{"entity":{"id":"paper-zhukova-tp53-medulloblastoma-jco-2013","kind":"paper","name":"Subgroup-specific prognostic implications of TP53 mutation in medulloblastoma","aka":[],"tldr":"TP53 mutations mark a very poor prognosis in SHH-subgroup medulloblastoma, with five-year survival around 40 percent, but have no effect in WNT tumours, so the mutation must be interpreted alongside the subgroup.","summary":"Analysis of 553 medulloblastomas for TP53 mutation by molecular subgroup in a discovery and validation cohort, finding TP53 mutations in 21 percent of SHH and 16 percent of WNT tumours but rarely in groups 3 and 4.\n\nIn SHH tumours, TP53 mutation was associated with five-year overall survival of 41 percent against 81 percent for wild-type, often with germline mutations (Li-Fraumeni syndrome) and chromothripsis, whereas WNT tumours with TP53 mutations retained excellent survival.","asOf":"2026-09-17","links":[{"label":"J Clin Oncol 2013","url":"https://doi.org/10.1200/JCO.2012.48.5052"},{"label":"PubMed","url":"https://pubmed.ncbi.nlm.nih.gov/23835706/"}],"tags":[],"related":[],"cancers":["medulloblastoma-shh"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":["jco"],"dependsOn":[],"notes":[],"journal":"Journal of Clinical Oncology","year":2013,"doi":"10.1200/JCO.2012.48.5052","pmid":"23835706","authors":"Zhukova N, Ramaswamy V, Remke M, et al.","paperType":"translational","findings":["SHH TP53-mutant: five-year overall survival 41 percent vs 81 percent for wild-type.","WNT TP53-mutant: survival unaffected (90 percent)."],"whatItMeans":"SHH-activated, TP53-mutant medulloblastoma is a separate WHO entity treated as very high risk, and its diagnosis prompts germline testing of the child and family.","caveats":["Retrospective; treatment varied across cohorts."],"changedPractice":true,"participants":553},"route":"/key-papers/paper-zhukova-tp53-medulloblastoma-jco-2013/","neighbours":{"cancer":[{"id":"medulloblastoma-shh","kind":"cancer","name":"SHH-activated medulloblastoma","route":"/cancers/medulloblastoma-shh/"}],"journal":[{"id":"jco","kind":"journal","name":"Journal of Clinical Oncology","route":"/journals/jco/"}]}}