# Glioblastoma

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

## Identificadores

- **ORPHA**: 360 — https://www.orpha.net/en/disease/detail/360
- **CID-10**: C71.9
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Os glioblastomas são tumores astrocíticos malignos (classe IV de acordo com a classificação da OMS).

## Epidemiologia e herança

- **Prevalência**: 1-9 / 100 000
- **Padrão de herança**: Multigenic/multifactorial, Not applicable

## Sinais e sintomas (15 fenótipos HPO)

- **Labilidade emocional** — HPO: HP:0000712 (Frequente (79-30%))
- **Comprometimento da memória** — HPO: HP:0002354 (Ocasional (29-5%))
- **Morfologia anormal da substância branca cerebral** — HPO: HP:0002500 (Frequente (79-30%))
- **Fraqueza muscular** — HPO: HP:0001324 (Frequente (79-30%))
- **Anormalidade da fisiologia do sistema nervoso** — HPO: HP:0012638 (Frequente (79-30%))
- **Perda visual** — HPO: HP:0000572 (Frequente (79-30%))
- **Morfologia celular anormal** — HPO: HP:0025461 (Muito frequente (99-80%))
- **Convulsão** — HPO: HP:0001250 (Ocasional (29-5%))
- **Edema cerebral** — HPO: HP:0002181 (Frequente (79-30%))
- **Comprometimento da linguagem** — HPO: HP:0002463 (Frequente (79-30%))
- **Glioblastoma multiforme** — HPO: HP:0012174
- **Paralisia** — HPO: HP:0003470 (Frequente (79-30%))
- **Cefaleia** — HPO: HP:0002315 (Frequente (79-30%))
- **Morfologia anormal do corpo caloso** — HPO: HP:0001273 (Frequente (79-30%))
- **Fadiga** — HPO: HP:0012378 (Frequente (79-30%))

## Genes associados (13)

- **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
- **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
- **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
- **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
- **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
- **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
- **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
- **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
- **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
- **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
- **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
- **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
- **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

## Ensaios clínicos ativos (32)

- **NCT05917145** [RECRUITING]: ATM-Inhibitor WSD0628 in Combination With Radiation Therapy for Treatment of Recurrent High-Grade Glioma — https://clinicaltrials.gov/study/NCT05917145
- **NCT06069726** [RECRUITING]: A Multicenter Trial to Identify Optimal Atezolizumab Biomarkers in the Setting of Recurrent Glioblastoma. The MOAB Trial — https://clinicaltrials.gov/study/NCT06069726
- **NCT05969860** [RECRUITING]: At-Home Cancer Directed Therapy Versus in Clinic for the Treatment of Patients With Advanced Cancer — https://clinicaltrials.gov/study/NCT05969860
- **NCT07538128** [RECRUITING]: Evaluating Safety, Tolerability, and Preliminary Efficacy of YSCH-01 Monotherapy and in Combination With Atezolizumab for Recurrent Glioblastoma — https://clinicaltrials.gov/study/NCT07538128
- **NCT05698524** [RECRUITING]: A Study of Temodar With Abexinostat (PCI-24781) for Patients With Recurrent Glioma — https://clinicaltrials.gov/study/NCT05698524
- **NCT06466031** [RECRUITING]: Application of FET-PET in Fusion With MRI in the Treatment of Glioblastoma Multiforme [TYR-GLIO] — https://clinicaltrials.gov/study/NCT06466031
- **NCT07100730** [RECRUITING]: Study of TLX101-Tx Plus Standard of Care (SoC) Versus SoC Alone for the Treatment of Patients With Recurrent Glioblastoma — https://clinicaltrials.gov/study/NCT07100730
- **NCT07042620** [RECRUITING]: A Study to Test a New Fluid to Improve the Quality of Images Obtained by Using Sound Waves (Ultrasound) During Surgery — https://clinicaltrials.gov/study/NCT07042620
- **NCT00083512** [RECRUITING]: Collection of Blood and Urine Samples in Patients Receiving Radiation Therapy for Glioblastoma Multiforme — https://clinicaltrials.gov/study/NCT00083512
- **NCT06607692** [RECRUITING]: Study in Children and Adolescents of 177Lu-DOTATATE (Lutathera®) Combined With the PARP Inhibitor Olaparib for the Treatment of Recurrent or Relapsed Solid Tumours Expressing Somatostatin Receptor (SSTR) (LuPARPed). — https://clinicaltrials.gov/study/NCT06607692

## 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
- [Astrocitoma de alto grau](https://raras.org/doenca/astrocitoma-de-alto-grau) — ORPHA:251561 — 15 sintomas em comum
- [Adrenoleucodistrofia ligada ao X](https://raras.org/doenca/adrenoleucodistrofia-ligada-ao-x) — ORPHA:43 — 7 sintomas em comum
- [Encefalite infecciosa](https://raras.org/doenca/encefalite-infecciosa) — ORPHA:98252 — 7 sintomas em comum
- [Tripanossomíase Africana](https://raras.org/doenca/tripanossomiase-africana) — ORPHA:3385 — 6 sintomas em comum
- [Lúpus eritematoso sistêmico](https://raras.org/doenca/lupus-eritematoso-sistemico) — ORPHA:536 — 6 sintomas em comum
- [Malformação dos seios durais](https://raras.org/doenca/malformacao-dos-seios-durais) — ORPHA:97339 — 6 sintomas em comum
- [Arteriopatia cerebral autossômica dominante-infartos subcorticais-leucoencefalopatia](https://raras.org/doenca/arteriopatia-cerebral-autossomica-dominante-infartos-subcorticais-leucoencefalopatia) — ORPHA:136 — 6 sintomas em comum
- [Adenoma hipofisário isolado familiar](https://raras.org/doenca/adenoma-hipofisario-isolado-familiar) — ORPHA:314777 — 6 sintomas em comum

## Importante

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Pacientes devem consultar profissionais de saúde qualificados para decisões clínicas.

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