Cancer Family
Neuroepithelial, Perineurial, and Schwann Cell Neoplasm
CI-CAN-00000039Explore in graph →
Non-malignant864 active trials6 approved drugs159 evidence items
- 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 |
|---|---|---|---|---|---|---|---|---|
| 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 |
| 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 Expression1 | ||||||||
| (prognostic) | GlioblastomaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 3 | submitted | EID7977In a trial of 68 glioblastoma patients treated with either temozolomide or semustine, MGMT expression was found to be inversely correlated with survival. Patients in the MGMT high expression group (n=… (full text at CIViC) PMID 24248532 · Wang et al., 2014 · Open in CIViC | civic |
| MGMT Promoter Methylation7 | ||||||||
| (prognostic) | GlioblastomaCURATED_BROADER | Prognostic | B | Supports Better Outcome | 5 | accepted | EID491In patients with glioblastoma, those with methylated MGMT promoters have better overall survival than those with unmethylated promoters. PMID 15758010 · Hegi et al., 2005 · Open in CIViC | civic |
| 〃 | GlioblastomaCURATED_BROADER | Prognostic | B | Supports Better Outcome | 4 | accepted | EID172MGMT promoter methylation was associated with increased overall and disease-free survival as well as tumor regression in patients with gliomas. PMID 11070098 · Esteller et al., 2000 · Open in CIViC | civic |
| 〃 | OligodendrogliomaCURATED_BROADER | Prognostic | B | Supports | ||||
| MGMT RS169062521 | ||||||||
| Temozolomide | GlioblastomaCURATED_BROADER | Predictive | B | Supports Sensitivity Response | 3 | accepted | EID822The T allele of the rs16906252 SNP was associated with MGMT methylation and low protein expression. Germline presence of the T allele increased the risk of glioblastoma development (adjusted odds rati… (full text at CIViC) PMID 25910840 · Rapkins et al., 2015 · Open in CIViC | civic |
| MGMT Underexpression4 | ||||||||
| Temozolomide | GlioblastomaCURATED_BROADER | Predictive | B | Supports Sensitivity Response | 3 | accepted | EID2899In this study, patients with low MGMT expression, compared with patients with high MGMT expression, had a significantly higher response rate (55% v 7%, respectively; P = .004) and improved PFS (median… (full text at CIViC) PMID 17442989 · Chinot et al., 2007 · Open in CIViC | civic |
| 〃 | High-Grade Glioma, NOS | Predictive | B | Supports Sensitivity Response | 3 | accepted | EID2901This study showed that low MGMT mRNA expression was strongly predictive for prolonged time to progression, treatment response, and length of survival in univariate and multivariate models (p<0.0001). … (full text at CIViC) PMID 21365007 · Kreth et al., 2011 · Open in CIViC | civic |
| 〃 | GlioblastomaCURATED_BROADER | Predictive | ||||||
| MIR21 Overexpression2 | ||||||||
| (prognostic) | Glioma | Prognostic | B | Supports Poor Outcome | 3 | submitted | EID8000High expression of miR-21 was shown to be associated with worse OS (p<0.001) and PFS (p<0.001) in a Kaplan-Meier analysis of TCGA glioma dataset (n=641). Multivariate Cox regression analysis also show… (full text at CIViC) PMID 32144351 · Jiang et al., 2020 · Open in CIViC | civic |
| 〃 | Anaplastic AstrocytomaALIAS | Prognostic | B | Supports Poor Outcome | 3 | submitted | EID8001The expression of a set of miRNAs was evaluated by qRT-PCR in 124 astrocytoma (grade I-IV) samples and 60 adjacent normal tissue samples in order to determine miRNAs with altered expression in astrocy… (full text at CIViC) PMID 20219352 · Zhi et al., 2010 · Open in CIViC | civic |
| BEND2 Fusion1 | ||||||||
| (diagnostic) | Astroblastoma, MN1-Altered | Diagnostic | B | Supports Positive | 4 | accepted | EID8510The authors studied tumors carrying a diagnosis of CNS primitive neuroectodermal tumors (PNETs). They identified four novel DNA methylation-defined brain tumor groups. One group, designated high-grade… (full text at CIViC) PMID 26919435 · Sturm et al., 2016 · Open in CIViC | civic |
| BEND2 Fusion + CXXC5 FusionCXXC5BEND21 | ||||||||
| (diagnostic) | Astroblastoma, MN1-AlteredALIAS | Diagnostic | B | Supports Positive | 3 | submitted | EID12688In a clinicopathologic and molecular series of astroblastoma (n = 8; biomarker MN1 rearrangement; primary endpoint diagnostic detection), MN1 break-apart FISH identified rearrangements in all informat… (full text at CIViC) PMID 28990708 · Hirose et al., 2018 · Open in CIViC | civic |
| MN1 Rearrangement3 | ||||||||
| (diagnostic) | Astroblastoma, MN1-Altered | Diagnostic | B | Supports Positive | 4 | accepted | EID1207810 of 27 cases of histologically defined astroblastomas studied demonstrated an inferred MN1 rearrangement by break-apart FISH testing. Of these, all eight cases with material available for methylati… (full text at CIViC) PMID 30876455 · Lehman et al., 2019 · Open in CIViC | civic |
| (prognostic) | Astroblastoma, MN1-Altered | Prognostic | B | Supports Better Outcome | 4 | accepted | EID12079In an analysis of 27 histologically defined astroblastomas, 10 had MN1 rearrangements, 7 had BRAF p.V600E mutations, 2 had RELA rearrangements, and 8 had none of these drivers identified. Astroblasto… (full text at CIViC) PMID 30876455 · Lehman et al., 2019 · Open in CIViC | civic |
| (diagnostic) | Astroblastoma, MN1-Altered | Diagnostic | B | Supports Positive | 3 | accepted | ||
| 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 Loss3 | ||||||||
| Bevacizumab + EverolimusCombination | Malignant Peripheral Nerve Sheath Tumor | Predictive | B | Does Not Support Sensitivity Response | 2 | submitted | EID7727Sporadic and Neurofibromatosis Type 1 (NF1) related refractory Malignant Peripheral Nerve Sheath Tumors (MPNST) showed no significant clinical benefit when treated with Everolimus in Combination with … (full text at CIViC) PMID 31427883 · Widemann et al., 2019 · Open in CIViC | civic |
| JQ1 Compound | Malignant Peripheral Nerve Sheath Tumor | Predictive | D | Supports Sensitivity Response | 3 | accepted | EID1743BRD4 inhibition supressess growth and tumorigenesis of NF1-/-, TP53-/- MPNST cells in mouse xenografts PMID 24373973 · Patel et al., 2014 · Open in CIViC | civic |
| Trametinib | Neurofibroma | Predictive | C | Supports Sensitivity Response | ||||
| NF1 Mutation6 | ||||||||
| (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 | Plexiform Neurofibroma | Predictive | A | Supports Sensitivity Response | 4 | accepted | EID11176In a pediatric phase 2 trial of the MEK inhibitor selumetinib (NCT01362803), partial responses were seen in 70% (35 of 50) children with neurofibromatosis type 1 and symptomatic inoperable plexiform n… (full text at CIViC) PMID 32187457 · Gross et al., 2020 · Open in CIViC | civic |
| 〃 | Plexiform Neurofibroma | Predictive | A | Supports Sensitivity Response | 3 | |||
| PA-NF1 + NF1 Mutation3 | ||||||||
| (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 |
| 〃 | Anaplastic AstrocytomaALIAS | Diagnostic | B | Supports Positive | 4 | submitted | EID12268This 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 | Anaplastic AstrocytomaALIAS | Predictive | ||||||
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.
| 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 |
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| Carmustine | GlioblastomaCURATED_BROADER | Predictive | B | Supports Sensitivity Response | 4 | accepted | EID308MGMT promoter methylation has been shown to confer sensitivity to alkylating agents, such as carmustine, in glioblastoma cells. PMID 11070098 · Esteller et al., 2000 · Open in CIViC | civic |
| Lomustine + TemozolomideCombination | GlioblastomaCURATED_BROADER | Predictive | A | Supports Sensitivity Response | 3 | submitted | EID7303In a small Phase 3 trial, patients with newly diagnosed glioblastoma with methylation of the MGMT promoter randomely assigned to lomustine plus temozolomide in addition to radiotherapy (n=66) or temoz… (full text at CIViC) PMID 30782343 · Herrlinger et al., 2019 · Open in CIViC | civic |
| O6-Benzylguanine | GlioblastomaCURATED_BROADER | Predictive | E | Supports Sensitivity Response | 4 | accepted | EID309In patients lacking MGMT promoter methylation, the use of an MGMT inhibitor, such as O(6)-benzylguanine, in combination with alkylating agents (Carmustine) may be useful in treating patients with init… (full text at CIViC) PMID 11070098 · Esteller et al., 2000 · Open in CIViC | civic |
| Temozolomide | GlioblastomaCURATED_BROADER | Predictive | A | Supports Sensitivity Response | 5 | accepted | EID307In a randomized clinical trial, patients with MGMT promoter methylation benefitted from temozolomide. This benefit was also methylation status dependent, as those without methylation did not see incre… (full text at CIViC) PMID 15758010 · Hegi et al., 2005 · Open in CIViC | civic |
| B |
| Supports Sensitivity Response |
| 3 |
| accepted |
EID2903In 41 glioblastomas treated with temozolomide (TMZ) therapy (MGMT-immunopositive: n = 22, negative: n = 19), both progression free survival and overall survival were significantly better in MGMT-immun… (full text at CIViC) PMID 21331613 · Watanabe et al., 2011 · Open in CIViC |
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| 〃 | 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 |
EID12077The authors reviewed histologically diagnosed astroblastomas at the National Institute of Mental Health and Neurosciences (Bangalore, India) between 2011 and 2018. Eight cases were identified and were… (full text at CIViC) PMID 31111274 · Mhatre et al., 2019 · Open in CIViC |
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| 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 |
| civic |
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 |
| 2 |
| rejected |
EID7265A 12-year-old child with Neurofibromatosis 1 (NF1) with multiple cutaneous and paraspinal neurofibromas responsible for impaired walking, motor deficiency and pain. A treatment with Trametinib was ini… (full text at CIViC) PMID 30174724 · Papalia et al., 2018 · Open in CIViC |
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| accepted |
EID1958Treatment with selumetinib (NCT01362803) resulted in confirmed partial, long term responses in 17 of the 24 children with NF1 associated plexiform fibromas (71%) and decreases from baseline in neurofi… (full text at CIViC) PMID 28029918 · Dombi et al., 2016 · Open in CIViC |
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| 〃 | Plexiform Neurofibroma | Predictive | B | Supports Sensitivity Response | 4 | submitted | EID7266Patients with Neurofibromatosis 1, inoperable Plexiform Neurofibroma and disease related morbidity received selumetinib. Best response PR (36 pts, 72%), stable disease (12 pts, 24%); 2 subjects (4%) h… (full text at CIViC) | civic |
| 〃 | 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 |
| Tipifarnib | Neurofibroma | Predictive | B | Does Not Support Sensitivity Response | 4 | submitted | EID7426In a randomized phase 2 trial, patient with neurofibromatosis type 1 (NF1) related progressive plexiform neurofibromatomas was allocated to farnesyltransferase inhibitor tipifarnib or placebo. Tipifar… (full text at CIViC) PMID 24500418 · Widemann et al., 2014 · Open in CIViC | civic |
| C |
| Supports Sensitivity Response |
| 3 |
| submitted |
EID12270This 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 |
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