Subtype
Medulloblastoma Molecular Subtypes
CI-CAN-00003294Explore in graph →
- NCIt
- C129439
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Subtype
CI-CAN-00003294Explore in graph →
Variants & evidence
6 evidence items mapped to this entity or its descendants, grouped by molecular profile, then therapy. 50 items per page.
| Therapy | Cancer | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| CTNNB1 D32Y1 | ||||||||
| (prognostic) | Medulloblastoma, WNT-Activated | Prognostic | C | Supports Better Outcome | 3 | submitted | EID9017A retrospective study evaluated 72 pediatric medulloblastoma patients for CTNNB1 mutations (by direct sequencing), copy number alterations (by array-comparative genomic hybridization), and beta-cateni… (full text at CIViC) PMID 19197950 · Fattet et al., 2009 · Open in CIViC | civic |
| SNCAIP Tandem duplication1 | ||||||||
| (diagnostic) | Medulloblastoma, Non-WNT/Non-SHH, Group 4 | Diagnostic | B | Supports Positive | 3 | submitted | EID11193Analysis of somatic copy number alterations (SCNAs) in 1087 medulloblastoma tumours identified a recurrent tandem duplication of SNCAIP that was restricted to Group 4 medulloblastoma. SNCAIP duplicati… (full text at CIViC) PMID 22832581 · Northcott et al., 2012 · Open in CIViC | civic |
| TP53 Mutation4 | ||||||||
| (predisposing) | Medulloblastoma, SHH-Activated, TP53-MutantALIAS | Predisposing | B | Supports Predisposition | 5 | submitted | EID8346This international, multicenter study analyzed patients with medulloblastoma (MB) from both retrospective and prospective cohorts in order to identify consensus MB predisposition genes. A total of 102… (full text at CIViC) PMID 29753700 · Waszak et al., 2018 · Open in CIViC | civic |
| (prognostic) | Medulloblastoma, SHH-Activated | Prognostic | B | Supports Poor Outcome | 5 | accepted | EID8347In the childhood (≥4.3 years) SHH-MB subgroup, TP53 mutations (n=13) are associated with shorter progression-free survival (PFS) compared to the no mutation group (n=35) (HR, 3.47; 95% CI, 1.29 to 9.3… (full text at CIViC) PMID 28545823 · Schwalbe et al., 2017 · Open in CIViC | civic |
| (diagnostic) | Medulloblastoma, SHH-Activated, TP53-MutantALIAS | |||||||
Data updated 23 hours agoSource updated unknownsource: civic (CC0)
Evidence levels, directions and ratings are those assigned by CIViC curators. "Submitted" items have not completed curation review. This is not treatment guidance.
| B |
| Supports Positive |
| 4 |
| submitted |
EID8345One of the goals of this study is to understand the biology of the sonic-hedgehog subgroup of medulloblastoma (SHH-MB) across different age groups. A large cohort of patients (n=133) with SHH-MB, incl… (full text at CIViC) PMID 24651015 · Kool et al., 2014 · Open in CIViC |
| civic |
| Vismodegib | Medulloblastoma, SHH-Activated, TP53-MutantALIAS | Predictive | C | Does Not Support Sensitivity Response | 3 | submitted | EID8348Two phase II studies (PBTC-025B, n=31, age ≥ 22 years; PBTC-032, n=12, age 3-21 years) assessed the targeted efficacy of vismodegib, an SMO inhibitor, in patients with recurrent sonic hedgehog subgrou… (full text at CIViC) PMID 26169613 · Robinson et al., 2015 · Open in CIViC | civic |