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
- **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
- **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

## Medicamentos em desenvolvimento (10)

- CARMUSTINE — Fase Phase 4 (Glutathione reductase inhibitor)
- BEVACIZUMAB — Fase Phase 4 (Vascular endothelial growth factor A inhibitor)
- DEPATUXIZUMAB MAFODOTIN — Fase Phase 3 (Epidermal growth factor receptor erbB1 binding agent)
- MARIZOMIB — Fase Phase 3 (20S proteasome inhibitor)
- CILENGITIDE — Fase Phase 3 (Integrin alpha-V/beta-3 antagonist)
- EDOTECARIN — Fase Phase 3 (DNA topoisomerase I inhibitor)
- HYDROXYUREA — Fase Phase 3 (Ribonucleoside-diphosphate reductase RR1 inhibitor)
- CEDIRANIB — Fase Phase 3 (Vascular endothelial growth factor receptor inhibitor)
- IMATINIB — Fase Phase 3 (Stem cell growth factor receptor inhibitor)
- IMATINIB MESYLATE — Fase Phase 3 (Tyrosine-protein kinase ABL inhibitor)
- Fonte: https://platform.opentargets.org/disease/MONDO_0016680

## Ensaios clínicos ativos (16)

- **NCT03911388** [RECRUITING]: HSV G207 in Children With Recurrent or Refractory Cerebellar Brain Tumors — https://clinicaltrials.gov/study/NCT03911388
- **NCT05839379** [RECRUITING]: Targeted Pediatric High-Grade Glioma Therapy — https://clinicaltrials.gov/study/NCT05839379
- **NCT05765812** [RECRUITING]: A Study of Debio 0123 in Combination With Temozolomide in Adult Participants With Recurrent or Progressive Glioblastoma and of Debio 0123 in Combination With Temozolomide and Radiotherapy in Adult Participants With Newly Diagnosed Glioblastoma — https://clinicaltrials.gov/study/NCT05765812
- **NCT03596086** [RECRUITING]: HSV-tk + Valacyclovir + SBRT + Chemotherapy for Recurrent GBM — https://clinicaltrials.gov/study/NCT03596086
- **NCT05843253** [RECRUITING]: Study of Ribociclib and Everolimus in HGG and DIPG or Ribociclib and Temozolomide in DHG, H3G34-mutant — https://clinicaltrials.gov/study/NCT05843253
- **NCT06333899** [RECRUITING]: Lorlatinib for Newly-Diagnosed High-Grade Glioma With ROS or ALK Fusion — https://clinicaltrials.gov/study/NCT06333899
- **NCT04135807** [RECRUITING]: Implantable Microdevice In Primary Brain Tumors — https://clinicaltrials.gov/study/NCT04135807
- **NCT06108206** [RECRUITING]: Adaptive Radiotherapy and MRIs Based on Patients With Newly Diagnosed High-Grade Glioma — https://clinicaltrials.gov/study/NCT06108206
- **NCT06264388** [RECRUITING]: DB107-Retroviral Replicating Vector (RRV) Combined With DB107-Flucytosine (FC) in Patients With Recurrent Glioblastoma or Anaplastic Astrocytoma — https://clinicaltrials.gov/study/NCT06264388
- **NCT05698524** [RECRUITING]: A Study of Temodar With Abexinostat (PCI-24781) for Patients With Recurrent Glioma — https://clinicaltrials.gov/study/NCT05698524

## Doenças relacionadas (por similaridade fenotípica)

- [Glioma](https://raras.org/doenca/glioma) — ORPHA:182067 — 15 sintomas em comum
- [Astrocitoma](https://raras.org/doenca/astrocitoma) — ORPHA:94 — 15 sintomas em comum
- [Glioblastoma](https://raras.org/doenca/glioblastoma) — ORPHA:360 — 15 sintomas em comum
- [Encefalite infecciosa](https://raras.org/doenca/encefalite-infecciosa) — ORPHA:98252 — 7 sintomas em comum
- [Adrenoleucodistrofia ligada ao X](https://raras.org/doenca/adrenoleucodistrofia-ligada-ao-x) — ORPHA:43 — 7 sintomas em comum
- [Adenoma hipofisário isolado familiar](https://raras.org/doenca/adenoma-hipofisario-isolado-familiar) — ORPHA:314777 — 6 sintomas em comum
- [Tripanossomíase Africana](https://raras.org/doenca/tripanossomiase-africana) — ORPHA:3385 — 6 sintomas em comum
- [Síndrome CACH](https://raras.org/doenca/sindrome-cach) — ORPHA:135 — 6 sintomas em comum
- [Lúpus eritematoso sistêmico](https://raras.org/doenca/lupus-eritematoso-sistemico) — ORPHA:536 — 6 sintomas em comum
- [Epilepsia, mioclonia progressiva](https://raras.org/doenca/epilepsia-mioclonia-progressiva) — ORPHA:98261 — 6 sintomas em comum

## Importante

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Pacientes devem consultar profissionais de saúde qualificados para decisões clínicas.

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