ArticleNeuro-oncology2022
Transcriptome and methylome analysis of CNS germ cell tumor finds its cell-of-origin in embryogenesis and reveals shared similarities with testicular counterparts.
Article in Neuro-oncology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 29 citations in OpenAlex.
- Phase II trial of pathology-based tripartite treatment stratification for patients with CNS germ cell tumors: A long-term follow-up study.Neuro-oncology · 2025Trial
- Germinoma in late adulthood with extensive dissemination: a case report and literature review.Brain tumor pathology · 2026Article
- Comparative Molecular and Genetic Landscape of Gonadal Germ Cell Tumors: Insights from Testicular and Ovarian Neoplasms.Cancers · 2026Review
- Crosstalk of cancer stemness-neutrophils in outcome of intracranial germ cell tumors.Frontiers in immunology · 2026Article
- Histopathology and Molecular Pathology of Pineal Region Tumors.Advances and technical standards in neurosurgery · 2026Review
- Heterozygous Germline Fanconi Anemia-Related Gene Mutations Increase Susceptibility to Germ Cell Tumors.JCO precision oncology · 2025Article
- Review
- Nasal immature teratoma in an elderly patient: Clinicopathological and epigenetic analogies with central nervous system counterparts, alongside genomic divergences.Neuropathology : official journal of the Japanese Society of Neuropathology · 2025Article
- Leveraging genome-wide association studies to better understand the etiology of cancers.Cancer science · 2025Review
- Novel molecular subtypes of intracranial germ cell tumors expand therapeutic opportunities.Neuro-oncology · 2024Article
- CNS Germ Cell Tumors: Molecular Advances, Significance in Risk Stratification and Future Directions.Brain sciences · 2024Review
- Final report of the phase II NEXT/CNS-GCT-4 trial: GemPOx followed by marrow-ablative chemotherapy for recurrent intracranial germ cell tumors.Neuro-oncology practice · 2024Article
- Article
- Advances in genetic abnormalities, epigenetic reprogramming, and immune landscape of intracranial germ cell tumors.Acta neuropathologica communications · 2023Review
- Intraventricular central neurocytoma molecularly defined as extraventricular neurocytoma: a case representing the discrepancy between clinicopathological and molecular classifications.Brain tumor pathology · 2023Article
- Distinct patterns of copy number alterations may predict poor outcome in central nervous system germ cell tumors.Scientific reports · 2023Article
- Cancer Stem Cells in Tumours of the Central Nervous System in Children: A Comprehensive Review.Cancers · 2023Review
- Leveraging epigenomic patterns to resolve the heterogeneity and origins of CNS germ cell tumors.Neuro-oncology · 2022Article
- Dynamic analysis of immune status in patients with intracranial germ cell tumor and establishment of an immune risk prognostic model.Frontiers in immunology · 2022Article
- Pathogenesis of central nervous system germ cell tumors.Frontiers in oncology · 2022Review
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Authors and funding
38 authors at 18 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundCNS germ cell tumors (GCTs) predominantly develop in pediatric and young adult patients with variable responses to surgery, radiation, and chemotherapy. This study aimed to examine the complex and largely unknown pathogenesis of CNS GCTs.
methodsWe used a combined transcriptomic and methylomic approach in 84 cases and conducted an integrative analysis of the normal cells undergoing embryogenesis and testicular GCTs.
resultsGenome-wide transcriptome analysis in CNS GCTs indicated that germinoma had a transcriptomic profile representative of primitive cells during early embryogenesis with high meiosis/mitosis potentials, while nongerminomatous GCTs (NGGCTs) had differentiated phenotypes oriented toward tissue formation and organogenesis. Co-analysis with the transcriptome of human embryonic cells revealed that germinomas had expression profiles similar to those of primordial germ cells, while the expression profiles of NGGCTs were similar to those of embryonic stem cells. Some germinoma cases were characterized by extensive immune-cell infiltration and high expression of cancer-testis antigens. NGGCTs had significantly higher immune-cell infiltration, characterized by immune-suppression phenotype. CNS and testicular GCTs (TGCTs) had similar mutational profiles; TGCTs showed enhanced copy number alterations. Methylation analysis clustered germinoma/seminoma and nongerminoma/nonseminoma separately. Germinoma and seminoma were co-categorized based on the degree of the tumor microenvironment balance.
conclusionsThese results suggested that the pathophysiology of GCTs was less dependent on their site of origin and more dependent on the state of differentiation as well as on the tumor microenvironment balance. This study revealed distinct biological properties of GCTs, which will hopefully lead to future treatment development.
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