Medulloblastoma (MBL)

Overview

OncoTree lists MBL as Medulloblastoma within Embryonal Tumors (parent EMBT). Note: in this corpus the abbreviation “MBL” appears in the CLL Map cohort referring to Monoclonal B-cell Lymphocytosis; that usage is not the same entity as the OncoTree code MBL.

Cohorts in the corpus

  • cll_broad_2022 enrolled 54 Monoclonal B-cell Lymphocytosis cases alongside 1,095 CLL cases in the integrated 1,148-patient cohort PMID:35927489.

Recurrent alterations

  • No Medulloblastoma-specific alterations are reported in the current corpus PMID:35927489.
  • WGS of 37 pediatric medulloblastoma tumors (PCGP cohort, mbl_pcgp) identified KDM6A, DDX3X, and SMARCA4 as recurrently mutated driver genes using Affymetrix SNP 6.0 and Sanger validation PMID:22722829
  • WES of 92 medulloblastomas (Broad) identified 12 significantly mutated genes including DDX3X (enriched in WNT subgroup), GPS2/BCOR/LDB1 (N-CoR complex), and CTNNB1/PTCH1; low median mutation rate of 0.35/Mb consistent with pediatric tumors PMID:22820256
  • ICJG WGS/WES of 125 pediatric medulloblastomas identified 8 significantly mutated genes (CTNNB1 12%, DDX3X 8%, PTCH1 6%, SMARCA4 5%, KMT2D 5%, TP53 4%, KDM6A 4%, CTDNEP1 3%); tetraploidy found in 54% of Group 3 and 40% of Group 4 tumors; chromatin modifiers altered in 36% of cases; first medulloblastoma fusion genes described PMID:22832583
  • Medulloblastoma (MBL) whole-genome sequencing revealed recurrent somatic mutations and structural variants, including subgroup-specific alterations in WNT, SHH, Group 3, and Group 4 tumors PMID:26760213
  • PIPseq cohort: KDM6A M997fs used for risk-stratification (group 4 classification); PTCH1/SUFU/ZIC3 overexpression identified as SMO-inhibitor target; ATM R189K + K2756* germline variants flagged for increased risk of other cancers PMID:28007021
  • ICGC/MAGIC integrated WGS (n=491) and methylation profiling (n=1,256) of medulloblastoma defined driver events in 76% of Group 3 and 82% of Group 4 cases; identified KBTBD4 hotspot in-frame insertions (Groups 3/4), SNCAIP tandem-duplication-driven PRDM6 enhancer hijacking (17% of Group 4, most prevalent Group 4 driver), and eight DNA-methylation-defined Group 3/4 subtypes. PMID:28726821
  • Germline WES of 372 pediatric cancer patients (Düsseldorf) included brain tumor cases; brain tumors represented 71 of 372 patients (19%); LP/PV carriers included medulloblastoma patient (LPP_01) carrying a monoallelic ATM pLoF LP/PV PMID:29489754

Subtypes

  • Not characterized in this corpus.

Therapeutic landscape

  • Not characterized in this corpus.

Sources

This page was processed by entity-page-writer on 2026-05-15. - PMID:29489754

This page was processed by wiki-cli on 2026-05-15.