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.
Introdução
O que você precisa saber de cara
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.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Entender a doença
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
13 genes identificados com associação a esta condição. Padrão de herança: Not applicable.
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 metabolism, glucose homeostasis and beta-oxidation of fatty acids (PubMed:16150867, PubMed:20829347, PubMed:23525231, PubMed:8702406, PubMed:8706692, PubMed:9065481). Activated by lipid ligands: binds peroxisome proliferators, such as hypolipidemic drugs, and fatty acids, such as prostaglandin J2 metab
NucleusCytoplasm
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 stimulation by NELL2, ROS1 activates the intracellular signaling pathway and triggers epididymal epithelial differentiation and subsequent sperm maturation (By similarity). May activate several downstream signaling pathways related to cell differentiation, proliferation, growth and survival including
Cell membrane
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 dioxygenase (PubMed:10521434, PubMed:19935646). Plays a critical role in the generation of NADPH, an important cofactor in many biosynthesis pathways (PubMed:10521434). May act as a corneal epithelial crystallin and may be involved in maintaining corneal epithelial transparency (By similarity)
Cytoplasm, cytosolPeroxisome
Glioma
Gliomas are benign or malignant central nervous system neoplasms derived from glial cells. They comprise astrocytomas and glioblastoma multiforme that are derived from astrocytes, oligodendrogliomas derived from oligodendrocytes and ependymomas derived from ependymocytes.
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 essential role in the regulation of chondrocyte differentiation, proliferation and apoptosis, and is required for normal skeleton development. Regulates both osteogenesis and postnatal bone mineralization by osteoblasts. Promotes apoptosis in chondrocytes, but can also promote cancer cell proliferat
Cell membraneCytoplasmic vesicleEndoplasmic reticulumSecreted
Achondroplasia
A frequent form of short-limb dwarfism. It is characterized by a long, narrow trunk, short extremities, particularly in the proximal (rhizomelic) segments, a large head with frontal bossing, hypoplasia of the midface and a trident configuration of the hands. ACH is an autosomal dominant disease.
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 transferring the methyl group to a cysteine residue in the enzyme. This is a suicide reaction: the enzyme is irreversibly inactivated
Nucleus
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 progenitors (By similarity). Acts as a component of the TACC3/ch-TOG/clathrin complex proposed to contribute to stabilization of kinetochore fibers of the mitotic spindle by acting as inter-microtubule bridge. The TACC3/ch-TOG/clathrin complex is required for the maintenance of kinetochore fiber tension (P
CytoplasmCytoplasm, cytoskeleton, microtubule organizing center, centrosomeCytoplasm, cytoskeleton, spindleCytoplasm, cytoskeleton, spindle pole
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, PubMed:30481304). Is a negative regulator of RAS-MAPK signaling that acts by controlling Ras levels and decreasing Ras association with membranes (PubMed:30442762, PubMed:30442766, PubMed:30481304)
Endomembrane systemRecycling endosomeGolgi apparatus
Glioma
Gliomas are benign or malignant central nervous system neoplasms derived from glial cells. They comprise astrocytomas and glioblastoma multiforme that are derived from astrocytes, oligodendrogliomas derived from oligodendrocytes and ependymomas derived from ependymocytes.
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:36651806, PubMed:7479976). On cellular stimulation by immune and pro-inflammatory responses, becomes phosphorylated promoting ubiquitination and degradation, enabling the dimeric RELA to translocate to the nucleus and activate transcription (PubMed:7479976, PubMed:7628694, PubMed:7796813, PubMed:7878466)
CytoplasmNucleus
Ectodermal dysplasia and immunodeficiency 2
A form of ectoderma dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. This form of ectodermal dysplasia is associated with decreased production of pro-inflammatory cytokines and certain interferons, rendering patients susceptible to infection. EDAID2 inheritance is autosomal dominant.
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, PubMed:2790960, PubMed:35538033). Known ligands include EGF, TGFA/TGF-alpha, AREG, epigen/EPGN, BTC/betacellulin, epiregulin/EREG and HBEGF/heparin-binding EGF (PubMed:12297049, PubMed:15611079, PubMed:17909029, PubMed:20837704, PubMed:27153536, PubMed:2790960, PubMed:7679104, PubMed:8144591, PubM
Cell membraneEndoplasmic reticulum membraneGolgi apparatus membraneNucleus membraneEndosomeEndosome membraneNucleusSecreted
Lung cancer
A common malignancy affecting tissues of the lung. The most common form of lung cancer is non-small cell lung cancer (NSCLC) that can be divided into 3 major histologic subtypes: squamous cell carcinoma, adenocarcinoma, and large cell lung cancer. NSCLC is often diagnosed at an advanced stage and has a poor prognosis.
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 and migration. Required for normal mesoderm patterning and correct axial organization during embryonic development, normal skeletogenesis and normal development of the gonadotropin-releasing hormone (GnRH) neuronal system. Phosphorylates PLCG1, FRS2, GAB1 and SHB. Ligand binding leads to the activati
Cell membraneNucleusCytoplasm, cytosolCytoplasmic vesicle
Pfeiffer syndrome
A syndrome characterized by the association of craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly of the fingers and toes. Three subtypes are known: mild autosomal dominant form (type 1); cloverleaf skull, elbow ankylosis, early death, sporadic (type 2); craniosynostosis, early demise, sporadic (type 3).
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 receptors (PubMed:20078863). Likely involved in the processes that promote cell division prior to the formation of differentiated tissues
CytoplasmNucleusCytoplasm, cytoskeleton, microtubule organizing center, centrosomeMidbodyMembrane
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, PubMed:15340061, PubMed:17317671, PubMed:17349958, PubMed:19556538, PubMed:20673990, PubMed:20959462, PubMed:22726440, PubMed:24051492, PubMed:24652652, PubMed:35618207, PubMed:36634798, PubMed:38653238, PubMed:9840937). Acts as a tumor suppressor in many tumor types; induces growth arrest or apop
CytoplasmNucleusNucleus, PML bodyEndoplasmic reticulumMitochondrion matrixCytoplasm, cytoskeleton, microtubule organizing center, centrosome
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 in sperm head formation during spermiogenesis, potentially via facilitating localization of ACTN4 to cell filaments (PubMed:33228246)
CytoplasmCytoplasm, cytoskeletonCell projection, axonCell projection, dendritePerikaryonCytoplasm, perinuclear regionCytoplasmic vesicle, secretory vesicle, acrosome
Variantes genéticas (ClinVar)
1,796 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 7 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
121 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Glioblastoma de células gigantes
Selecione um estado ou use sua localização para ver resultados.
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
Pesquisa e ensaios clínicos
341 ensaios clínicos encontrados, 1 ativos.
Publicações mais relevantes
Clinicopathologic, molecular and tumor immune microenvironment features of mismatch repair-deficient glioblastomas in Lynch syndrome: a multicenter study of 29 cases with therapeutic implications.
Glioblastoma (GBM) is a relatively rare manifestation of Lynch syndrome (LS), and its defining characteristics are not yet fully defined. This study employs an integrated analysis of the clinicopathological, molecular, and tumor immune microenvironment features of LS-GBMs to elucidate its distinct biology and inform diagnostic and therapeutic strategies. We collected GBM samples from 29 LS patients across multiple medical centers. Germline MMR gene testing confirmed the following mutations among the 29 LS-GBM cases: MSH2 (16 cases, 55.2%), MLH1 (6 cases, 20.7%), MSH6 (4 cases, 13.8%), and PMS2 (1 case, 3.4%). Two cases (6.9%) exhibited no detectable pathogenic germline variants. Patients presented at a mean age of 45.7 years (range 10–69), significantly younger than those with IDH-mutant astrocytoma (WHO grade 4) (P < 0.05) or conventional IDH-wildtype GBMs (IDH-wt cGBMs; P < 0.001). Notably, IDH-wt LS-GBMs demonstrated superior overall survival compared to IDH-wt cGBMs (P < 0.05). Histopathologically, 96.6% (28/29) of cases displayed multinucleated giant cells, with 89.7% (26/29) exhibiting a wreath-like nuclear pattern. Additionally, 58.6% (17/28) demonstrated areas with oligodendroglioma-like characteristics. Molecular profiling revealed high-frequency mutations in TP53 (82.8%, 24/29) and SETD2 (53.6%, 15/28), suggesting concomitant dysregulation of cell cycle control and chromatin remodeling pathways. Furthermore, frequent pathogenic mutations were observed in NF1 (64.3%, 18/28), along with activating mutations in PDGFRA (39.3%, 11/28) and EGFR (32.1%, 9/29), suggesting tumor proliferation and invasion driven by receptor tyrosine kinase (RTK) signaling, such as the Ras/MAPK pathway. Moreover, the MMR-deficient state results in a high tumor mutational burden (100%, 16/16, ≥ 10 muts/Mb) and an inflamed tumor microenvironment with abundant CD8+ T-cell and CD163+ macrophages infiltration. Our findings establish LS-GBMs as a distinct molecular subtype of GBM, driven by convergent defects in DNA repair, cell cycle regulation, and RTK signaling, and highlighted by an immunogenic microenvironment. An integrated diagnostic approach is crucial for its identification, and tailored therapeutic strategies, including immune checkpoint inhibitors and targeted agents, should be explored. The online version contains supplementary material available at 10.1186/s40478-026-02246-6.
Pediatric Oncology Patients With Germline Pathogenic Variants in Adult-Onset Cancer Predisposition Genes.
Cancer predisposition syndromes caused by germline pathogenic variants (GPV) in adult-onset cancer predisposition genes (aoCPG) are those for which there is low risk of cancer in children, with genetic testing and screening for these conditions typically deferred until adulthood. GPV in aoCPG have been identified in pediatric oncology patients, but in these cases the potential contribution of the aoCPG to cancer development is often unknown. We investigated the role GPV in aoCPG may play in childhood cancer development. Results of paired tumor-germline sequencing from pediatric oncology patients enrolled from May 2012 to October 2023 were analyzed for frequency of GPV in aoCPG. Germline testing included analysis of up to 182 cancer predisposition genes. Tumor loss-of-heterozygosity, presence of second somatic pathogenic variant, immunohistochemical stain for protein expression, and/or tumor mutation burden were used to determine possible causation. Of the 954 participants, 42 (4.4%) had GPV in aoCPG. Six (14.3%) of these 42 participants had tumor findings indicating their GPV in an aoCPG likely contributed to cancer development: three patients with Lynch syndrome (two anaplastic astrocytomas, one giant cell glioblastoma) and one each with GPV in ATM (craniopharyngioma and diffuse high-grade glioma), BRIP1 (atypical teratoid rhabdoid tumor), and CHEK2 (mixed germ cell tumor of pineal gland). These findings contribute to the literature suggesting that, rarely, GPV in aoCPG may contribute to cancer diagnoses in children, raising the question of how tumors in these cases may present differently in children than adults. Increased knowledge about potential childhood cancer risks related to what have historically been considered aoCPG could modify predictive genetic testing recommendations for children and enhance existing cancer screening protocols.
A Novel Germline MUTYH Mutation (p.W156∗) in High-Grade Astrocytoma, IDH Mutant.
Germline mutations in the DNA repair gene E. coli MutY homolog (MUTYH) are established predisposing factors for colorectal polyposis, colorectal carcinoma, and various extracolonic malignancies. Nevertheless, the association between MUTYH mutations and central nervous system (CNS) tumorigenesis remains poorly characterized. In this study, we reported the first identification of a novel c.467G > A (p.W156∗) MUTYH variant in two patients with high-grade astrocytoma, IDH mutant, which was classified as pathogenic. Histopathological evaluation revealed tumor morphologies consistent with either diffuse glioma or giant cell glioblastoma. Comparative analysis with mismatch repair (MMR)-deficient tumors demonstrated that patients carrying MUTYH mutations exhibited microsatellite stability, relatively low tumor mutation burden (TMB), and an immunosuppressive microenvironment, indicating difficulties in benefiting from immunotherapy. Fortunately, gain of Chromosome 7, in association with amplification of the MET gene, was detected, underscoring the possible application of targeted drugs. Integrating previous studies, we summarized germline MUTYH mutations in 11 cases of high-grade neuroepithelial tumors (eight gliomas and three medulloblastomas). This cohort demonstrated a predilection for pediatric and young adult populations without significant gender predominance. Our findings suggested a potential association between germline MUTYH mutations and CNS tumor susceptibility.
EPR25-124: Epidemiology of Giant Cell Glioblastoma: A Surveillance, Epidemiology, and End Results (SEER) Analysis.
DNA methylation-based analysis reveals accelerated epigenetic aging in giant cell-enriched adult-type glioblastoma.
Giant cell (gc)-enriched glioblastoma (gcGB) represents a distinct histological variant of isocitrate dehydrogenase wild-type adult-type glioblastoma with notable enlarged mono- or multinuclear tumor cells. While some studies suggest a survival advantage for gcGB patients, the underlying causes remain elusive. GcGBs are associated with TP53 mutations, and gcs were shown to accumulate DNA double-strand breaks and show deficient mitosis, potentially triggering cellular senescence programs. Epigenetic clocks have emerged as valuable tools for assessing tumor-induced age acceleration (DNAMethAgeAcc), which has lately proved itself as prognostic biomarker in glioblastoma. Our study aimed to comprehensively analyze the methylome and key metabolic proteins of gcGBs, hypothesizing that they undergo cellular aging programs compared to non-gcGBs. A total of 310 epigenetically classified GBs, including 26 gcGBs, and nine adults with malignant gliomas allocating to pediatric high-grade glioma molecular subclasses (summarized as "pediatric GB") were included. DNAMethAgeAcc was computed by subtraction of chronological patient ages from DNA methylome-derived age estimations and its increase was associated with better survival within gcGB and non-gcGB. GcGBs were significantly more often allocated to the subgroup with increased DNAMethAgeAcc and demonstrated the highest DNAMethAgeAcc. Hypothetical senescence/aging-induced changes of the tumor microenvironment were addressed by tumor deconvolution, which was able to identify a cluster enriched for tumors with increased DNAMethAgeAcc. Key metabolic protein expression did not differ between gcGB and non-gcGB and tumor with versus without increased DNAMethAgeAcc but for elevated levels of one single mitochondrial marker, anti-mitochondrial protein MT-C02, in gcGBs. With its sped-up epigenetic aging, gcGB presented as the epigenetic oldest GB variant in our cohort. Whereas the correlation between accelerated tumor-intrinsic epigenetic aging and cellular senescence in gcGB stays elusive, fostering epigenetic aging programs in GB might be of interest for future exploration of alternative treatment options in GB patients.
Publicações recentes
Clinicopathologic, molecular and tumor immune microenvironment features of mismatch repair-deficient glioblastomas in Lynch syndrome: a multicenter study of 29 cases with therapeutic implications.
Pediatric Oncology Patients With Germline Pathogenic Variants in Adult-Onset Cancer Predisposition Genes.
A Novel Germline MUTYH Mutation (p.W156∗) in High-Grade Astrocytoma, IDH Mutant.
DNA methylation-based analysis reveals accelerated epigenetic aging in giant cell-enriched adult-type glioblastoma.
Long-term survival in a patient with Li-Fraumeni syndrome-associated giant cell glioblastoma treated with nivolumab: illustrative case.
📚 EuropePMC88 artigos no totalmostrando 57
Clinicopathologic, molecular and tumor immune microenvironment features of mismatch repair-deficient glioblastomas in Lynch syndrome: a multicenter study of 29 cases with therapeutic implications.
Acta neuropathologica communicationsPediatric Oncology Patients With Germline Pathogenic Variants in Adult-Onset Cancer Predisposition Genes.
JCO precision oncologyA Novel Germline MUTYH Mutation (p.W156∗) in High-Grade Astrocytoma, IDH Mutant.
Human mutationEPR25-124: Epidemiology of Giant Cell Glioblastoma: A Surveillance, Epidemiology, and End Results (SEER) Analysis.
Journal of the National Comprehensive Cancer Network : JNCCNDNA methylation-based analysis reveals accelerated epigenetic aging in giant cell-enriched adult-type glioblastoma.
Clinical epigeneticsLong-term survival in a patient with Li-Fraumeni syndrome-associated giant cell glioblastoma treated with nivolumab: illustrative case.
Journal of neurosurgery. Case lessonsCase report: Germline CHEK2 mutation is associated with a giant cell glioblastoma.
Frontiers in oncologyA case report with discussion on the treatment of giant cell glioblastoma.
Asian journal of surgeryGiant cell glioblastoma with lipogenic differentiation in a patient with neurofibromatosis type 1: A case report.
Neuropathology : official journal of the Japanese Society of Neuropathology"De novo replication repair deficient glioblastoma, IDH-wildtype" is a distinct glioblastoma subtype in adults that may benefit from immune checkpoint blockade.
Acta neuropathologicaUltra High-plex Spatial Proteogenomic Investigation of Giant Cell Glioblastoma Multiforme Immune Infiltrates Reveals Distinct Protein and RNA Expression Profiles.
Cancer research communicationsClinicopathological and Immunohistochemistry Study of a Long Survivor of Giant Cell Glioblastoma in a Patient With Neurofibromatosis 1: Case Report.
CureusGlioblastoma with Unusual Features: Presentation with Intracerebral Hematoma, Diagnosis with CT Perfusion and Subsequent Cerebral Venous Sinus Thrombosis with Resultant New Hemorrhage.
Journal of clinical practice and researchNot All Monstrous Cells Indicate Glioblastoma: A Neuropathological Case Report of Pleomorphic Xanthoastrocytoma Misdiagnoses As Giant Cell Glioblastoma.
CureusMorphogenetic and Imaging Characteristics in Giant Cell Glioblastoma.
Current oncology (Toronto, Ont.)Gliosarcoma with unusual glial components: Two case reports.
Neuropathology : official journal of the Japanese Society of NeuropathologyGlioblastoma: Changing concepts in the WHO CNS5 classification.
Indian journal of pathology & microbiologyCase report: Awake craniotomy during pregnancy for resection of glioblastoma.
Clinical neurology and neurosurgeryPediatric Giant Cell Glioblastoma Presenting with Intracranial Dissemination at Diagnosis: A Case Report.
NMC case report journalIDH-wild type glioblastomas featuring at least 30% giant cells are characterized by frequent RB1 and NF1 alterations and hypermutation.
Acta neuropathologica communicationsEpidemiologic Features, Survival, and Prognostic Factors Among Patients With Different Histologic Variants of Glioblastoma: Analysis of a Nationwide Database.
Frontiers in neurologySMARCAL1 loss and alternative lengthening of telomeres (ALT) are enriched in giant cell glioblastoma.
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, IncPrimary Intracranial Leiomyosarcoma Secondary to Glioblastoma: Case Report and Literature Review.
Frontiers in oncologyCyclin D1 expression in ganglioglioma, pleomorphic xanthoastrocytoma and pilocytic astrocytoma.
Experimental and molecular pathologyNear haploidization is a genomic hallmark which defines a molecular subgroup of giant cell glioblastoma.
Neuro-oncology advancesGiant cell glioblastoma multiforme presents as acute pathological nontraumatic subdural haematoma.
British journal of neurosurgeryGiant cell glioblastoma in 6-year-old kid: Report of an unusual case.
Clinical case reportsDifferentiating Giant Cell Glioblastoma from Classic Glioblastoma With Diffusion-Weighted Imaging.
World neurosurgeryCharacterization and Histological Examination of a Rare Giant Cell Glioblastoma.
CureusTP53, ATRX alterations, and low tumor mutation load feature IDH-wildtype giant cell glioblastoma despite exceptional ultra-mutated tumors.
Neuro-oncology advancesUpdate on Circumscribed Gliomas and Glioneuronal Tumors.
Surgical pathology clinicsGiant cell glioblastoma is a distinctive subtype of glioma characterized by vulnerability to DNA damage.
Brain tumor pathologySubgaleal and brain abscesses due to Salmonella enteritidis following craniotomy for giant cell glioblastoma multiforme: A case report and literature review.
Surgical neurology internationalAssociation between giant cell glioblastoma and glioblastoma multiforme in the United States: A retrospective cohort study.
Brain and behaviorAn Unusual Presentation of Spinal Giant Cell Glioblastoma in a 21-Year-Old Female.
Journal of investigative medicine high impact case reportsPrognostic Factors and Treatment Patterns in the Management of Giant Cell Glioblastoma.
World neurosurgeryWhole-exome sequencing revealed mutational profiles of giant cell glioblastomas.
Brain pathology (Zurich, Switzerland)Giant cell glioblastoma with spinal and spinal leptomeningeal metastasis in a child: A rare presentation of a rare tumor.
Journal of craniovertebral junction & spineGermline mutation p.N363K in POLE is associated with an increased risk of colorectal cancer and giant cell glioblastoma.
Familial cancerGlioblastoma in the setting of prior lower grade gliomas - insights from SEER database.
OncotargetImaging findings in the progression of a giant cell glioblastoma.
Radiology case reportsAcute lymphoblastic leukemia following temozolomide treatment in a patient with glioblastoma: A case report and review of the literature.
Oncology lettersGiant Cell Glioblastoma in a Child with Clinical and Family History of Neurofibromatosis.
Asian journal of neurosurgeryIDH-mutant giant cell glioblastoma: A neglected tumor variant?
Clinical neuropathologyRisk of subsequent cancer among pediatric, adult and elderly patients following a primary diagnosis of glioblastoma multiforme: a population-based study of the SEER database.
The International journal of neuroscienceIntraventricular gliosarcoma with dual sarcomatous differentiation: A unique case.
Neuropathology : official journal of the Japanese Society of NeuropathologyIncidence, survival, pathology, and genetics of adult Latino Americans with glioblastoma.
Journal of neuro-oncologyRadiologic Dilemma in an Extra-Axial Petroclival Lesion: Low Grade versus High Grade.
World neurosurgeryMGMT Promoter Methylation and BRAF V600E Mutations Are Helpful Markers to Discriminate Pleomorphic Xanthoastrocytoma from Giant Cell Glioblastoma.
PloS oneIntraoperative Squash Cytologic Features of Subependymal Giant Cell Astrocytoma.
Journal of laboratory physiciansGiant cell glioblastoma with calcification and long-term survival.
Indian journal of cancerGenetic Alterations in Gliosarcoma and Giant Cell Glioblastoma.
Brain pathology (Zurich, Switzerland)A spontaneously occurring malignant pituicytoma in a male sprague dawley rat.
Journal of toxicologic pathologyPediatric Giant Cell Glioblastoma Mimicking Hemorrhage Secondary to Ischemic Stroke.
Pediatric neurologyGiant cells glioblastoma: case report and pathological analysis from this uncommon subtype of glioma.
Rare tumorsAdult classical glioblastoma with a BRAF V600E mutation.
World journal of surgical oncology[Gliosarcoma of cerebral hemispheres: a clinicopathologic study of 10 cases].
Zhonghua bing li xue za zhi = Chinese journal of pathologyAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
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Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Clinicopathologic, molecular and tumor immune microenvironment features of mismatch repair-deficient glioblastomas in Lynch syndrome: a multicenter study of 29 cases with therapeutic implications.
- Pediatric Oncology Patients With Germline Pathogenic Variants in Adult-Onset Cancer Predisposition Genes.
- A Novel Germline MUTYH Mutation (p.W156∗) in High-Grade Astrocytoma, IDH Mutant.
- EPR25-124: Epidemiology of Giant Cell Glioblastoma: A Surveillance, Epidemiology, and End Results (SEER) Analysis.
- DNA methylation-based analysis reveals accelerated epigenetic aging in giant cell-enriched adult-type glioblastoma.
- Long-term survival in a patient with Li-Fraumeni syndrome-associated giant cell glioblastoma treated with nivolumab: illustrative case.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:251579(Orphanet)
- MONDO:0016682(MONDO)
- GARD:20705(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q18555280(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
