ArticleNature2014
Novel somatic and germline mutations in intracranial germ cell tumours.
Article in Nature, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 116 papers, 2 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
116 citing papers in PubMed, 2 syntheses or guidelines pooled it, 223 citations in OpenAlex.
- The Japan Society for Neuro-Oncology guideline on the diagnosis and treatment of central nervous system germ cell tumors.Neuro-oncology · 2022Guideline
- A Systematic Literature Review of Whole Exome and Genome Sequencing Population Studies of Genetic Susceptibility to Cancer.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2020Pooled it
- Overlapping genetic etiology of pediatric and adult germ cell tumors.Journal of the National Cancer Institute · 2026Article
- Cerebrospinal Fluid Genomic Profiling as an Adjunct in a Case of Intracranial Germinoma: Utility and Limitations.Diagnostics (Basel, Switzerland) · 2026Article
- Interaction Between PRDM14 and CBFA2T2 Supports Pluripotency and Proliferation in Germ Cell Tumors.Cancers · 2026Article
- The future of targeted therapies for pediatric central nervous system tumors.Neuro-oncology advances · 2026Review
- Case Report: Ovarian dysgerminoma mimicking a sex cord-stromal tumor with hyperandrogenism: diagnostic challenges and molecular insights.Frontiers in oncology · 2026Article
- Crosstalk of cancer stemness-neutrophils in outcome of intracranial germ cell tumors.Frontiers in immunology · 2026Article
- Germline Predisposition in Pediatric Central Nervous System Tumors: Insights from a Multigene Panel Study.Oncology research · 2026Article
- Report from the National Pediatric Cancer Foundation - infantile glioma and other non-embryonal central nervous system tumors: evolving molecular advances and current treatment landscape.Frontiers in oncology · 2026Review
- 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
- 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
- Germ cell tumors in children.Virchows Archiv : an international journal of pathology · 2025Review
- 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
- Pharmacoproteogenomic approach identifies on-target kinase inhibitors for cancer drug repositioning.In vitro cellular & developmental biology. Animal · 2024Article
- High detection rate of circulating-tumor DNA from cerebrospinal fluid of children with central nervous system germ cell tumors.Acta neuropathologica communications · 2024Article
- Genomic landscape of adult testicular germ cell tumours in the 100,000 Genomes Project.Nature communications · 2024Article
- Novel molecular subtypes of intracranial germ cell tumors expand therapeutic opportunities.Neuro-oncology · 2024Article
- Update on Cancer Predisposition Syndromes and Surveillance Guidelines for Childhood Brain Tumors.Clinical cancer research : an official journal of the American Association for Cancer Research · 2024Review
56 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
26 authors at 9 institutions in 3 countries.
Funding
Abstract
Intracranial germ cell tumours (IGCTs) are a group of rare heterogeneous brain tumours that are clinically and histologically similar to the more common gonadal GCTs. IGCTs show great variation in their geographical and gender distribution, histological composition and treatment outcomes. The incidence of IGCTs is historically five- to eightfold greater in Japan and other East Asian countries than in Western countries, with peak incidence near the time of puberty. About half of the tumours are located in the pineal region. The male-to-female incidence ratio is approximately 3-4:1 overall, but is even higher for tumours located in the pineal region. Owing to the scarcity of tumour specimens available for research, little is currently known about this rare disease. Here we report the analysis of 62 cases by next-generation sequencing, single nucleotide polymorphism array and expression array. We find the KIT/RAS signalling pathway frequently mutated in more than 50% of IGCTs, including novel recurrent somatic mutations in KIT, its downstream mediators KRAS and NRAS, and its negative regulator CBL. Novel somatic alterations in the AKT/mTOR pathway included copy number gains of the AKT1 locus at 14q32.33 in 19% of patients, with corresponding upregulation of AKT1 expression. We identified loss-of-function mutations in BCORL1, a transcriptional co-repressor and tumour suppressor. We report significant enrichment of novel and rare germline variants in JMJD1C, which codes for a histone demethylase and is a coactivator of the androgen receptor, among Japanese IGCT patients. This study establishes a molecular foundation for understanding the biology of IGCTs and suggests potentially promising therapeutic strategies focusing on the inhibition of KIT/RAS activation and the AKT1/mTOR pathway.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.