Subtype
Infratentorial Neoplasm
CI-CAN-00005577Explore in graph →
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Subtype
CI-CAN-00005577Explore in graph →
Variants & evidence
28 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 |
|---|---|---|---|---|---|---|---|---|
| BRD4 Overexpression1 | ||||||||
| JQ1 | Childhood Medulloblastoma | Predictive | D | Supports Sensitivity Response | 2 | submitted | EID9316Predominantly high-level expression of BRD4 was found in the majority of medulloblastoma cell lines examined (HD-MB3, ONS-76, UW-228, D-341, and D-283); the exception being the Daoy cell line exhibiti… (full text at CIViC) PMID 24231268 · Henssen et al., 2013 · Open in CIViC | civic |
| 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 |
| CTNNB1 Exon 3 Mutation4 | ||||||||
| (prognostic) | MedulloblastomaCURATED_BROADER | Prognostic | B | Supports Better Outcome | 4 | submitted | EID7966In a study of 109 pediatric medulloblastomas, children with medulloblastomas that showed a nucleopositive beta-catenin immunophenotype (27 of 109; 25%) had significantly better overall (OS) and event-… (full text at CIViC) PMID 16258095 · Ellison et al., 2005 · Open in CIViC | civic |
| (diagnostic) | Childhood Medulloblastoma | Diagnostic | B | Supports Positive | 4 | accepted | EID7967A total of 51 medulloblastomas from two independent cohorts (19 and 32 cases) were assessed for evidence of Wnt/Wg pathway activation, alongside a genome-wide analysis of associated copy-number aberra… (full text at CIViC) PMID 17172831 · Clifford et al., 2006 · Open in CIViC | civic |
| (prognostic) | Childhood Medulloblastoma | Prognostic | B | Supports | ||||
| CTNNB1 G34R1 | ||||||||
| (prognostic) | Childhood Medulloblastoma | Prognostic | C | Supports Better Outcome | 3 | submitted | EID9014A 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 |
| CTNNB1 I35K1 | ||||||||
| (prognostic) | Childhood Medulloblastoma | Prognostic | C | Supports Better Outcome | 3 | submitted | EID9016A 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 |
| CTNNB1 S33F1 | ||||||||
| (prognostic) | Childhood Medulloblastoma | Prognostic | C | Supports Better Outcome | 4 | submitted | EID9015A 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 |
| MYC Amplification1 | ||||||||
| (prognostic) | MedulloblastomaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 5 | submitted | EID7048Group 3 medulloblastomas with MYC amplifications are often associated with large cell/anaplastic histology, young patients, and overall poor prognosis. PMID 15328187 · Lamont et al., 2004 · Open in CIViC | civic |
| MYCN Amplification2 | ||||||||
| Arsenic Trioxide | MedulloblastomaCURATED_BROADER | Predictive | D | Supports Sensitivity Response | 3 | submitted | EID5327In a patient derived xenograft from a sonic hedgehog driven medulloblastoma patient, MYCN amplification conferred to resistance to SMO inhibition with Sonidegib. This PDX was shown to be responsive t… (full text at CIViC) PMID 23291299 · Kim et al., 2013 · Open in CIViC | civic |
| Sonidegib | MedulloblastomaCURATED_BROADER | Predictive | D | Supports Resistance | 3 | submitted | EID5325In a sonic hedgehog driven medulloblastoma patient derived xenograft harbouring a MYCN amplification, SMO inhibitor Sonidegib did not have an effect on cell proliferation. PMID 24651015 · Kool et al., 2014 · Open in CIViC | civic |
| NTRK3 EXPRESSION1 | ||||||||
| (prognostic) | MedulloblastomaCURATED_BROADER | Prognostic | B | Supports Positive | 3 | submitted | EID1968Patients with tumors expressing high levels of trkC mRNA had significantly longer intervals without disease progression than those with low levels (log-rank, P = 0.03) and a more favorable overall sur… (full text at CIViC) PMID 7809137 · Segal et al., 1994 · Open in CIViC | civic |
| NTRK3 Fusion1 | ||||||||
| Entrectinib | Desmoplastic/Nodular Medulloblastoma | Predictive | C | Does Not Support Sensitivity Response | 2 | submitted | EID12608In the STARTRK-NG Phase 1/2 trial of entrectinib in pediatric patients, with extracranial solid tumors or primary CNS tumors, aged <22 years with relapsed or refractory disease, tumors with fusions… (full text at CIViC) PMID 35395680 · Desai et al., 2022 · Open in CIViC | civic |
| PTCH1 Deletion1 | ||||||||
| Sonidegib | MedulloblastomaCURATED_BROADER | Predictive | D | Supports Sensitivity Response | 3 | submitted | EID5326In a sonic hedghehog driven medulloblastoma patient derived xenograft harbouring a PTCH1 deletion, SMO inhibition with Sonidegib showed inhibition of proliferation. PMID 24651015 · Kool et al., 2014 · Open in CIViC | civic |
| PTCH1 LOH1 | ||||||||
| Vismodegib | MedulloblastomaCURATED_BROADER | Predictive | B | Supports Sensitivity Response | 2 | accepted | EID749Loss-of-heterozygosity in SHH-driven medulloblastoma was associated with increased PFS under therapy with vismodegib (AKA HhAntag691, GDC0449, GDC-0449). 43 patients total were enrolled for this study… (full text at CIViC) PMID 26169613 · Robinson et al., 2015 · Open in CIViC | civic |
| PTCH1 Mutation1 | ||||||||
| Sonidegib | MedulloblastomaCURATED_BROADER | Predictive | B | Supports Sensitivity Response | 4 | accepted | EID748133 sonic-hedghog driven medulloblastomas were sequenced for alterations (WGS or WES). 60 cases exhibited PTCH1 mutations, most of which were likely loss-of-function (spread across the gene and of typ… (full text at CIViC) PMID 24651015 · Kool et al., 2014 · Open in CIViC | civic |
| SMO D473H3 | ||||||||
| Patidegib | MedulloblastomaCURATED_BROADER | Predictive | D | Supports Sensitivity Response | 3 | accepted | EID1099Saridegib treatment induced tumor reduction and significantly prolonged survival in a Shh-driven mouse medulloblastoma model, and was found to be active in cells with the D473H point mutation. PMID 22550175 · Lee et al., 2012 · Open in CIViC | civic |
| Vismodegib | MedulloblastomaCURATED_BROADER | Predictive | C | Supports Resistance | 3 | accepted | EID745In this case report, the D473H mutation was reported as an acquired mechanism of resistance to the hedgehog pathway inhibitor GDC-0449 (vismodegib). PMID 19726788 · Yauch et al., 2009 · Open in CIViC | civic |
| 〃 | MedulloblastomaCURATED_BROADER | Predictive | D | |||||
| 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 |
| SUFU Deletion1 | ||||||||
| Sonidegib | MedulloblastomaCURATED_BROADER | Predictive | D | Supports Resistance | 3 | submitted | EID5324In a sonic hedgehog driven medulloblastoma patient derived xenograft harbouring a SUFU deletion, SMO inhibition with LDE225 (Sonidegib) did not affect cell proliferation. PMID 24651015 · Kool et al., 2014 · Open in CIViC | civic |
| TP53 Mutation6 | ||||||||
| (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 |
| 〃 | MedulloblastomaCURATED_BROADER | Prognostic | ||||||
Data updated 12 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.
| 4 |
| submitted |
EID9013This retrospective study evaluated 72 pediatric medulloblastoma patients for CTNNB1 mutations (by direct sequencing), copy number alterations (by array-comparative genomic hybridization), and beta-cat… (full text at CIViC) PMID 19197950 · Fattet et al., 2009 · Open in CIViC |
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| (diagnostic) | Childhood Medulloblastoma | Diagnostic | B | Supports Positive | 3 | accepted | EID7965A series of 72 pediatric medulloblastomas were evaluated for CTNNB1 mutations (by direct sequencing), copy number alterations (by array-comparative genomic hybridization), and beta-catenin protein exp… (full text at CIViC) PMID 19197950 · Fattet et al., 2009 · Open in CIViC | civic |
| — |
| submitted |
EID4427In an in vitro study, a C3H10T1/2 cell line expressing SMO D473H mutation, demonstrated resistance to vismodegib treatment (IC50: 3,000,000 nmol/L vs. 20 nmol/L) compared to C3H10T1/2 cells expressing… (full text at CIViC) PMID 21123452 · Dijkgraaf et al., 2011 · Open in CIViC |
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| B |
| Supports Poor Outcome |
| 4 |
| submitted |
EID7963This study showed that patients with TP53 mutated medulloblastoma (8/49, 16%) exhibited worse prognosis compared to those with wildtype medulloblastoma (41/49, 84%). A 5-year overall survival of 0% wa… (full text at CIViC) PMID 20142599 · Tabori et al., 2010 · Open in CIViC |
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| 〃 | MedulloblastomaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 4 | submitted | EID7964This study examined the prognostic implication of TP53 mutation status in different molecular subgroups of medulloblastoma. A discovery cohort of 397 patients and a validation cohort of 156 cases were… (full text at CIViC) PMID 23835706 · Zhukova et al., 2013 · Open in CIViC | civic |
| (diagnostic) | Medulloblastoma, SHH-Activated, TP53-MutantALIAS | Diagnostic | 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 |