Congenital Glioblastoma Multiforme: An Unusual and Challenging Tumor

Anestis, Dimitrios M.; Tsitsopoulos, Parmenion P.; Ble, Christina; Tsitouras, Vassilios; Tsonidis, Christos

doi:10.1055/s-0037-1601858

Cited by 16 publications

(8 citation statements)

References 56 publications

(187 reference statements)

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“…Current molecular data is limited, but epidermal growth factor receptor (EGFR) and platelet-derived growth factor receptor A (PDGFRA) expression is reported as uniformly low in congenital glioblastomas (GBM), with a low level or absence of copy number alterations in these genes (18,21). TP53 and PTEN mutations, CDKN2A/B deletions, and other copy number alterations often seen in older children are also not typically found in infant HGG (22). Occasional BRAF V600E mutations are found, particularly in DIGG/DIA (23), while histone and IDH1 mutations are rare.…”

Section: Introductionmentioning

confidence: 99%

Infant High-Grade Gliomas Comprise Multiple Subgroups Characterized by Novel Targetable Gene Fusions and Favorable Outcomes

et al. 2020

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Infant high grade gliomas appear clinically distinct from their counterparts in older children, indicating that histopathologic grading may not accurately reflect the biology of these tumors. We have collected 241 cases under 4 years of age, and carried out histological review, methylation profiling, custom panel and genome/exome sequencing. After excluding tumors representing other established entities or subgroups, we identified 130 cases to be part of an 'intrinsic' spectrum of disease specific to the infant population. These included those with targetable MAP-kinase alterations, and a large proportion of remaining cases harboring gene fusions targeting ALK (n=31), NTRK1/2/3 (n=21), ROS1 (n=9) and MET (n=4) as their driving alterations, with evidence of efficacy of targeted agents in the clinic. These data strongly supports the concept that infant gliomas require a change in diagnostic practice and management.

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Section: Introductionmentioning

confidence: 99%

Infant High-Grade Gliomas Comprise Multiple Subgroups Characterized by Novel Targetable Gene Fusions and Favorable Outcomes

et al. 2020

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“…No down-regulation of phosphatase and tensin homolog (PTEN) or up-regulation of MYCN proto-oncogene, BHLH transcription factor (MYCN) was suggested from the cGBM gene expression data. On the contrary, EGFR and PDGFRa alterations, including amplification or mutations, have been reported in 57% and 13% of aGBMs, respectively, as well as frequent PTEN mutations/deletions and gains of MYCN [30]. None of the patients with cGBMs had the recently described histone H3.3 mutations found in pGBMs, which are instead extremely rare in aGBMs [35].…”

Section: Neuropathology and Molecular Characteristics Of Ihggsmentioning

confidence: 94%

“…In cGBM, the expression of EGFR and PDGFRa is low with a rare occurrence of copy number alterations in these genes [27,29]. In addition, while mutations in TP53 and PTEN and CDKN2A/B deletions are often seen in older children they are typically not found infant HGG [30]. Even IDH1 mutations are rare while occasional BRAF (B-Raf proto-oncogene, serine/threonine kinase) V600E mutations can be found [31].…”

Section: Neuropathology and Molecular Characteristics Of Ihggsmentioning

confidence: 99%

Infantile/Congenital High-Grade Gliomas: Molecular Features and Therapeutic Perspectives

et al. 2020

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Brain tumors in infants account for less than 10% of all pediatric nervous system tumors. They include tumors diagnosed in fetal age, neonatal age and in the first years of life. Among these, high-grade gliomas (HGGs) are a specific entity with a paradoxical clinical course that sets them apart from their pediatric and adult counterparts. Currently, surgery represents the main therapeutic strategy in the management of these tumors. Chemotherapy does not have a well-defined role whilst radiotherapy is rarely performed, considering its late effects. Information about molecular characterization is still limited, but it could represent a new fundamental tool in the therapeutic perspective of these tumors. Chimeric proteins derived from the fusion of several genes with neurotrophic tyrosine receptor kinase mutations have been described in high-grade gliomas in infants as well as in neonatal age and the recent discovery of targeted drugs may change the long-term prognosis of these tumors, along with other target-driven therapies. The aim of this mini review is to highlight the recent advances in the diagnosis and treatment of high-grade gliomas in infants with a particular focus on the molecular landscape of these neoplasms and future clinical applications.

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“…Betweenness Centrality (BC) Evidence-Based Complementary and Alternative Medicine represented the probability of the signal going through the node. e higher the BC value, the more the number of neighbors, and hence the more prominent the node [18].…”

Section: Targets Are Interrelated To Radix Salviae Treatment Ofmentioning

confidence: 99%

A System Bioinformatics Approach Predicts the Molecular Mechanism Underlying the Course of Action of Radix Salviae Reverses GBM Effects

Sun

et al. 2021

Evidence-Based Complementary and Alternative Medicine

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Objective. This study used in vitro techniques to investigate the therapeutic effect of Radix Salviae on human glioblastoma and decode its underlying molecular mechanism. Methods. The active components and targets of the Radix Salviae were identified from the Traditional Chinese Medicine Systems Pharmacology Database (TCMSP). The targets of human glioblastoma were obtained from the GeneCards Database. The Radix Salviae-mediated antiglioblastoma was evaluated by Gene Ontology (GO) analyses and Kyoto Encyclopedia of Genes and Genomes pathway enrichment analyses. Finally, mechanism of action of Radix Salviae against human glioblastoma was deduced by molecular docking and experiments. Results. We screened 66 active ingredients and 45 targets of the Radix Salviae. The enrichment analysis based on the targets mentioned above suggested a possible role in protein phosphorylation, cell transcription, apoptosis, and inflammatory factor signaling pathways. Further study demonstrated that cryptotanshinone, an essential component of Radix Salviae, played a significant role in killing human glioblastoma cells and protecting the body by inhibiting the AKT, IKB, and STAT3 signaling pathways. Conclusions. Radix Salviae could inhibit the proliferation and invasion of human glioblastoma by regulating STAT3, Akt, and IKB signaling pathways. Radix Salviae has potential therapeutic value in the future for human glioblastoma.

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Congenital Glioblastoma Multiforme: An Unusual and Challenging Tumor

Cited by 16 publications

References 56 publications

Infant High-Grade Gliomas Comprise Multiple Subgroups Characterized by Novel Targetable Gene Fusions and Favorable Outcomes

Infant High-Grade Gliomas Comprise Multiple Subgroups Characterized by Novel Targetable Gene Fusions and Favorable Outcomes

Infantile/Congenital High-Grade Gliomas: Molecular Features and Therapeutic Perspectives

A System Bioinformatics Approach Predicts the Molecular Mechanism Underlying the Course of Action of Radix Salviae Reverses GBM Effects

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