Malignant Nervous System Neoplasm

In a Children's Oncology Group correlative study, 242 pretherapy tumours from patients enrolled on the phase III high-risk neuroblastoma trial ANBL0532 (NCT00567567) underwent ultra-deep targeted sequ… (full text at CIViC)

PMID 40036726 · Berko et al., 2025 · Open in CIViC

ATRX deficient glioblastoma model cell lines were created using CRISPR-based gene editing to knock-out ATRX in immortalized astrocytes. ATRX knock-out cells were found to be sensitive (IC50 0.012 uM) … (full text at CIViC)

PMID 34118569 · Garbarino et al., 2021 · Open in CIViC

ATRX deficient glioblastoma model cell lines were created using CRISPR-based gene editing to knock-out ATRX in immortalized astrocytes. ATRX knock-out cells were found to be more sensitive than wild-t… (full text at CIViC)

PMID 34118569 · Garbarino et al., 2021 · Open in CIViC

ATRX deficient glioblastoma model cell lines were created using CRISPR-based gene editing to knock-out ATRX in immortalized astrocytes. The ATRX knock-out cells were found to be particularly sensitive… (full text at CIViC)

PMID 34118569 · Garbarino et al., 2021 · Open in CIViC

293 adult cases of low grade gliomas (LGGs) underwent a variety of analyses, including but not limited to exome sequencing (289 samples), copy number profiling (285), mRNA sequencing (277) and sequenc… (full text at CIViC)

PMID 26061751 · 2015, N. Engl. J. Med. · Open in CIViC

Whole exome sequencing of 4 low grade gliomas (LGGs) and targeted sequencing of 28 LGGs revealed ATRX variants are found exclusively in a subset of IDH1-mutant, 1p/19q intact LGGs. Paired blood sample… (full text at CIViC)

PMID 23104868 · Kannan et al., 2012 · Open in CIViC

In a glioblastoma mouse model induced by NRAS and p53 knockdown, ATRX loss was associated with a decreased median survival (69 days vs. 84 days; P = .0032). Also, the tumors grew to a larger size at e… (full text at CIViC)

PMID 26936505 · Koschmann et al., 2016 · Open in CIViC

A retrospective tumor sample study found that the loss of ATRX expression (less than 10% of nuclei) in IDH-mutant astrocytomas treated with temozolomide or a combination of procarbazine, lomustine and… (full text at CIViC)

PMID 23904111 · Wiestler et al., 2013 · Open in CIViC

The authors generated genome-wide DNA methylation profiles of 323 tumors with an institutional diagnosis of ‘primitive neuroectodermal tumors of the central nervous system (CNS-PNETs)’, which are hi… (full text at CIViC)

PMID 26919435 · Sturm et al., 2016 · Open in CIViC

10/323 studied high-grade primitive neuroectodermal tumors of the central nervous system (CNS-HGPNETs) clustered together based on their unique methylation profile. 10/10 of those tumors exhibited in… (full text at CIViC)

PMID 26919435 · Sturm et al., 2016 · Open in CIViC

A 67-year-old male with a diagnosis of Glioblastoma multiforme (GBM), IDH-wildtype, WHO grade 4 underwent a craniotomy with gross total resection. A BCR::NTRK2 fusion (ex1::ex17) was detected by compr… (full text at CIViC)

PMID 35673607 · Grogan et al., 2022 · Open in CIViC

In a case study, a pediatric grade IV glioblastoma multiforme patient harboring BRAF V600E mutation was associated with a complete response to vemurafenib monotherapy after 4 months of treatment, whic… (full text at CIViC)

PMID 24725538 · Robinson et al., 2014 · Open in CIViC

In a malignant peripheral nerve sheath tumor patient harboring a BRAF V600E mutation, response to vemurafenib monotherapy was reported. Upon identification of the BRAF V600E mutation, the patient was … (full text at CIViC)

PMID 24335681 · Kaplan, 2013 · Open in CIViC

In a case report, a 3‐year‐old girl with glioblastoma harboring a probable germline heterozygous BRCA2 Lys3326Ter (K3326*) nonsense variant. After debulking surgery, the patient received standard‐of‐c… (full text at CIViC)

PMID 32043779 · Valiakhmetova et al., 2020 · Open in CIViC

Across a multicenter cohort of CNS embryonal tumors (n = 9), recurrent BRD4::LEUTX fusions were identified by RNA sequencing, with all cases retaining LEUTX exon 2 and variable BRD4 breakpoints (exons… (full text at CIViC)

PMID 38500181 · Andreiuolo et al., 2024 · Open in CIViC

Predominantly high-level expression of BRD4 was found in the majority of medulloblastoma cell lines examined (HD-MB3, ONS-76, UW-228, D-341, and D-283); the exception being the Daoy cell line exhibiti… (full text at CIViC)

PMID 24231268 · Henssen et al., 2013 · Open in CIViC

This landmark study contributed to the recognition of embryonal tumor with multilayered rosettes (ETMRs) as a distinct entity in the 2016 WHO classification. Previously, ETMRs were included within the… (full text at CIViC)

PMID 19962671 · Li et al., 2009 · Open in CIViC

This study aimed to identify the mechanism underlying overexpression of a miRNA cluster on chromosome 19q13.4 (C19MC) and its oncogenicity in embryonal tumors with multilayered rosettes (ETMRs). Throu… (full text at CIViC)

PMID 24316981 · Kleinman et al., 2014 · Open in CIViC

This cohort study examined the molecular landscape of embryonal tumors with multilayered rosettes (ETMRs) at diagnosis and relapse. ETMRs have previously been shown to frequently (~90%) exhibit amplif… (full text at CIViC)

PMID 31802000 · Lambo et al., 2019 · Open in CIViC

21 SNPs were analyzed using qRT-PCR genotyping assays in 500 Neuroblastoma tumor samples, and the CASP8 D302H missense variant was found to be associated with worse overall survival (P = 0.0006; Q = 0… (full text at CIViC)

PMID 25502557 · Rihani et al., 2014 · Open in CIViC

Preclinical experiments using patient-derived GBM cell lines were performed to examine efficacy of CDK4/6 inhibitor palbociclib. The cell line CCF-STTG1 that harbours CDK6 amplification was sensitive … (full text at CIViC)

PMID 20354191 · Michaud et al., 2010 · Open in CIViC

As shown in Fig. 3a, all six NB cells showed relatively high expression levels of RNAP II, CDK2, and CDK9, suggesting that CDK2 and CDK9 may be ideal targets in NB therapy...Therefore, we hypothesize … (full text at CIViC)

PMID 27378523 · Chen et al., 2016 · Open in CIViC

This study examined two CDKN1A polymorphisms (rs1801270 and rs1059234) in 141 carriers of RB1 variants and 120 unrelated healthy individuals. Authors found that RB1 carriers were more likely to have t… (full text at CIViC)

PMID 24045412 · Carvalho et al., 2013 · Open in CIViC

This study examined two CDKN1A polymorphisms (rs1801270 and rs1059234) in 141 carriers of RB1 variants and 120 unrelated healthy individuals. Authors found that RB1 carriers were more likely to have t… (full text at CIViC)

PMID 24045412 · Carvalho et al., 2013 · Open in CIViC

This study examined two CDKN1A polymorphisms (rs1801270 and rs1059234) in 141 carriers of RB1 variants and 120 unrelated healthy individuals. Authors found the chance of developing retinoblastoma incr… (full text at CIViC)

PMID 24045412 · Carvalho et al., 2013 · Open in CIViC

In a series of 54 supratentorial ependymomas with ZFTA::RELA fusions (termed fusions between C11orf95 and RELA at time of publication), homozygous deletion of CDKN2A was found in 9 cases and hemizygou… (full text at CIViC)

PMID 32514758 · Jünger et al., 2020 · Open in CIViC

Short term explant cultures from 20 glioblastoma multiforme (GBM) tumor xenograft lines were evaluated for CDKN2A (p16 aka INK4A) expression by western blot and RT-PCR as well as deletion by aCGH and … (full text at CIViC)

PMID 22711607 · Cen et al., 2012 · Open in CIViC

This is a report about CIC-LEUTX gene fusion (CIC exon 20 to LEUTX exon 3 ) in a CNS embryonal tumor from a 2-year-old male, and the report also reviewed the clinical and pathological features of 3 ot… (full text at CIViC)

PMID 33344249 · Hu et al., 2020 · Open in CIViC

A comparison of tyrosine kinase inhibitors that target glioma tumour cells directly or the tumour microenvironment were tested on a PDGF-B-driven glioma genetically engineered mouse model (PDG). PDG m… (full text at CIViC)

PMID 28759044 · Yan et al., 2017 · Open in CIViC

A comparison of tyrosine kinase inhibitors that target glioma tumour cells directly or the tumour microenvironment were tested on a PDGF-B-driven glioma genetically engineered mouse model (PDG). The C… (full text at CIViC)

PMID 28759044 · Yan et al., 2017 · Open in CIViC

A retrospective study evaluated 72 pediatric medulloblastoma patients for CTNNB1 mutations (by direct sequencing), copy number alterations (by array-comparative genomic hybridization), and beta-cateni… (full text at CIViC)

PMID 19197950 · Fattet et al., 2009 · Open in CIViC

In a study of 109 pediatric medulloblastomas, children with medulloblastomas that showed a nucleopositive beta-catenin immunophenotype (27 of 109; 25%) had significantly better overall (OS) and event-… (full text at CIViC)

PMID 16258095 · Ellison et al., 2005 · Open in CIViC

A total of 51 medulloblastomas from two independent cohorts (19 and 32 cases) were assessed for evidence of Wnt/Wg pathway activation, alongside a genome-wide analysis of associated copy-number aberra… (full text at CIViC)

PMID 17172831 · Clifford et al., 2006 · Open in CIViC

A retrospective study evaluated 72 pediatric medulloblastoma patients for CTNNB1 mutations (by direct sequencing), copy number alterations (by array-comparative genomic hybridization), and beta-cateni… (full text at CIViC)

PMID 19197950 · Fattet et al., 2009 · Open in CIViC

A retrospective study evaluated 72 pediatric medulloblastoma patients for CTNNB1 mutations (by direct sequencing), copy number alterations (by array-comparative genomic hybridization), and beta-cateni… (full text at CIViC)

PMID 19197950 · Fattet et al., 2009 · Open in CIViC

A retrospective study evaluated 72 pediatric medulloblastoma patients for CTNNB1 mutations (by direct sequencing), copy number alterations (by array-comparative genomic hybridization), and beta-cateni… (full text at CIViC)

PMID 19197950 · Fattet et al., 2009 · Open in CIViC

The expression of CUL7 was found to be significantly higher in glioma samples than normal brain tissue, and increased with tumour grade. The prognostic value of CUL7 was examined in TCGA LGG (n=457) a… (full text at CIViC)

PMID 32252802 · Xu et al., 2020 · Open in CIViC

An analysis of 13 infants with pituitary blastoma (age 7-24 months) demonstrated recurrent DICER1 mutations. Of those with samples available for sequencing, 9 of 9 (100%) had germline DICER1 mutation… (full text at CIViC)

PMID 24839956 · de Kock et al., 2014 · Open in CIViC

This 2021 paper analyzed the outcomes and complications of 17 patients with pituitary blastoma. The median age of diagnosis was 11 months with a range of 2-24 months. Germline DICER1 variants were… (full text at CIViC)

PMID 33236116 · Liu et al., 2021 · Open in CIViC

In the phase 2 trial, patients with recurrent glioblastoma were treated with dopamine receptor D2 (DRD2) antagonist ONC201. DRD5 is a dopamine receptor family member that opposes DRD2 signaling. All t… (full text at CIViC)

PMID 30559168 · Prabhu et al., 2019 · Open in CIViC

Preclinical experiments with 27 GBM patient-derived cell lines showed selective sensitivity to the PARP inhibitor talazoparib in EGFR amplified samples relative to EGFR wild-type samples (p<0.0001). F… (full text at CIViC)

PMID 31852834 · Wu et al., 2020 · Open in CIViC

Case report of a 58-year old patient with disease progression after radiotherapy and three temozolomide cycles. Afatinib and temozolomide led to disease regression. At last assessment 63 treatment cyc… (full text at CIViC)

PMID 26423602 · Alshami et al., 2015 · Open in CIViC

RNASeq data from 161 primary GBM samples and 24 glioma spheroids were analysed for gene fusion events. EGFR::SEPT14 was found to be the most common fusion event, after the well-documented FGFR3::TACC3… (full text at CIViC)

PMID 23917401 · Frattini et al., 2013 · Open in CIViC

Seminal paper presenting the original analysis of the TCGA Glioblastoma dataset, of over 500 glioblastoma genomes. EFGR::SEPT14 fusion was found in 6 cases by WGS and confirmed by RNASeq. The fusion i… (full text at CIViC)

PMID 24120142 · Brennan et al., 2013 · Open in CIViC

In a single-center retrospective review of recurrent malignant gliomas with EGFR alterations (n = 6, 2 GBM), osimertinib showed a manageable safety profile with thrombocytopenia in 2 patients (grade 2… (full text at CIViC)

PMID 35601813 · Abousaud et al., 2021 · Open in CIViC