Neuroepithelial Neoplasm

An 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

In 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

In 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

In 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

MGMT 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

The 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

In 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

This 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

High 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

The 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

The 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

In 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

10 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

In 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

In 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

MYB 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

Histological, 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

Copy-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

A 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

The 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

Comprehensive 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

The 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

A 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

A 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

This 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

In 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

This 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

This 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

This 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

This 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

This 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

Single 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

Blood 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

RNAseq data of 162 glioblastoma patients identified NTRK1 fusions with both NFASC and BCABN. By analyzing exome and RNA data, the NFASC-NTRK1 fusion was found to retain NTRK1's kinase and transmembran… (full text at CIViC)

PMID 24647444 · Kim et al., 2014 · Open in CIViC

Mutations at codon K385 are specific to glial and glioneuronal tumors. In addition, tumors with these mutations do not typically have other pathogenic mutations in other typical brain-cancer-associate… (full text at CIViC)

PMID 30006677 · Solomon et al., 2018 · Open in CIViC

PDGFRA K385L (6) or K385I (2) mutations were identified as the sole somatic pathogenic alteration in 8 patients with low-grade glioneuronal tumors; furthering defining "Myxoid glioneuronal tumor, PDGF… (full text at CIViC)

PMID 31609499 · Lucas et al., 2020 · Open in CIViC