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Variants & evidence
115 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 |
|---|---|---|---|---|---|---|---|---|
| IDH2 R172G + IDH2 R172K + IDH2 R172W1 | ||||||||
| Vorasidenib | Low Grade Glioma | Predictive | A | Supports Sensitivity Response | 5 | accepted | EID11509This phase 3 clinical trial was conducted to assess the progression-free survival in patients with IDH-mutant gliomas treated with Vorasidenib, an oral brain-penetrant inhibitor, which showed prelimin… (full text at CIViC) PMID 37272516 · Mellinghoff et al., 2023 · Open in CIViC | civic |
| IDH2 R172M + IDH2 R172S1 | ||||||||
| Vorasidenib | Low Grade Glioma | Predictive | A | Supports Sensitivity Response | 2 | submitted | EID12235This phase 3 clinical trial was conducted to assess the progression-free survival in patients with IDH-mutant gliomas treated with Vorasidenib, an oral brain-penetrant inhibitor, which showed prelimin… (full text at CIViC) PMID 37272516 · Mellinghoff et al., 2023 · Open in CIViC | civic |
| NTRK2 Fusion1 | ||||||||
| (diagnostic) | Pilocytic Astrocytoma | Diagnostic | C | Supports Positive | 2 | accepted | EID8653A case report showing a two-year-old girl with an unusual pilocytic astrocytoma (PA) with both classic- and anaplastic- appearing tumors. A custom NGS panel identified a novel KANK1-NTRK2 fusion in bo… (full text at CIViC) PMID 29804288 · López et al., 2019 · Open in CIViC | civic |
| BRAF Fusion12 | ||||||||
| (diagnostic) | Pilocytic Astrocytoma | Diagnostic | B | Supports Positive | 5 | accepted | EID7148Genetic alterations in pilocytic astrocytoma (PA) were evaluated. Whole-genome sequencing of normal (blood) and tumor samples (n=96) was performed along with corresponding RNA-Seq (n=73) and mate-pair… (full text at CIViC) PMID 23817572 · Jones et al., 2013 · Open in CIViC | civic |
| (prognostic) | Childhood Low Grade Glioma | Prognostic | B | Supports Better Outcome | 4 | accepted | EID7193KIAA1549-BRAF fusion was identified in 87 of 272 patients with PLGGs using Fluorescence In situ hybridization (FISH) analysis. This mutation was strongly associated with a greater progression-free sur… (full text at CIViC) PMID 29948154 · Yang et al., 2018 · Open in CIViC | civic |
| 〃 | Childhood Low Grade Glioma | Prognostic | B | Supports Better Outcome | 4 | |||
| KRAS Mutation1 | ||||||||
| (diagnostic) | Pilocytic Astrocytoma | Diagnostic | C | Supports Positive | 3 | submitted | EID7150Genetic alterations in 96 patients with pilocytic astrocytoma (PA) were evaluated. Two new alterations with double KRAS mutations (p.[Glu63Lys]+[Arg73Met] and p.[Leu19Phe]+[Gln22Lys] ) were observed. PMID 23817572 · Jones et al., 2013 · 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 |
| MGMT Promoter Methylation1 | ||||||||
| (prognostic) | OligodendrogliomaCURATED_BROADER | Prognostic | B | Supports Better Outcome | 4 | accepted | EID490In a study of 152 anaplastic oligodendroglial tumors, 121 samples had MGMT promoter methylation. Those with promoter methylation had better progression-free and overall survival. PMID 19901104 · van den Bent et al., 2009 · Open in CIViC | civic |
| MGMT Underexpression1 | ||||||||
| Temozolomide | OligodendrogliomaCURATED_BROADER | Predictive | B | Supports Sensitivity Response | 2 | accepted | EID2902In this study, loss of chromosome 1p and low MGMT protein expression were associated with objective response (P < .003 and P < .04, respectively). However, only 54% of the study group had evaluation o… (full text at CIViC) PMID 16541434 · Levin et al., 2006 · 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 |
| MYB AMPLIFICATION1 | ||||||||
| (prognostic) | Childhood Low Grade Glioma | Prognostic | B | Supports Better Outcome | 4 | accepted | EID7194MYB amplification was detected in 28 of 263 patients with PLGGs using Fluorescence In situ hybridization (FISH) analysis. The amplification of MYB was strongly associated with greater progression-free… (full text at CIViC) PMID 29948154 · Yang et al., 2018 · Open in CIViC | civic |
| MYBL1 Rearrangement3 | ||||||||
| (diagnostic) | Diffuse AstrocytomaALIAS | Diagnostic | B | Supports Positive | 4 | accepted | EID11780Histological, molecular, and clinical analysis of 26 histologically prototypical isomorphic diffuse gliomas with a specific DNA methylation profile distinct from other glial/glio-neuronal brain tumors… (full text at CIViC) PMID 31563982 · Wefers et al., 2020 · Open in CIViC | civic |
| 〃 | Diffuse AstrocytomaALIAS | Diagnostic | B | Supports Positive | 4 | accepted | EID11781Copy-number analysis was performed on 44 diffuse pediatric low-grade gliomas (PLGGs) to identify recurrent alterations. The most significant event, focal 8q13.1 gain, was observed in 28% (5/18) of dif… (full text at CIViC) PMID 23633565 · Ramkissoon et al., 2013 · Open in CIViC | civic |
| 〃 | Diffuse AstrocytomaALIAS | |||||||
| QKI Fusion3 | ||||||||
| (diagnostic) | Angiocentric Glioma | Diagnostic | B | Supports Positive | 4 | accepted | EID11065A comprehensive genomic analysis was conducted on 172 cases of pediatric low-grade gliomas (PLGGs) across various histologic subtypes, utilizing whole-genome sequencing (WGS) and/or RNA sequencing. Th… (full text at CIViC) PMID 26829751 · Bandopadhayay et al., 2016 · Open in CIViC | civic |
| 〃 | Angiocentric Glioma | Diagnostic | B | Supports Positive | 4 | accepted | EID11773The study compiled clinicopathologic and molecular features of 46 gliomas with a MYB or MYBL1 alteration diagnosed at a single center. The tumors showed low-grade histopathologic features and were bro… (full text at CIViC) PMID 31595312 · Chiang et al., 2019 · Open in CIViC | civic |
| 〃 | Angiocentric Glioma | Diagnostic | B | Supports Positive | 3 | accepted | ||
| MYB Rearrangement4 | ||||||||
| (diagnostic) | Diffuse AstrocytomaALIAS | Diagnostic | B | Supports Positive | 3 | accepted | EID11777Comprehensive molecular studies (through whole genome, whole exome, transcriptome sequencing, genome-wide copy number analysis, clustering analysis by DNA methylation profiling, mutation hotspot analy… (full text at CIViC) PMID 26810070 · Qaddoumi et al., 2016 · Open in CIViC | civic |
| 〃 | Diffuse AstrocytomaALIAS | Diagnostic | B | Supports Positive | 3 | accepted | EID11778The study compiled the clinicopathologic and molecular features of 46 gliomas with a MYB or MYBL1 alteration diagnosed at a single center. The tumors showed low-grade histopathologic features and were… (full text at CIViC) PMID 31595312 · Chiang et al., 2019 · Open in CIViC | civic |
| 〃 | Angiocentric Glioma | Diagnostic | ||||||
| MYB Truncation1 | ||||||||
| (diagnostic) | Angiocentric Glioma | Diagnostic | C | Supports Positive | 2 | accepted | EID11775A research study performed in 2010 involved 57 pediatric low-grade gliomas (LGGs) and a comparison group of 59 pediatric high-grade gliomas (HGGs). Among the LGG group, there were 34 cases of pilocyti… (full text at CIViC) PMID 21046410 · Tatevossian et al., 2010 · Open in CIViC | civic |
| NF1 D1644H + NF1 Q1189*1 | ||||||||
| Selumetinib | Diffuse AstrocytomaCURATED_BROADER | Predictive | C | Supports Sensitivity Response | 1 | submitted | EID12342A 14.6-year-old male [ID: 6] with a family history of neurofibromatosis type 1 (NF1) affecting both parents and a sibling. The patient was asymptomatic at diagnosis, and a biopsy of the left frontal g… (full text at CIViC) PMID 35945463 · Lucas et al., 2022 · Open in CIViC | civic |
| NF1 Mutation2 | ||||||||
| (predisposing) | Pilocytic Astrocytoma | Predisposing | C | Supports Predisposition | 2 | rejected | EID12272This study reported 47 neurofibromatosis type 1 (NF1) patients with biallelic inactivation of NF1 genes were detected in all glial tumors. Targeted capture-based next-generation sequencing (479 cancer… (full text at CIViC) PMID 35945463 · Lucas et al., 2022 · Open in CIViC | civic |
| Selumetinib | Childhood Low Grade Glioma | Predictive | B | Supports Sensitivity Response | 3 | accepted | EID7487In a phase 2 trial, patients with pediatric low-grade glioma after at least one standard therapy were treated with MEK1/2 inhibitor selumetinib. In stratum 1, nine patients with WHO grade I pilocytic … (full text at CIViC) PMID 31151904 · Fangusaro et al., 2019 · Open in CIViC | civic |
| PA-NF1 + NF1 Mutation2 | ||||||||
| (diagnostic) | Pilocytic Astrocytoma | Diagnostic | B | Supports Positive | 4 | rejected | EID12267This study reported 47 neurofibromatosis type 1 (NF1) patients with biallelic inactivation of NF1 genes were detected in all glial tumors. Targeted capture-based next-generation sequencing (479 cancer… (full text at CIViC) PMID 35945463 · Lucas et al., 2022 · Open in CIViC | civic |
| Trametinib | Pilocytic Astrocytoma | Predictive | C | Supports Sensitivity Response | 3 | submitted | EID12269This study reported 47 neurofibromatosis type 1 (NF1) patients with biallelic inactivation of NF1 genes were detected in all glial tumors. Targeted capture-based next-generation sequencing (479 cancer… (full text at CIViC) PMID 35945463 · Lucas et al., 2022 · Open in CIViC | civic |
| NF1 p.R1276*1 | ||||||||
| (predisposing) | Pilocytic Astrocytoma | Predisposing | C | Supports Predisposition | 3 | rejected | EID12286This study reported 47 neurofibromatosis type 1 (NF1) patients with biallelic inactivation of NF1 genes were detected in all glial tumors. Targeted capture-based next-generation sequencing (479 cancer… (full text at CIViC) PMID 35945463 · Lucas et al., 2022 · Open in CIViC | civic |
| NF1 G629R + NF1 Splice Site (c.205-1G>C)2 | ||||||||
| Carboplatin + Selumetinib + Trametinib + VincristineSubstitutes | Pilocytic Astrocytoma | Predictive | C | Supports Sensitivity Response | 2 | submitted | EID12271This study reported 47 neurofibromatosis type 1 (NF1) patients with biallelic inactivation of NF1 genes were detected in all glial tumors. Targeted capture-based next-generation sequencing (479 cancer… (full text at CIViC) PMID 35945463 · Lucas et al., 2022 · Open in CIViC | civic |
| 〃 | Pilocytic Astrocytoma | Predictive | C | Supports Sensitivity Response | 2 | rejected | EID12359This study reported 47 neurofibromatosis type 1 (NF1) patients with biallelic inactivation of NF1 genes were detected in all glial tumors. Targeted capture-based next-generation sequencing (479 cancer… (full text at CIViC) PMID 35945463 · Lucas et al., 2022 · Open in CIViC | civic |
| NF2 c.1396C>T2 | ||||||||
| (diagnostic) | Adult Spinal Cord Ependymoma | Diagnostic | B | Supports Positive | 3 | submitted | EID8066Single strand conformation polymorphism and sequencing was used on human tumors to determine tumor NF2 genotype. This is a nonsense mutation. PMID 10433955 · Ebert et al., 1999 · Open in CIViC | civic |
| (predisposing) | Adult Spinal Cord Ependymoma | Predisposing | C | Supports Predisposition | 2 | accepted | EID8067Blood or tumor specimens of 37 unrelated adult patients with ependymomas related to neurofibromatosis Type 2 (NF2) underwent sequencing of the NF2 gene to reveal germline variants. Overall, 64% were f… (full text at CIViC) PMID 21294614 · Plotkin et al., 2011 · Open in CIViC | civic |
| PTPN11 Mutation1 | ||||||||
| (diagnostic) | Pilocytic Astrocytoma | Diagnostic | C | Supports Positive | 3 | submitted | EID7153Genetic alterations in pilocytic astrocytoma (PA) were evaluated. Two alterations were found in the PTPN11 (aka SHP-2) gene, encoding a RAS-MAPK-related adaptor protein and phosphatase. Both alteratio… (full text at CIViC) PMID 23817572 · Jones et al., 2013 · Open in CIViC | civic |
| NTRK2 Fusion2 | ||||||||
| (oncogenic) | Low Grade Glioma | Oncogenic | C | Supports Oncogenicity | 1 | accepted | EID11437From a retrospective review of 38,095 tumor samples from 33,997 patients that underwent fusion screening at Memorial Sloan Kettering Cancer Center, 87 tumors were found to be positive for an NTRK1, NT… (full text at CIViC) PMID 31375766 · Solomon et al., 2020 · Open in CIViC | civic |
| 〃 | Pilocytic Astrocytoma | Oncogenic | C | Supports Oncogenicity | 1 | accepted | EID11449Whole genome sequencing of 96 pilocytic astrocytomas by the International Cancer Genome Consortium (ICGC) PedBrain Tumor Project identified QKI::NTRK2 (e6::e16) fusions in 2 cases (5 yo & 12 yo males)… (full text at CIViC) PMID 23817572 · Jones et al., 2013 · Open in CIViC | civic |
| EGFR Fusion1 | ||||||||
| Gefitinib | Childhood Ependymoma | Predictive | A | Supports Sensitivity Response | 1 | submitted | EID10933SEC61G::EGFR (5'UTR::e14) (5'-UTR of SEC61G and 3'-UTR of EGFR) was detected in ependymoma as a change sensitive to gefitinib (also confirmed by mice xenografts model). Screening of 16 ependymoma pati… (full text at CIViC) PMID 29092923 · Servidei et al., 2017 · Open in CIViC | civic |
| TERT Promoter Mutation1 | ||||||||
| (prognostic) | Childhood Low Grade Glioma | Prognostic | C | Supports Poor Outcome | 4 | accepted | EID7188The aim of this Chinese study was to identify prognostic biomarkers for pediatric low-grade gliomas (PLGG). Approximately 300 patients were included. Using Sanger sequencing, mutations at TERT promote… (full text at CIViC) PMID 29948154 · Yang et al., 2018 · Open in CIViC | civic |
| 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 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 |
Data updated 23 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.
EID7200Hawkins et al. (2011) retrospectively studied 70 consecutive patient with incompletely resected pediatric low-grade astrocytomas (PLGA). KIAA1549-BRAF fusion was identified in 60% of cases in this coh… (full text at CIViC) PMID 21610142 · Hawkins et al., 2011 · Open in CIViC |
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| (diagnostic) | Pilocytic Astrocytoma | Diagnostic | B | Supports Positive | 4 | accepted | EID7319This study identified a novel rearrangement event between the uncharacterized gene KIAA-1549 and BRAF in 66% (29 of 44) of pilocytic astrocytoma but not in 244 higher-grade astrocytomas that were eval… (full text at CIViC) PMID 18974108 · Jones et al., 2008 · Open in CIViC | civic |
| (oncogenic) | Pilocytic Astrocytoma | Oncogenic | D | Supports Oncogenicity | 3 | accepted | EID7337This study identified a novel rearrangement event between the uncharacterized gene KIAA-1549 and BRAF in 66% (29 of 44) of pilocytic astrocytomas. The fusion gene was shown to delete the N-terminal BR… (full text at CIViC) PMID 18974108 · Jones et al., 2008 · Open in CIViC | civic |
| PLX4720 + VemurafenibSubstitutes | Childhood Low Grade Glioma | Predictive | D | Supports Adverse Response | 4 | submitted | EID7204Activated BRAF protein kinase mutations are characteristic of pediatric astrocytomas with KIAA1549-BRAF fusion commonly observed in low-grade astrocytomas. Sievert et al. (2013) generated BRAF fusion … (full text at CIViC) PMID 23533272 · Sievert et al., 2013 · Open in CIViC | civic |
| Selumetinib | Childhood Pilocytic Astrocytoma | Predictive | B | Supports Sensitivity Response | 3 | submitted | EID7486In a phase 2 trial, patients with pediatric low-grade glioma after at least one standard therapy were treated with MEK1/2 inhibitor selumetinib. In stratum 1, nine patients with WHO grade I pilocytic… (full text at CIViC) PMID 31151904 · Fangusaro et al., 2019 · Open in CIViC | civic |
| 〃 | Childhood Pilocytic Astrocytoma | Predictive | D | Supports Sensitivity Response | 2 | accepted | EID8943In this preclinical experiment, a pediatric pilocytic astrocytoma cell line (DKFZ-BT66) harboring KIAA1549:BRAF fusion was generated from a two year old patient. Treatment with selumetinib resulted in… (full text at CIViC) PMID 28002790 · Selt et al., 2017 · Open in CIViC | civic |
| Sorafenib + VemurafenibSubstitutes | Childhood Pilocytic Astrocytoma | Predictive | D | Supports Resistance | 2 | accepted | EID7402A pilocytic astrocytoma (PA) cell line named DKFZ-BT66 was generated from a 2-year old patient with the disease. Expression of KIAA1549-BRAF fusion in this cell line was identified. Treatment with sor… (full text at CIViC) PMID 28002790 · Selt et al., 2017 · Open in CIViC | civic |
| Trametinib | Childhood Pilocytic Astrocytoma | Predictive | D | Supports Sensitivity Response | 3 | accepted | EID8944In this preclinical experiment, a pediatric pilocytic astrocytoma cell line (DKFZ-BT66) harboring KIAA1549:BRAF fusion was generated from a two year old patient. Treatment with trametinib resulted in … (full text at CIViC) PMID 28002790 · Selt et al., 2017 · Open in CIViC | civic |
| Everolimus + TrametinibCombination | Childhood Low Grade Glioma | Predictive | D | Supports Sensitivity Response | 3 | rejected | EID7197This preclinical study proposed to use a combination therapy of an MEK inhibitor (e.g. trametinib) and an mTOR inhibitor (e.g. everolimus) for the treatment of pediatric low-grade gliomas (PLGGs) with… (full text at CIViC) PMID 29156677 · Jain et al., 2017 · Open in CIViC | civic |
| 〃 | Childhood Low Grade Glioma | Predictive | D | Supports Sensitivity Response | 2 | accepted | EID7199This preclinical study proposed to use a combination therapy of an MEK inhibitor (e.g. trametinib) and an mTOR inhibitor (e.g. everolimus) for the treatment of pediatric low-grade gliomas (PLGGs) with… (full text at CIViC) PMID 29156677 · Jain et al., 2017 · Open in CIViC | civic |
| Diagnostic |
| C |
| Supports Positive |
| 2 |
| accepted |
EID11779Comprehensive molecular studies (through whole genome, whole exome, transcriptome sequencing, genome-wide copy number analysis, clustering analysis by DNA methylation profiling, mutation hotspot analy… (full text at CIViC) PMID 26810070 · Qaddoumi et al., 2016 · Open in CIViC |
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EID11769Comprehensive molecular studies through whole genome, whole exome, transcriptome sequencing, genome-wide copy number analysis, clustering analysis by DNA methylation profiling, as well as mutation hot… (full text at CIViC) PMID 26810070 · Qaddoumi et al., 2016 · Open in CIViC |
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| C |
| Supports Positive |
| 2 |
| accepted |
EID11774Copy-number analysis was performed on 44 diffuse pediatric low-grade gliomas (PLGGs) to identify recurrent alterations. The most significant event, focal 8q13.1 gain, was observed in 28% (5/18) of dif… (full text at CIViC) PMID 23633565 · Ramkissoon et al., 2013 · Open in CIViC |
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| 〃 | Diffuse AstrocytomaALIAS | Diagnostic | C | Supports Positive | 2 | accepted | EID11790A research study performed in 2010 involved 57 pediatric low-grade gliomas (LGGs) and a comparison group of 59 pediatric high-grade gliomas (HGGs). Among the LGG group, there were 34 cases of pilocyti… (full text at CIViC) PMID 21046410 · Tatevossian et al., 2010 · Open in CIViC | civic |