Cancer Family
Neuroepithelial Neoplasm
CI-CAN-00000287Explore in graph →
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Cancer Family
CI-CAN-00000287Explore in graph →
Variants & evidence
363 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 |
|---|---|---|---|---|---|---|---|---|
| IDH1 R1327 | ||||||||
| (prognostic) | GlioblastomaCURATED_BROADER | Prognostic | B | Supports Better Outcome | 3 | accepted | EID349In patients with glioblastoma, those harboring IDH1 R132 mutation has higher overall survival compared to those who do not have IDH1 mutation. PMID 20127344 · Bleeker et al., 2010 · Open in CIViC | civic |
| 〃 | Glioma | Prognostic | B | Supports Better Outcome | 3 | submitted | EID4031In a clinical study of 63 recurrent glioma patients, patients harboring IDH1 codon 132 mutation were associated with improved overall survival from initial diagnosis (56.5 vs. 21.3 months; P=0.001), a… (full text at CIViC) PMID 22199315 · Lv et al., 2011 · Open in CIViC | civic |
| Bevacizumab | High-Grade Glioma, NOS | Predictive | B | Supports Sensitivity Response | 2 | submitted | EID2330In a clinical study of 63 recurrent glioma patients, patients treated with bevacizumab monotherapy (n=11) and harboring IDH1 codon 132 mutation were associated with improved progression free survival … (full text at CIViC) PMID 22199315 · Lv et al., 2011 · Open in CIViC | civic |
| Bevacizumab + SunitinibSubstitutes | High-Grade Glioma, NOS | Predictive | B | Supports Sensitivity Response | 2 | accepted | EID2020In a clinical study of 63 recurrent glioma patients, the combined cohort of patients treated with either bevacizumab or sunitinib showed that those harboring IDH1 codon 132 mutation were associated wi… (full text at CIViC) PMID 22199315 · Lv et al., 2011 · Open in CIViC | civic |
| Cetuximab | GlioblastomaCURATED_BROADER | Predictive | B | Supports Sensitivity Response | 3 | submitted | EID4032In a clinical study of 63 recurrent glioma patients, de novo glioblastoma patients treated with cetuximab monotherapy (n=27) and harboring IDH1 codon 132 mutation were associated with improved overal… (full text at CIViC) PMID 22199315 · Lv et al., 2011 · Open in CIViC | civic |
| 〃 | GlioblastomaCURATED_BROADER | Predictive | B | Supports Sensitivity Response | — | submitted | EID3718In a clinical study of 63 recurrent glioma patients, de novo glioblastoma patients treated with cetuximab monotherapy (n=27) and harboring IDH1 codon 132 mutation were associated with improved overal… (full text at CIViC) PMID 22199315 · Lv et al., 2011 · Open in CIViC | civic |
| Safusidenib | Glioma | Predictive | B | Supports Sensitivity Response | 3 | submitted | EID7448In a phase1 study, patients with Glioma harboring IDH1-R132X mutation were treated with selective IDH1-R132X inhibitor DS-1001b. The response rate was 17.1% (6/35) in patients with enhancing lesion a… (full text at CIViC) | civic |
| IDH1 R132C1 | ||||||||
| AGI-5198 | High-Grade Glioma, NOS | Predictive | D | Supports Sensitivity Response | 2 | accepted | EID2329In an experimental in vitro study, glioma cells expressing IDH1 R132C were associated with sensitivity to AGI-5198 (IC50: 0.16M vs. IC50 > 100.00M), as compared to cells expressing wild-type IDH1. Sen… (full text at CIViC) PMID 23558169 · Rohle et al., 2013 · Open in CIViC | civic |
| IDH1 R132C + IDH1 R132G + IDH1 R132H + IDH1 R132L + IDH1 R132S1 | ||||||||
| Vorasidenib | Low Grade Glioma | Predictive | A | Supports Sensitivity Response | 5 | accepted | EID11508This 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 |
| IDH1 R132H9 | ||||||||
| (diagnostic) | GlioblastomaCURATED_BROADER | Diagnostic | A | Supports Positive | 5 | submitted | EID8629In the 2016 WHO classification for CNS tumors, IDH-mutant glioblastoma is recognized as a distinct entity. Whereas IDH-wildtype glioblastoma constitutes about 90% of cases and correspond to de novo gl… (full text at CIViC) PMID 27157931 · Louis et al., 2016 · Open in CIViC | civic |
| 〃 | Ganglioglioma | Diagnostic | B | Supports Negative | 3 | submitted | EID6125Testing of 98 tumors diagnosed as gangliogliomas identified IDH1 R132H mutations in 8 patients. Mutation was associated with increased risk of recurrence (p=0.0007), malignant transformation and/or de… (full text at CIViC) PMID 21314850 · Horbinski et al., 2011 · Open in CIViC | civic |
| (oncogenic) | Astrocytic TumorCURATED_BROADER | Oncogenic | B | |||||
| IDH1 R132S2 | ||||||||
| Bevacizumab | High-Grade Glioma, NOS | Predictive | B | Supports Sensitivity Response | 2 | submitted | EID2339In a clinical study of 63 recurrent glioma patients, patients treated with bevacizumab monotherapy (n=11) and harboring IDH1 codon 132 mutation were associated with improved progression free survival … (full text at CIViC) PMID 22199315 · Lv et al., 2011 · Open in CIViC | civic |
| Cetuximab | GlioblastomaCURATED_BROADER | Predictive | B | Supports Sensitivity Response | — | submitted | EID4033In a clinical study of 63 recurrent glioma patients, de novo glioblastoma patients treated with cetuximab monotherapy (n=27) and harboring IDH1 codon 132 mutation were associated with improved overal… (full text at CIViC) PMID 22199315 · Lv et al., 2011 · Open in CIViC | civic |
| IDH1 Mutation + IDH2 MutationIDH1IDH21 | ||||||||
| Vorasidenib | Glioma | Predictive | A | Supports Sensitivity Response | 4 | accepted | EID11708In this study, 331 patients with IDH-mutant grade 2 gliomas were either given vorasidenib (n = 168) or a placebo (n = 163). A median PFS of 27.7 months was reported in the vorasidenib group, compared … (full text at CIViC) PMID 37272516 · Mellinghoff et al., 2023 · Open in CIViC | civic |
| IDH2 R1722 | ||||||||
| (prognostic) | GlioblastomaCURATED_BROADER | Prognostic | B | Supports Better Outcome | 5 | accepted | EID482In patients with a glioblastoma, those with mutations at R172 of IDH2 had better overall survival than wild-type patients. PMID 19228619 · Yan et al., 2009 · Open in CIViC | civic |
| 〃 | Anaplastic AstrocytomaALIAS | Prognostic | B | Supports Better Outcome | 5 | accepted | EID483In patients with anaplastic astrocytoma, those with mutations at R172 of IDH2 had better overall survival than wild-type patients. PMID 19228619 · Yan et al., 2009 · Open in CIViC | civic |
| 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 |
| IL33 Overexpression1 | ||||||||
| (prognostic) | High-Grade Glioma, NOS | Prognostic | B | Supports Poor Outcome | 3 | submitted | EID8003IL33 expression was assessed by qRT-PCR, IHC, and western blot in 86 glioma (grade I-IV) tissue samples and 16 normal controls. IL33 expression was consistently shown to be elevated in glioma tissues … (full text at CIViC) PMID 27050560 · Zhang et al., 2017 · Open in CIViC | civic |
| NTRK2 Fusion4 | ||||||||
| (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 |
| (oncogenic) | Brain GlioblastomaALIAS | Oncogenic | C | Supports Oncogenicity | 1 | accepted | EID10896From 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 |
| Larotrectinib | Anaplastic Ependymoma | Predictive | C | Supports Sensitivity Response | ||||
| 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 | |||
| NTRK1 Fusion1 | ||||||||
| (oncogenic) | High-Grade Glioma, NOS | Oncogenic | C | Supports Oncogenicity | 2 | submitted | EID12609In the STARTRK-NG Phase 1/2 trial of entrectinib in pediatric patients, with extracranial solid tumors or primary CNS tumors, aged <22 years with relapsed or refractory disease, tumors with fusions… (full text at CIViC) PMID 35395680 · Desai et al., 2022 · Open in CIViC | civic |
| KIT EXPRESSION1 | ||||||||
| Sunitinib | GlioblastomaCURATED_BROADER | Predictive | B | Supports Sensitivity Response | 3 | accepted | EID10180Phase II trial of sunitinib in 40 patients with first recurrence of primary glioblastoma. Median PFS 2.2 mo, median OS 9.2 mo, 5 stable disease >=6 months, no objective responses, so primary study end… (full text at CIViC) PMID 24311637 · Hutterer et al., 2014 · Open in CIViC | civic |
| 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 |
| LRP1B Deletion1 | ||||||||
| (prognostic) | GlioblastomaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 4 | accepted | EID1645A retrospective study of 178 glioblastoma patients found that LRP1B deletion (complete transcript, N=4 or focal transcript deletion of >150kb, N=13) was associated with a lower progress free survival … (full text at CIViC) PMID 26428308 · Tabouret et al., 2015 · Open in CIViC | civic |
| MAP2K1 Q56_G61delinsL1 | ||||||||
| (diagnostic) | Multinodular and Vacuolated Neuronal TumorALIAS | Diagnostic | C | Supports Positive | 2 | submitted | EID12462A 43-year-old male with chronic headache was found to have a left frontal multinodular and vacuolating neuronal tumor (MVNT). NGS targeting 479 cancer-associated genes identified a MAP2K1 in-frame ind… (full text at CIViC) PMID 29428973 · Pekmezci et al., 2018 · Open in CIViC | civic |
| MAP2K1 Q56P1 | ||||||||
| (diagnostic) | Multinodular and Vacuolated Neuronal TumorALIAS | Diagnostic | C | Supports Positive | 2 | submitted | EID12461NGS targeting 479 cancer-associated genes were performed on two MVNT cases: a 63-year-old female with left-hand paresthesia and a 54-year-old male with long-standing epilepsy, both located in the righ… (full text at CIViC) PMID 29428973 · Pekmezci et al., 2018 · Open in CIViC | civic |
| MDM2 Amplification1 | ||||||||
| Navtemadlin + RG7112Sequential | GlioblastomaCURATED_BROADER | Predictive | D | Supports Sensitivity Response | 1 | submitted | EID9023Through the analysis of 10 patient-derived glioblastoma cells, AMG232 was found to have increased sensitivity in comparison to RG7112 with the average IC50 of 76nM vs. 720nM; thus indicating a 9.5 fol… (full text at CIViC) PMID 30022047 · Her et al., 2018 · Open in CIViC | civic |
| MET Amplification1 | ||||||||
| Crizotinib | GlioblastomaCURATED_BROADER | Predictive | C | Supports Sensitivity Response | 3 | accepted | EID1565A 62 year old female was diagnosed with glioblastoma (GBM) WHO grade 4. Treatment included radiation, temozolomide and cediranib. MET amplification was found by FISH, and ALK and MET inhibitor crizoti… (full text at CIViC) PMID 22162573 · Chi et al., 2012 · Open in CIViC | civic |
Data updated 21 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.
| Supports Oncogenicity |
| 3 |
| submitted |
EID13295In a cohort of 55 paired primary and recurrent astrocytic tumors, IDH1 R132H was detected in 24/35 (68.6%) low-grade astrocytomas by R132H-specific immunohistochemistry. DNA sequencing of informative … (full text at CIViC) PMID 28928859 · Mu et al., 2017 · Open in CIViC |
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| 〃 | Glioma | Oncogenic | B | Supports Oncogenicity | 3 | submitted | EID13296In a cohort of 685 primary brain tumors analyzed by direct sequencing, 221 somatic IDH1 codon-132 mutations were identified, of which 205 (92.7%) were IDH1 R132H. IDH1 codon-132 mutations were frequen… (full text at CIViC) PMID 18985363 · Balss et al., 2008 · Open in CIViC | civic |
| 〃 | Astrocytic TumorCURATED_BROADER | Oncogenic | B | Supports Oncogenicity | 3 | submitted | EID13297In a cohort of 670 adult diffuse gliomas assessed by mutation-specific IDH1 R132H immunohistochemistry, IDH1 R132H was detected in 20/33 (60.6%) grade II astrocytomas and 17/32 (53.1%) anaplastic astr… (full text at CIViC) PMID 27120786 · Wang et al., 2016 · Open in CIViC | civic |
| 〃 | Astrocytic TumorCURATED_BROADER | Oncogenic | B | Supports Oncogenicity | 3 | submitted | EID13298In a cohort of 1,010 WHO grade II-III diffuse gliomas assessed by direct sequencing, IDH1 R132H was identified in 143/227 (63.0%) diffuse astrocytomas and 132/228 (57.9%) anaplastic astrocytomas. Thes… (full text at CIViC) PMID 19554337 · Hartmann et al., 2009 · Open in CIViC | civic |
| 〃 | OligodendrogliomaCURATED_BROADER | Oncogenic | B | Supports Oncogenicity | 3 | submitted | EID13299In a cohort of 1,010 WHO grade II-III diffuse gliomas assessed by direct sequencing, IDH1 R132H was identified in 103/128 (80.5%) oligodendrogliomas and 111/174 (63.8%) anaplastic oligodendrogliomas. … (full text at CIViC) PMID 19554337 · Hartmann et al., 2009 · Open in CIViC | civic |
| AGI-5198 | OligodendrogliomaCURATED_BROADER | Predictive | D | Supports Sensitivity Response | 4 | accepted | EID979In pre-clinical studies, an IDH1 inhibitor (AG-5198) impaired growth of glioma / anaplastic oligodendroglioma cell lines with IDH1 R132H mutations. A phase I clinical trial of the AG-120 IDH1 inhibit… (full text at CIViC) PMID 23558169 · Rohle et al., 2013 · Open in CIViC | civic |
| Pan-Mutant-IDH1 Inhibitor Bay-1436032 | GlioblastomaCURATED_BROADER | Predictive | D | Supports Sensitivity Response | — | submitted | EID2325In an experimental study, glioblastoma cells expressing IDH1 R132H were associated with sensitivity to (bis-2-(5-phenylacetamido-1,2,4-thiadiazol-2-yl)ethyl sulfide), comparable to cells expressing wi… (full text at CIViC) PMID 21045145 · Seltzer et al., 2010 · Open in CIViC | civic |
| 4 |
| accepted |
EID10360An MRI in a previously healthy 6-year-old boy now presenting with neurologic abnormalities and seizures revealed a mass obstructing the foramen of Monro and diffuse leptomeningeal dissemination. The p… (full text at CIViC) PMID 34651095 · Mangum et al., 2021 · Open in CIViC |
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| 〃 | GlioblastomaCURATED_BROADER | Predictive | C | Supports Sensitivity Response | 3 | accepted | EID10361An MRI of 26-year-old man presenting with motor weakness and language difficultly revealed a lesion in the left frontal lobe that extended across the corpus callosum. Histologic analysis of the biopsy… (full text at CIViC) PMID 34041811 · Shepherd et al., 2021 · Open in CIViC | civic |
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 |