ArticleActa neuropathologica2013
TERT promoter mutations are highly recurrent in SHH subgroup medulloblastoma.
Article in Acta neuropathologica, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 94 papers, 2 of them syntheses that pooled it.
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94 citing papers in PubMed, 2 syntheses or guidelines pooled it, 166 citations in OpenAlex.
- Association of Telomerase Reverse Transcriptase Promoter Mutations with the Prognosis of Glioma Patients: a Meta-Analysis.Molecular neurobiology · 2016Pooled it
- Clinical Characteristics and Prognostic Significance of TERT Promoter Mutations in Cancer: A Cohort Study and a Meta-Analysis.PloS one · 2016Pooled it
- Molecular and clinical features of a Japanese medulloblastoma cohort: Subgroup-specific prognostic stratification using economical/accessible diagnostic methods.Brain pathology (Zurich, Switzerland) · 2026Article
- Blood circulating C228T TERT gene promoter mutation is an independent factor for the prognosis of HBV-related hepatocellular carcinoma.BMC cancer · 2026Article
- Article
- Medulloblastoma in Adolescents and Young Adults: Molecular Subgroups, Prognostic Biomarkers, and Age-Specific Therapeutic Challenges.Current issues in molecular biology · 2026Review
- Advancing Medulloblastoma Therapy in Pediatrics: Integrative Molecular Classification and Emerging Treatments.Brain sciences · 2025Review
- A Rare Presentation of Adult Primary Leptomeningeal Medulloblastoma: Case Report.Case reports in pathology · 2025Article
- Early rhombic lip ProtogeninCell · 2024Article
- Review
- Using evolutionary constraint to define novel candidate driver genes in medulloblastoma.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- Medulloblastoma in adults: evaluation of the Dutch society for neuro-oncology treatment protocol.Journal of neuro-oncology · 2023Article
- Revana: a comprehensive tool for regulatory variant analysis and visualization of cancer genomes.Bioinformatics (Oxford, England) · 2023Article
- Research progress in molecular pathology markers in medulloblastoma.Exploration of targeted anti-tumor therapy · 2023Review
- Linked-read based analysis of the medulloblastoma genome.Frontiers in oncology · 2023Article
- Malignant Spinal Tumors.Advances in experimental medicine and biology · 2023Article
- Associations between TERT Promoter Mutations and Survival in Superficial Spreading and Nodular Melanomas in a Large Prospective Patient Cohort.The Journal of investigative dermatology · 2022Article
- GABP couples oncogene signaling to telomere regulation in TERT promoter mutant cancer.Cell reports · 2022Article
- Review
- Prognostic significance of TERT promoter mutations in adult-type diffuse gliomas.Brain tumor pathology · 2022Review
34 more citing papers are in PubMed but not listed here.
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83 authors at 20 institutions in 14 countries.
Funding
Abstract
Telomerase reverse transcriptase (TERT) promoter mutations were recently shown to drive telomerase activity in various cancer types, including medulloblastoma. However, the clinical and biological implications of TERT mutations in medulloblastoma have not been described. Hence, we sought to describe these mutations and their impact in a subgroup-specific manner. We analyzed the TERT promoter by direct sequencing and genotyping in 466 medulloblastomas. The mutational distributions were determined according to subgroup affiliation, demographics, and clinical, prognostic, and molecular features. Integrated genomics approaches were used to identify specific somatic copy number alterations in TERT promoter-mutated and wild-type tumors. Overall, TERT promoter mutations were identified in 21 % of medulloblastomas. Strikingly, the highest frequencies of TERT mutations were observed in SHH (83 %; 55/66) and WNT (31 %; 4/13) medulloblastomas derived from adult patients. Group 3 and Group 4 harbored this alteration in <5 % of cases and showed no association with increased patient age. The prognostic implications of these mutations were highly subgroup-specific. TERT mutations identified a subset with good and poor prognosis in SHH and Group 4 tumors, respectively. Monosomy 6 was mostly restricted to WNT tumors without TERT mutations. Hallmark SHH focal copy number aberrations and chromosome 10q deletion were mutually exclusive with TERT mutations within SHH tumors. TERT promoter mutations are the most common recurrent somatic point mutation in medulloblastoma, and are very highly enriched in adult SHH and WNT tumors. TERT mutations define a subset of SHH medulloblastoma with distinct demographics, cytogenetics, and outcomes.
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