Subtype
Primary Brain Neoplasm
CI-CAN-00003725Explore in graph →
Non-malignant157 active trials34 evidence items
- NCIt
- C170814
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Subtype
CI-CAN-00003725Explore in graph →
Variants & evidence
71 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 |
|---|---|---|---|---|---|---|---|---|
| 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 | ||||||
| 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 |
| MAML2 Fusion1 | ||||||||
| (diagnostic) | Supratentorial Ependymoma ZFTA Fusion-Positive | Diagnostic | C | Supports Positive | 2 | accepted | EID11430In an analysis of 13 cases of supratentorial tumors with ZFTA rearrangements without RELA involvement, all were found to have DNA methylation profiles similar to ZFTA::RELA supratentorial ependymoma. … (full text at CIViC) PMID 34389065 · Tauziède-Espariat et al., 2021 · Open in CIViC | civic |
| NCOA1 Fusion1 | ||||||||
| (diagnostic) | Supratentorial Ependymoma ZFTA Fusion-Positive | Diagnostic | C | Supports Positive | 2 | accepted | EID11428In an analysis of 13 cases of supratentorial glial tumors with ZFTA rearrangements without RELA involvement, all were found to have DNA methylation profiles similar to ZFTA::RELA supratentorial ependy… (full text at CIViC) PMID 34389065 · Tauziède-Espariat et al., 2021 · Open in CIViC | civic |
| NCOA2 Fusion1 | ||||||||
| (diagnostic) | Supratentorial Ependymoma ZFTA Fusion-Positive | Diagnostic | C | Supports Positive | 2 | accepted | EID11429In an analysis of 13 cases of supratentorial glial tumors with ZFTA rearrangements without RELA involvement, all were found to have DNA methylation profiles similar to ZFTA::RELA supratentorial ependy… (full text at CIViC) PMID 34389065 · Tauziède-Espariat et al., 2021 · Open in CIViC | civic |
| RELA Fusion8 | ||||||||
| (diagnostic) | Supratentorial Ependymoma ZFTA Fusion-Positive | Diagnostic | A | Supports Positive | 3 | accepted | EID8627Ependymoma RELA fusion-positive is a genetically defined ependymoma subtype accepted as a distinct entity in the 2016 WHO classification of CNS tumors. This variant accounts for the majority of suprat… (full text at CIViC) PMID 27157931 · Louis et al., 2016 · Open in CIViC | civic |
| (prognostic) | Supratentorial Ependymoma ZFTA Fusion-Positive | Prognostic | B | Supports Poor Outcome | 4 | accepted | EID8628Pajtler et al. generated genome-wide DNA methylation profiles for 500 ependymal tumors using the Illumina 450k methylation array. Tumors were classified into nine molecular subgroups of which 88 supra… (full text at CIViC) PMID 25965575 · Pajtler et al., 2015 · Open in CIViC | civic |
| (diagnostic) | Supratentorial Ependymoma ZFTA Fusion-Positive | Diagnostic | B | Supports | ||||
Data updated 10 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 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 |
| civic |
| 〃 | 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 |
| 3 |
| accepted |
EID11432In 16 of 21 supratentorial ependymomas, oncogenic fusions between ZFTA (C11orf95) and RELA were identified by a variety of methods including WGS, RT-PCR, FISH, and RNAseq. ZFTA::RELA fusions were a… (full text at CIViC) PMID 24553141 · Parker et al., 2014 · Open in CIViC |
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| (prognostic) | Supratentorial Ependymoma ZFTA Fusion-Positive | Prognostic | B | Supports Poor Outcome | 3 | rejected | EID11439Pajtler et al. generated genome-wide DNA methylation profiles for 500 ependymal tumors using the Illumina 450k methylation array. Tumors were classified into nine molecular subgroups of which 88 supra… (full text at CIViC) PMID 25965575 · Pajtler et al., 2015 · Open in CIViC | civic |
| (diagnostic) | Supratentorial Ependymoma ZFTA Fusion-Positive | Diagnostic | B | Supports Positive | 3 | accepted | EID11440Pajtler et al. generated genome-wide DNA methylation profiles for 500 ependymal tumors using the Illumina 450k methylation array. Tumors were classified into nine molecular subgroups of which 88 supra… (full text at CIViC) PMID 25965575 · Pajtler et al., 2015 · Open in CIViC | civic |
| 〃 | Supratentorial Ependymoma ZFTA Fusion-Positive | Diagnostic | B | Supports Positive | 3 | accepted | EID11448Paired-end RNA sequencing identified a fusion between C11orf95 (now known as ZFTA) and RELA in 14 of 19 supratentorial ependymomas. This fusion was not detectable in a series of other CNS tumors incl… (full text at CIViC) PMID 24562983 · Pietsch et al., 2014 · Open in CIViC | civic |
| (oncogenic) | Supratentorial Ependymoma ZFTA Fusion-Positive | Oncogenic | D | Supports Oncogenicity | 4 | accepted | EID11441Fusions between ZFTA (C11orf95) and RELA are identified in 70% of supratentorial ependymomas. RELA is the principal effector of NF-KB signaling. The introduction of the fusion into neural stem cell… (full text at CIViC) PMID 24553141 · Parker et al., 2014 · Open in CIViC | civic |
| 〃 | Supratentorial Ependymoma ZFTA Fusion-Positive | Oncogenic | D | Supports Oncogenicity | 4 | accepted | EID11442Viral introduction of the ZFTA::RELA fusion into periventricular neural stem cells in mice was shown to induce tumors that recapitulate human supratentorial ependymoma. Introduction of wild type ZFT… (full text at CIViC) PMID 29949764 · Ozawa et al., 2018 · Open in CIViC | civic |