ArticleNeuro-oncology2024
Novel molecular subtypes of intracranial germ cell tumors expand therapeutic opportunities.
Article in Neuro-oncology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed.
- Overlapping genetic etiology of pediatric and adult germ cell tumors.Journal of the National Cancer Institute · 2026Article
- Comprehensive characterization and prognostic analysis of multifocal intracranial germ cell tumors.BMC neurology · 2026Article
- Article
- The mechanistic role of Wilms tumor 1-associated protein in cancer pathogenesis, immunity, immunotherapy, and therapy resistance.Investigational new drugs · 2026Review
- Crosstalk of cancer stemness-neutrophils in outcome of intracranial germ cell tumors.Frontiers in immunology · 2026Article
- Global, regional, and national burden of brain and other central nervous system cancers from 1990 to 2021, and projections to 2035: a systematic analysis for the global burden of disease study 2021.International journal of surgery (London, England) · 2026Article
- Tracing metastatic spread in pediatric solid tumors using copy number and targeted deep sequencing.The Journal of pathology · 2025Article
- Long-term trends and disparities in primary intracranial germ cell tumor incidence and mortality for child and adolescent in the USA.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2025Article
- An integrated cerebrospinal fluid beta-human chorionic gonadotropin and atrophy-targeted magnetic resonance imaging strategy to reduce diagnostic delays in bilateral basal ganglia germinomas: A case series.The Journal of international medical research · 2025Article
- A novel perspective on dissemination: somatic metastasis of germ cell tumors from the central nervous system.Discover oncology · 2025Article
- Intracranial germ cell tumors: advancement in genomic diagnostics and the need for novel therapeutics.Frontiers in oncology · 2025Review
- The clinical significance of T cell infiltration and immune checkpoint expression in central nervous system germ cell tumors.Frontiers in immunology · 2025Article
- CNS Germ Cell Tumors: Molecular Advances, Significance in Risk Stratification and Future Directions.Brain sciences · 2024Review
- Pre-treatment journey and outcome for children with intracranial non-germinomatous germ cell tumors-the Shanghai experience.Neuro-oncology advancesArticle
Corrections and comments
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Authors and funding
16 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundIntracranial germ cell tumors (IGCTs) are a rare group of malignancies that are clinically classified as germinomas and nongerminomatous germ cell tumors (NGGCTs). Previous studies have found that somatic mutations involving the mitogen-activated protein kinase/mTOR signaling pathway are common early events. However, a comprehensive genomic understanding of IGCTs is still lacking.
methodsWe established a cohort including over 100 IGCTs and conducted genomic and transcriptomic sequencing.
resultsWe identified novel recurrent driver genomic aberrations, including USP28 truncation mutations and high-level copy number amplification of KRAS and CRKL caused by replication of extrachromosomal DNA. Three distinct subtypes associated with unique genomic and clinical profiles were identified with transcriptome analysis: Immune-hot, MYC/E2F, and SHH. Both immune-hot and MYC/E2F were predominantly identified in germinomas and shared similar mutations involving the RAS/MAPK signaling pathway. However, the immune-hot group showed an older disease onset age and a significant immune response. MYC/E2F was characterized by a younger disease onset age and increased genomic instability, with a higher proportion of tumors showing whole-genome doubling. Additionally, the SHH subtype was mostly identified in NGGCTs.
conclusionsNovel genomic aberrations and molecular subtypes were identified in IGCTs. These findings provide molecular basis for the potential introduction of new treatment strategies in this setting.
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