Subtype
Childhood Intracranial Neoplasm
CI-CAN-00002262Explore in graph →
- NCIt
- C35876
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Subtype
CI-CAN-00002262Explore in graph →
Variants & evidence
11 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 |
|---|---|---|---|---|---|---|---|---|
| BRAF Kinase Domain Duplication1 | ||||||||
| (oncogenic) | Childhood Visual Pathway GliomaALIAS | Oncogenic | B | Supports Oncogenicity | 4 | submitted | EID12471Fluorescence in situ hybridization (FISH) studies were performed using home brew probes targeting 3′ BRAF, 5′ BRAF, and a commercial CEP7 probe on 59 patients with optic nerve glioma. Duplication of t… (full text at CIViC) PMID 22892521 · Rodriguez et al., 2012 · Open in CIViC | civic |
| 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 Exon 3 Mutation3 | ||||||||
| (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 Better Outcome | 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 | civic |
| (diagnostic) | Childhood Medulloblastoma | Diagnostic | B | Supports Positive | 3 | |||
| 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 |
| MAMLD1 Fusion1 | ||||||||
| (diagnostic) | Supratentorial Ependymoma YAP1 Fusion-Positive | Diagnostic | B | Supports Positive | 4 | accepted | EID11888A total of 15 pediatric patients with supratentorial ependymomas harboring YAP1::MAMLD1 fusions were reported. In all 15 cases, YAP1::MAMLD1 fusions were confirmed by RT-PCR and sequencing. In the ma… (full text at CIViC) PMID 30246434 · Andreiuolo et al., 2019 · Open in CIViC | civic |
| SIRAL1 Fusion1 | ||||||||
| (diagnostic) | Supratentorial Ependymoma YAP1 Fusion-Positive | Diagnostic | C | Supports Positive | 1 | accepted | EID11889This is a case report of a 26-year-old male patient who sufferred 3 grand mal seizures and was found to have a left frontal lobe ependymoma with a YAP1::FAM118B fusion. No other genetic alterations we… (full text at CIViC) PMID 33480048 · Wang et al., 2021 · Open in CIViC | civic |
| YAP1 Fusion1 | ||||||||
| (diagnostic) | Supratentorial Ependymoma YAP1 Fusion-Positive | Diagnostic | B | Supports Positive | 4 | accepted | EID11890DNA methylation profiling of 500 ependymal tumors identified 9 molecular profiles with 3 occurring in the supratentorial compartment (designated ST EPN). RNA sequencing performed in 7 of the 13 cases… (full text at CIViC) PMID 25965575 · Pajtler et al., 2015 · Open in CIViC | civic |
Data updated 15 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.
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 |
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