ArticleActa neuropathologica communications2020
Clinical and mutational profiles of adult medulloblastoma groups.
Article in Acta neuropathologica communications, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers.
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Who cites it
35 citing papers in PubMed, 55 citations in OpenAlex.
- Molecular and clinical features of a Japanese medulloblastoma cohort: Subgroup-specific prognostic stratification using economical/accessible diagnostic methods.Brain pathology (Zurich, Switzerland) · 2026Article
- Outcomes of craniospinal radiotherapy in adult medulloblastoma: survival, long-term toxicities, and quality of life assessment with SF-12 and t-Cog.Strahlentherapie und Onkologie : Organ der Deutschen Rontgengesellschaft ... [et al] · 2026Article
- Strategies for the Molecular Classification of Medulloblastoma.Biomedicines · 2025Review
- Adult-onset medulloblastoma presenting in the setting of untreated spina bifida: illustrative case.Journal of neurosurgery. Case lessons · 2025Article
- Characterizing the Natural History of Pediatric Brain Tumors Presenting with Metastasis.Cancers · 2025Article
- Somatic mutational profiling and clinical impact of driver genes in Latin-Iberian medulloblastomas: Towards precision medicine.Neuropathology : official journal of the Japanese Society of Neuropathology · 2025Article
- Central nervous system tumors in adolescents and young adults: A Society for Neuro-Oncology Consensus Review on diagnosis, management, and future directions.Neuro-oncology · 2025Review
- Clinical and Molecular Characteristics and Outcome of Adult Medulloblastoma at a Tertiary Cancer Center.Cancers · 2024Article
- The Role of the RNA Helicase DDX3X in Medulloblastoma Progression.Biomolecules · 2024Review
- Clinico-Radiological Outcomes in WNT-Subgroup Medulloblastoma.Diagnostics (Basel, Switzerland) · 2024Article
- Histone methyltransferase KMT2D inhibits ENKTL carcinogenesis by epigenetically activating SGK1 and SOCS1.Genes & genomics · 2024Article
- Article
- Case report: A case study of variant calling pipeline selection effect on the molecular diagnostics outcome.Frontiers in oncology · 2024Article
- Pediatric-Like Brain Tumors in Adults.Advances and technical standards in neurosurgery · 2024Review
- The modification role and tumor association with a methyltransferase: KMT2C.Frontiers in immunology · 2024Review
- Management and Long-term Outcomes of Adults With Medulloblastoma: A Single-Center Experience.Neurology · 2023Article
- Mutations in epigenetic regulatorOncology research · 2023Article
- Molecular characterization of an embryonal rhabdomyosarcoma occurring in a patient with Kabuki syndrome: report and literature review in the light of tumor predisposition syndromes.Familial cancer · 2023Review
- Research progress in molecular pathology markers in medulloblastoma.Exploration of targeted anti-tumor therapy · 2023Review
- Long-term outcomes and late toxicity of adult medulloblastoma treated with combined modality therapy: A contemporary single-institution experience.Neuro-oncology · 2022Article
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Authors and funding
16 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Adult medulloblastomas are clinically and molecularly understudied due to their rarity. We performed molecular grouping, targeted sequencing, and TERT promoter Sanger sequencing on a cohort of 99 adult medulloblastomas. SHH made up 50% of the cohort, whereas Group 3 (13%) was present in comparable proportion to WNT (19%) and Group 4 (18%). In contrast to paediatric medulloblastomas, molecular groups had no prognostic impact in our adult cohort (p = 0.877). Most frequently mutated genes were TERT (including promoter mutations, mutated in 36% cases), chromatin modifiers KMT2D (31%) and KMT2C (30%), TCF4 (31%), PTCH1 (27%) and DDX3X (24%). Adult WNT patients showed enrichment of TP53 mutations (6/15 WNT cases), and 3/6 TP53-mutant WNT tumours were of large cell/anaplastic histology. Adult SHH medulloblastomas had frequent upstream pathway alterations (PTCH1 and SMO mutations) and few downstream alterations (SUFU mutations, MYCN amplifications). TERT promoter mutations were found in 72% of adult SHH patients, and were restricted to this group. Adult Group 3 tumours lacked hallmark MYC amplifications, but had recurrent mutations in KBTBD4 and NOTCH1. Adult Group 4 tumours harboured recurrent mutations in TCF4 and chromatin modifier genes. Overall, amplifications of MYC and MYCN were rare (3%). Since molecular groups were not prognostic, alternative prognostic markers are needed for adult medulloblastoma. KMT2C mutations were frequently found across molecular groups and were associated with poor survival (p = 0.002). Multivariate analysis identified histological type (p = 0.026), metastasis (p = 0.031) and KMT2C mutational status (p = 0.046) as independent prognosticators in our cohort. In summary, we identified distinct clinical and mutational characteristics of adult medulloblastomas that will inform their risk stratification and treatment.
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