# Gliossarcoma

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

## Identificadores

- **ORPHA**: 251576 — https://www.orpha.net/en/disease/detail/251576
- **CID-10**: C71.9
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Uma variação rara de glioblastoma (um tipo agressivo de tumor cerebral, de grau 4 pela Organização Mundial da Saúde – OMS), que se caracteriza por apresentar um padrão de tecido com duas "partes" diferentes: áreas que se alternam com características de células gliais e de células mesenquimais (segundo a OMS).

## Epidemiologia e herança

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

## Genes associados (12)

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

## Ensaios clínicos ativos (33)

- **NCT05698524** [RECRUITING]: A Study of Temodar With Abexinostat (PCI-24781) for Patients With Recurrent Glioma — https://clinicaltrials.gov/study/NCT05698524
- **NCT07134842** [RECRUITING]: A Study Assessing if it is Safe and Possible to Treat Brain Cancer Patients With Immunotherapy Before They Receive the Standard Treatment. — https://clinicaltrials.gov/study/NCT07134842
- **NCT07301268** [RECRUITING]: GI-102 Alone or With Pembrolizumab Before Surgery for Treatment of Recurrent or Progressive IDH Wildtype Glioblastoma and IDH Mutated Grade 4 Astrocytoma — https://clinicaltrials.gov/study/NCT07301268
- **NCT06934889** [RECRUITING]: Study of ABBV-637 or ABBV-155 With ERAS-801 for People With Glioblastoma — https://clinicaltrials.gov/study/NCT06934889
- **NCT03896568** [RECRUITING]: MSC-DNX-2401 in Treating Patients With Recurrent High-Grade Glioma — https://clinicaltrials.gov/study/NCT03896568
- **NCT05756985** [RECRUITING]: Improving Understanding of Glioblastoma Through Preservation of Biologically Active Brain Tissue — https://clinicaltrials.gov/study/NCT05756985
- **NCT04991870** [RECRUITING]: Phase I CB-NK-TGF-ßR2-/NR3C1- in rGBM — https://clinicaltrials.gov/study/NCT04991870
- **NCT05084430** [RECRUITING]: Study of Pembrolizumab and M032 (NSC 733972) — https://clinicaltrials.gov/study/NCT05084430
- **NCT05465954** [RECRUITING]: Efineptakin Alfa and Pembrolizumab for the Treatment of Recurrent Glioblastoma — https://clinicaltrials.gov/study/NCT05465954
- **NCT05039281** [RECRUITING]: Atezolizumab and Cabozantinib for the Treatment of Recurrent Glioblastoma — https://clinicaltrials.gov/study/NCT05039281

## 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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