# Glioblastoma de células gigantes

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

## Identificadores

- **ORPHA**: 251579 — https://www.orpha.net/en/disease/detail/251579
- **CID-10**: C71.9
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Uma variação rara de glioblastoma (um tipo de câncer cerebral de grau 4, o mais agressivo, de acordo com a OMS), caracterizada pela predominância de células gigantes com aparência estranha e múltiplos núcleos. Às vezes, também apresenta uma rede abundante de fibras de suporte (reticulina) e é comum encontrar mutações (alterações) no gene TP53.

## Epidemiologia e herança

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

## Genes associados (13)

- **PPARG** — Peroxisome proliferator-activated receptor gamma [Biomarker 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
- **ROS1** — Proto-oncogene tyrosine-protein kinase ROS [Part of a fusion gene 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 [Biomarker 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
- **FGFR3** — Fibroblast growth factor receptor 3 [Part of a fusion gene 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 [Biomarker 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
- **TACC3** — Transforming acidic coiled-coil-containing protein 3 [Part of a fusion gene 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
- **LZTR1** — Leucine-zipper-like transcriptional regulator 1 [Disease-causing somatic mutation(s) 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
- **NFKBIA** — NF-kappa-B inhibitor alpha [Biomarker 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
- **EGFR** — Epidermal growth factor receptor [Part of a fusion gene 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
- **FGFR1** — Fibroblast growth factor receptor 1 [Part of a fusion gene 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 [Part of a fusion gene 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
- **TP53** — Cellular tumor antigen p53 [Biomarker 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
- **SEPTIN14** — Septin-14 [Part of a fusion gene 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

## Ensaios clínicos ativos (1)

- **NCT00268385** [ACTIVE_NOT_RECRUITING]: Vorinostat and Temozolomide in Treating Patients With Malignant Gliomas — https://clinicaltrials.gov/study/NCT00268385
- **NCT04482933** [WITHDRAWN]: HSV G207 With a Single Radiation Dose in Children With Recurrent High-Grade Glioma — https://clinicaltrials.gov/study/NCT04482933
- **NCT02709226** [COMPLETED]: Dose Escalation Trial of Re-irradiation in Good Prognosis Recurrent Glioblastoma — https://clinicaltrials.gov/study/NCT02709226
- **NCT06806228** [SUSPENDED]: Phase I Pilot Study to Evaluate the Anti-glioblastoma Effect of S-Gboxin in Standard Treatment of Glioblastoma/Diffuse Midline Glioma and Response to Treatment (Regardless of Mutation Status) — https://clinicaltrials.gov/study/NCT06806228
- **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
- **NCT02186509** [COMPLETED]: Alisertib and Fractionated Stereotactic Radiosurgery in Treating Patients With Recurrent High Grade Gliomas — https://clinicaltrials.gov/study/NCT02186509
- **NCT01894061** [COMPLETED]: NovoTTF-100A With Bevacizumab (Avastin) in Patients With Recurrent Glioblastoma — https://clinicaltrials.gov/study/NCT01894061
- **NCT01149850** [COMPLETED]: Bevacizumab and Temozolomide in Treating Older Patients With Newly-Diagnosed Glioblastoma Multiforme or Gliosarcoma — https://clinicaltrials.gov/study/NCT01149850
- **NCT03027388** [COMPLETED]: Protein Phosphatase 2A Inhibitor, in Recurrent Glioblastoma — https://clinicaltrials.gov/study/NCT03027388
- **NCT01957956** [COMPLETED]: Vaccine Therapy and Temozolomide in Treating Patients With Newly Diagnosed Glioblastoma — https://clinicaltrials.gov/study/NCT01957956

## 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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