Nervous System Neoplasm

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

The expression of CTGF (CCN2) is significantly higher in TCGA LGG and GBM cohorts compared to non-tumour tissue (P<0.05). Levels of CTGF mRNA and protein were found to be higher in glioma than non-tum… (full text at CIViC)

PMID 32197031 · Song et al., 2020 · 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

CDKN2A deletion was identified in 24 of 273 patients with PLGGs using FISH analysis. An association between this alteration and BRAFV600E was detected (p=0.0001). Hemispheric tumors with CDKN2A deleti… (full text at CIViC)

PMID 29948154 · Yang et al., 2018 · 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

In a phase 1/2 trial of entrectinib in pediatric patients, tumors with fusions in NTRK, ROS1, or ALK had an overall response (ORR) of 57.7% (95% CI; 36.9-76.7). This included one patient (3 yo) with … (full text at CIViC)

PMID 35395680 · Desai et al., 2022 · Open in CIViC

In an in vitro study, a Ba/F3 cell line expressing EGFR A289V demonstrated increased sensitivity to erlotinib treatment, compared to Ba/F3 cells expressing EGFR wild-type. Variant function was assesse… (full text at CIViC)

PMID 17177598 · Lee et al., 2006 · 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

The study utilises a targeted gene fusion RNASeq panel to screen 356 diffuse gliomas for fusion events. Of these, 155 cases were IDH-wildtype glioblastomas, of which 2 harboured an EGFR::SEPT14 fusion… (full text at CIViC)

PMID 32761533 · Woo et al., 2020 · Open in CIViC

In glioblastoma models expressing EGFR vIVa (lack of exons 25-27), a C-terminal deletion mutant that shows constitutive basal autophosphorylation and ligand-independent activation of ERK, AKT, and STA… (full text at CIViC)

PMID 20676128 · Pines et al., 2010 · Open in CIViC

A single-arm phase 2 trial evaluated the benefit of adding nimotuzumab to standard chemo-radiation treatment for GBM. 36 patients were evaluable for efficacy, all of whom had EGFR positive tumours by … (full text at CIViC)

PMID 31289592 · Du et al., 2019 · Open in CIViC

Patient-derived GBM brain tumour stem cells (BTSCs) were used to test the efficacy of EGFR inhibitors in vitro. Afatinib inhibited the growth and sphere-forming ability of BTSCs but not normal astrocy… (full text at CIViC)

PMID 32226941 · Jensen et al., 2020 · Open in CIViC

Patient-derived GBM brain tumour stem cells (BTSCs) were used to test the efficacy of the EGFR inhibitor afatinib and JAK2 inhibitor pacritinib in vitro. Combination treatment with afatinib and pacrit… (full text at CIViC)

PMID 32226941 · Jensen et al., 2020 · Open in CIViC

In an in vitro study, a Ba/F3 cell line expressing EGFR L858R demonstrated increased sensitivity to erlotinib treatment, compared to Ba/F3 cells expressing EGFR wild-type. Variant function was assesse… (full text at CIViC)

PMID 17177598 · Lee et al., 2006 · Open in CIViC