{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Chiang J"],"funding":["American Lebanese Syrian Associated Charities","National Cancer Institute","NCI NIH HHS"],"pagination":["e12815"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9295902"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["48(5)"],"pubmed_abstract":["Recent advancements in molecular characterisation have identified four principal molecular groups of medulloblastoma: WNT, SHH, group 3 and group 4. Each has its characteristic clinical features, signature genetic alterations and distinct DNA methylome profiles. Thus far, CTNNB1 mutations have been considered pathognomonic of WNT-activated medulloblastoma. Furthermore, it has been shown that CTNNB1 mutations dominantly drive the WNT-activated phenotype in medulloblastoma, even in the presence of alterations in the SHH pathway. We herein report an illustrative case that challenges this belief-a medulloblastoma with a pathogenic CTNNB1 mutation that otherwise showed the histopathology, immunophenotype and methylation and transcriptomic profiles of an SHH-activated medulloblastoma. Detailed m"],"journal":["Neuropathology and applied neurobiology"],"pubmed_title":["A CTNNB1-altered medulloblastoma shows the immunophenotypic, DNA methylation and transcriptomic profiles of SHH-activated, and not WNT-activated, medulloblastoma."],"pmcid":["PMC9295902"],"funding_grant_id":["P30CA021765","P30 CA021765"],"pubmed_authors":["Furtado LV","Moreira DC","Blackburn PR","Wheeler DA","Pytel NJ","Cardenas M","Shi Z","Chiang J","Liu YC"],"additional_accession":[]},"is_claimable":false,"name":"A CTNNB1-altered medulloblastoma shows the immunophenotypic, DNA methylation and transcriptomic profiles of SHH-activated, and not WNT-activated, medulloblastoma.","description":"Recent advancements in molecular characterisation have identified four principal molecular groups of medulloblastoma: WNT, SHH, group 3 and group 4. Each has its characteristic clinical features, signature genetic alterations and distinct DNA methylome profiles. Thus far, CTNNB1 mutations have been considered pathognomonic of WNT-activated medulloblastoma. Furthermore, it has been shown that CTNNB1 mutations dominantly drive the WNT-activated phenotype in medulloblastoma, even in the presence of alterations in the SHH pathway. We herein report an illustrative case that challenges this belief-a medulloblastoma with a pathogenic CTNNB1 mutation that otherwise showed the histopathology, immunophenotype and methylation and transcriptomic profiles of an SHH-activated medulloblastoma. Detailed m","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Aug","modification":"2025-04-04T20:07:03.027Z","creation":"2025-04-04T20:07:03.027Z"},"accession":"S-EPMC9295902","cross_references":{"pubmed":["35320876"],"doi":["10.1111/nan.12815"]}}