Diffuse Glioma

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

The 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

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

Tumor cell line generated from pediatric high-grade glioma patient was found to have amplification of PDGFRA and FGF2. Gene expression of PDGFRA and FGF2 was found to be in the 99th percentile compare… (full text at CIViC)

PMID 27582545 · Koschmann et al., 2016 · Open in CIViC

In this multicenter, open-label, multi-arm, phase 2 trial, 65 patients with PI3K pathway aberrations (defined by PTEN and pAKT IHC-Status in 95%, genomic testing in 5%) were treated with the PI3K inhi… (full text at CIViC)

PMID 30715997 · Wen et al., 2019 · Open in CIViC

In this multicenter, open-label, multi-arm, phase 2 trial, 65 patients with PI3K pathway aberrations (defined by PTEN and pAKT IHC-Status in 95%, genomic testing in 5%) were treated with the PI3K inhi… (full text at CIViC)

PMID 30715997 · Wen et al., 2019 · Open in CIViC

Kaplan-Meier analysis of PLK1 gene expression showed that elevated expression is significantly associated with shorter disease-free survival in GBM (p=9.1e-11).

PMID 32180229 · Li et al., 2020 · Open in CIViC

Two siblings (6 and 3.5 years) from nonconsanguineous parents were diagnosed with glioblastoma multiforme. Both tumors harbored TP53 mutations and lack of MGMT promoter hypermethylation as poor progno… (full text at CIViC)

PMID 27001570 · Bouffet et al., 2016 · Open in CIViC

Case report of a patient with glioblastoma multiforme and POLE germline mutation. The patient was treated with pembrolizumab and lymphocyte infiltration was noted after resection of a spinal metastasi… (full text at CIViC)

PMID 27683556 · Johanns et al., 2016 · Open in CIViC

A 14-year old patient with bi-allelic PMS2 pathogenic germline variants (c.2 T>A, p.M1K and c.2521del, p.W841Gfs*10) and a diagnosis of constitutional mismatch repair deficiency (CMMRD) was diagnosed … (full text at CIViC)

PMID 38773265 · Palova et al., 2024 · Open in CIViC

Fusions involving neurotrophic tyrosine receptor kinase (NTRK) genes can promote gliomagenesis. While they varied in histological qualifications, nearly all the fused gliomas implicated a variant of t… (full text at CIViC)

PMID 32665022 · Torre et al., 2020 · Open in CIViC

In this preclinical study, the EGFR inhibitor dacomitinib had an effect on cell viability, self-renewal and proliferation in EGFR amplified GBM cells in-vitro and in-vivo (with or without the EGFRvIII… (full text at CIViC)

PMID 25939761 · Zahonero et al., 2015 · Open in CIViC

49 patients (26 pretreatment tissues available for analysis) with recurrent glioblastomas who were treated with EGFR TKIs were analyzed in this study. Results were confirmed in an independent cohort o… (full text at CIViC)

PMID 16282176 · Mellinghoff et al., 2005 · Open in CIViC

Rasheed et al. identified that PTEN mutations occur with significantly greater frequency in adults with high-grade gliomas (42 adult glioblastoma multiforme and 13 adult anaplastic astrocytoma) compar… (full text at CIViC)

PMID 9331072 · Rasheed et al., 1997 · Open in CIViC

In this multicenter, open-label, multi-arm, phase 2 trial, 65 patients with PI3K pathway aberrations (defined by PTEN and pAKT IHC-Status in 95%, genomic testing in 5%) were treated with the PI3K inhi… (full text at CIViC)

PMID 30715997 · Wen et al., 2019 · Open in CIViC

Bostrom et al identified R173C in the tumor sample of 1 subject (out of 36 glioblastomas tested). By PCR mRNA expression of PTEN was assayed for tumor samples harboring PTEN variants. PTEN expression… (full text at CIViC)

PMID 9426052 · Boström et al., 1998 · Open in CIViC

Fults et al identified 1 R173C mutation in a glioblastoma (of 45 tested). The tumor also displayed either all or partial LOH of 10q, there was no further resolution of the LOH size or mutational testi… (full text at CIViC)

PMID 9499454 · Fults et al., 1998 · Open in CIViC

PTEN nonsense mutations, including R233*, have been shown to be inactivating and loss-of-function, but do not have prognostic value in glioblastoma multiforme patients.

PMID 22479427 · Carico et al., 2012 · Open in CIViC

Genetic 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

From 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

Molecular profiling of 13 patients with polymorphous low-grade neuroepithelial tumor of the young (PLNTY) at Mayo Clinic, identified 1 patient (15 yo female) with a QKI::NTRK2 (e6::e15) fusion.

PMID 34363682 · Ida et al., 2021 · Open in CIViC