Cancer Family
Neuroepithelial, Perineurial, and Schwann Cell Neoplasm
CI-CAN-00000039Explore in graph →
- NCIt
- C35562
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Cancer Family
CI-CAN-00000039Explore in graph →
Variants & evidence
380 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 |
|---|---|---|---|---|---|---|---|---|
| High1 | ||||||||
| (prognostic) | Low Grade Glioma | Prognostic | B | Supports Poor Outcome | 4 | submitted | EID13062In patients with initially low-grade IDH-mutant gliomas previously treated with temozolomide, a high tumor mutational burden (TMB-high)/temozolomide-associated hypermutator phenotype was associated wi… (full text at CIViC) PMID 33823014 · Yu et al., 2021 · Open in CIViC | civic |
| TP53 M237I2 | ||||||||
| Unspecified therapy | GlioblastomaCURATED_BROADER | Predictive | C | Supports N/A | 5 | submitted | EID8064mutants in diverse tumor types activate different p53 target genes, but some may give rise to the same GoF phenotype. 12,13 For example, M237I, in glioblastoma, and R282W, in lung cancer, trigger chem… (full text at CIViC) PMID 29260852 · Silva et al., 2018 · Open in CIViC | civic |
| Temozolomide | GlioblastomaCURATED_BROADER | Predictive | D | Supports Resistance | 3 | submitted | EID7979The glioblastoma T98G cell line possesses a TP53 M237I variant. This cell line initially exhibited resistance to temozolomide treatment, but a five-fold increase in chemosensitivity (IC50 112.15 ug/ml… (full text at CIViC) PMID 24248532 · Wang et al., 2014 · Open in CIViC | civic |
| TP53 Mutation2 | ||||||||
| (prognostic) | GlioblastomaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 3 | submitted | EID7976In a trial of 68 glioblastoma patients treated with either temozolomide or semustine, 24 patients were found to have TP53 mutations at codons 175, 248, or 273. Patients with TP53 mutation were found t… (full text at CIViC) PMID 24248532 · Wang et al., 2014 · Open in CIViC | civic |
| Temozolomide | GlioblastomaCURATED_BROADER | Predictive | B | Supports Resistance | 3 | submitted | EID7978In a trial of 68 glioblastoma patients treated with either temozolomide or semustine, 24 patients were found to have TP53 mutations at codons 175, 248, or 273. Kaplan-Meier analysis of the 35 patients… (full text at CIViC) PMID 24248532 · Wang et al., 2014 · Open in CIViC | civic |
| TP53 P72R1 | ||||||||
| (prognostic) | OligodendrogliomaCURATED_BROADER | Prognostic | B | Does Not Support Poor Outcome | 2 | submitted | EID6932In the evaluation of 275 oligodendroglial tumors, the specific genotype at amino acid 72 of TP53 (Arg/Arg, Arg/Pro, or Pro/Pro) was not associated grade of malignancy (low- vs. high-grade, P = 0.650) … (full text at CIViC) PMID 17854663 · Idbaih et al., 2007 · Open in CIViC | civic |
| TP53 R273H1 | ||||||||
| Temozolomide | GlioblastomaCURATED_BROADER | Predictive | D | Supports Resistance | 3 | submitted | EID7980The glioblastoma U138 cell line possesses a TP53 R273H variant. This cell line initially exhibited resistance to temozolomide treatment, but a four-fold increase in chemosensitivity (IC50 127.79 ug/ml… (full text at CIViC) PMID 24248532 · Wang et al., 2014 · Open in CIViC | civic |
| NTRK1 Fusion2 | ||||||||
| Entrectinib | High-Grade Glioma, NOS | Predictive | C | Supports Sensitivity Response | 3 | accepted | EID11851In a phase 1/2 trial of entrectinib in pediatric patients, tumors with fusions in NTRK, ROS1, or ALK had an overall response (ORR) of 57.7% (95% CI; 36.9-76.7). This included one patient (4 yo) with … (full text at CIViC) PMID 35395680 · Desai et al., 2022 · Open in CIViC | civic |
| Larotrectinib | Gliosarcoma | Predictive | C | Supports Sensitivity Response | 4 | accepted | EID11746A 9-month-old boy with no family history of cancer presented with increased head circumference, and MRI demonstrated a solid lesion in the left frontal lobe. A subtotal surgical resection was performe… (full text at CIViC) PMID 35034013 · Mançano et al., 2022 · Open in CIViC | civic |
| TYK2 Pro1104Ala1 | ||||||||
| (oncogenic) | Malignant Peripheral Nerve Sheath Tumor | Oncogenic | B | Supports Oncogenicity | 2 | submitted | EID9218TYK2 protein overexpression was observed in 60% of MPNST cases using an independently generated tissue microarray, regardless of NF1 status. A total of 3 women and 4 men with NF1-MPNST were studied (m… (full text at CIViC) PMID 27875628 · Hirbe et al., 2017 · Open in CIViC | civic |
| VEGFA Overexpression1 | ||||||||
| Bevacizumab | GlioblastomaCURATED_BROADER | Predictive | B | Supports Sensitivity Response | 3 | submitted | EID7013We found that high VEGF expression (mean positive area > 5,000 pixels/×400 field) was associated with increased likelihood of achieving radiographic response (P = .024; Table 2). PMID 18182667 · Sathornsumetee et al., 2008 · Open in CIViC | civic |
| VEGFA Overexpression of VEGF1211 | ||||||||
| Bevacizumab | GlioblastomaCURATED_BROADER | Predictive | B | Supports Resistance | 4 | submitted | EID9490In a clinical study including 12 patients already treated with bevacizumab, high levels of plasma VEGF-121 decrease the OS and the PFS (p = 0.0246 and p = 0.0295) compared to low level of expression. PMID 29747600 · Martini et al., 2018 · Open in CIViC | civic |
| NTRK2 Fusion1 | ||||||||
| (diagnostic) | Pilocytic Astrocytoma | Diagnostic | C | Supports Positive | 3 | submitted | EID7151Genetic alterations in pilocytic astrocytoma (PA) were evaluated. Two new NTRK2 fusion events were identified in this study. These two NTRK2 fusion events, namely QKI-NTRK2 (2 of 96 samples) and NACC2… (full text at CIViC) PMID 23817572 · Jones et al., 2013 · Open in CIViC | civic |
| WDR12 OVEREXPRESSION1 | ||||||||
| (prognostic) | GlioblastomaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 4 | submitted | EID8004Expression of WDR12 was found to be significantly higher in tumour than normal tissue from TCGA LGG and GBM datasets. Kaplan-Meier analysis showed high WDR12 expression to be significantly associated … (full text at CIViC) PMID 32180229 · Li et al., 2020 · Open in CIViC | civic |
| WEE1 Overexpression2 | ||||||||
| Adavosertib | Diffuse Midline Glioma, H3 K27-Altered | Predictive | D | Supports Sensitivity Response | 4 | submitted | EID7242Significant WEE1 protein overexpression was detected by IHC in VUMC-DIPG-1 tissue isolated from a patient's frontal lobe. Significant WEE1 protein levels were also found in E98-FM glioma cells. An i… (full text at CIViC) PMID 23270927 · Caretti et al., 2013 · Open in CIViC | civic |
| 〃 | Diffuse Midline Glioma, H3 K27-Altered | Predictive | D | Supports Sensitivity Response | 3 | submitted | EID7243Two mouse xenograft models were used: one of tumor cells from a genetically engineered mouse with a BRAF V600E mutation, and the other using a patient's DIPG cells (SF8628). SF8628 was found to have … (full text at CIViC) PMID 24305702 · Mueller et al., 2014 · 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 17 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 |
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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 |