- NCIt
- C156462
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Variants & evidence
19 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 |
|---|---|---|---|---|---|---|---|---|
| CDKN2A Deletion + RELA FusionRELACDKN2A1 | ||||||||
| (prognostic) | Supratentorial Ependymoma ZFTA Fusion-Positive | Prognostic | B | Supports Poor Outcome | 3 | submitted | EID11446In a series of 54 supratentorial ependymomas with ZFTA::RELA fusions (termed fusions between C11orf95 and RELA at time of publication), homozygous deletion of CDKN2A was found in 9 cases and hemizygou… (full text at CIViC) PMID 32514758 · Jünger et al., 2020 · Open in CIViC | civic |
| H3C4 K28M1 | ||||||||
| (oncogenic) | Posterior Fossa Ependymoma, Group A (PFA)ALIAS | Oncogenic | C | Supports Oncogenicity | 2 | accepted | EID13074Mariet et al. identified a somatic H3C4 (HIST1H3D) p.Lys28Met (K27M) mutation in a posterior fossa group A ependymoma (EPN_PFA) from an 8-year-old male. The tumor showed H3 K27M immunoreactivity, loss… (full text at CIViC) PMID 36104744 · Mariet et al., 2022 · Open in CIViC | civic |
| ST-EPN-ZFTA2 | ||||||||
| (prognostic) | Supratentorial Ependymoma ZFTA Fusion-Positive | Prognostic | B | Supports Better Outcome | 3 | accepted | EID11445An international multi-institutional study identified108 patients with a methylation profile of supratentorial ependymoma, ZFTA fusion-positive, by whole genome DNA methylation profiling. The study fo… (full text at CIViC) PMID 37287693 · Ng et al., 2023 · Open in CIViC | civic |
| 〃 | Supratentorial Ependymoma ZFTA Fusion-Positive | Prognostic | B | Supports Better Outcome | 3 | accepted | EID11447In a series of 54 cases of ependymoma diagnosed in children </= 3 years, methylation profiling of all tumours was undertaken as part of a prospective clinical trial (SJYC07 - maximal safe surgical res… (full text at CIViC) PMID 30976811 · Upadhyaya et al., 2019 · Open in CIViC | civic |
| ZFTA Fusion1 | ||||||||
| (diagnostic) | Supratentorial Ependymoma ZFTA Fusion-Positive | Diagnostic | C | Supports Positive | 1 | accepted | EID11431In 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 |
| 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 8 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.
| 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 |
| civic |
| (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 |