ArticleJournal of neuro-oncology2020
Targetable molecular alterations in congenital glioblastoma.
Article in Journal of neuro-oncology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 39 citations in OpenAlex.
- MRI-based radiomics for prognosis of non-midline, pediatric high-grade gliomas.Journal of neuro-oncology · 2026Article
- Molecular Feasibility of Gene Sequencing on Lymph Node Fine-Needle Cytology Samples of Non-Hodgkin Lymphoma.International journal of molecular sciences · 2026Article
- A congenital infant-type hemispheric glioma case with EML4::ALK fusion.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2026Article
- Establishment and validation of a recurrent prediction model for glioma: extrinsic apoptotic molecules FADD and CASP8 are closely associated with glioma recurrence.BMC immunology · 2025Article
- A Rare Case of Giant Congenital/Infant-type Hemispheric Glioma Harboring Concomitant ALK and EGFR Alteration.NMC case report journal · 2025Article
- Molecular Analysis of Biliary Tract Cancers with the Custom 3' RACE-Based NGS Panel.Diagnostics (Basel, Switzerland) · 2023Article
- Genomic and epigenomic re-categorization of congenital glioblastoma and desmoplastic infantile ganglioglioma.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2023Article
- PDGFB:APOBEC3C fusion in congenital diffuse high-grade glioma of the brainstem.Journal of neuropathology and experimental neurology · 2023Article
- Case report: ATIC-ALK fusion in infant-type hemispheric glioma and response to lorlatinib.Frontiers in oncology · 2023Article
- Towards a single-assay approach: a combined DNA/RNA sequencing panel eliminates diagnostic redundancy and detects clinically-relevant fusions in neuropathology.Acta neuropathologica communications · 2022Article
- Extra-CNS and dural metastases inNeuro-oncology practice · 2022Article
- Distinct survival and clinical profile of infantile glioblastoma: insights from a national database.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2022Article
- Gliomas in children and adolescents: investigation of molecular alterations with a potential prognostic and therapeutic impact.Journal of cancer research and clinical oncology · 2022Article
- Case of multifocal glioblastoma with four fusion transcripts ofCold Spring Harbor molecular case studies · 2021Article
- Congenital tumors of the central nervous system: an institutional review of 64 cases with emphasis on tumors with unique histologic and molecular characteristics.Brain pathology (Zurich, Switzerland) · 2021Article
- Imaging of fetal brain tumors.Pediatric radiology · 2020Review
- A Unique Case of a High-Grade Neuroepithelial Tumor With EML4-ALK Fusion in a Five-Month-Old.Cureus · 2020Article
- High Genetic Diversity and No Evidence of Clonal Relation in Synchronous Thyroid Carcinomas Associated with Hashimoto's Thyroiditis: A Next-Generation Sequencing Analysis.Diagnostics (Basel, Switzerland) · 2020Article
- Spontaneous regression of a congenital high-grade glioma-a case report.Neuro-oncology advancesArticle
Corrections and comments
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Authors and funding
10 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionCongenital glioblastomas (cGBMs) are uncommon tumors presenting in early infancy, variably defined as diagnosed at birth or at age less than 3 months by strict criteria, or more loosely, as occurring in very young children less than 12 months of age. Previous studies have shown that cGBMs are histologically indistinguishable from GBMs in older children or adults, but may have a more favorable clinical outcome, suggesting biological differences between congenital versus other GBMs. Due to the infrequency of cGBMs, especially when employing strict inclusion criteria, molecular features have not been sufficiently explored.
methodsArcher FusionPlex Solid Tumor Kit, Archer VariantPlex Solid Tumor Kit, Illumina RNAseq were utilized to study cGBMs seen at our institution since 2002. A strict definition for cGBM was utilized, with only infants less than age 3 months at clinical presentation sought for this study.
resultsOf the 8 cGBM cases identified in our files, 7 had sufficient materials for molecular analyses, and 3 of 7 cases analyzed showed fusions of the ALK gene (involving MAP4, MZT2Bex2 and EML4 genes as fusion partners). One case showed ROS1 fusion. Somatic mutations in TSC22D1, BMG1 and DGCR6 were identified in 1 case. None of the cases showed alterations in IDH1/2, histone genes, or the TERT gene, alterations which can be associated with GBMs in older children or adults.
conclusionsOur results show that cGBMs are genetically heterogeneous and biologically different from pediatric and adult GBMs. Identification of ALK and ROS1 raise the possibility of targeted therapy with FDA-approved targeted inhibitors.
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