Diffuse Glioma

In this phase II trial on patients with pediatric low-grade glioma were assigned to six unique strata according to histology, tumour location, NF1 status, and BRAF aberration status. This study report… (full text at CIViC)

PMID 31151904 · Fangusaro et al., 2019 · Open in CIViC

In this ongoing phase 2 trial (FIREFLY-1), 76 patients, aged 6 months to 25 years, with pediatric low-grade glioma harbouring BRAF alterations (BRAF fusions or BRAF V600E mutations) were treated with … (full text at CIViC)

PMID 37978284 · Kilburn et al., 2024 · Open in CIViC

In this phase 2 clinical trial, the efficacy of RAF inhibitor tovorafenib (DAY-101) was investigated in patients between the ages of 6 months and 25 years, with pediatric low-grade gliomas harbouring … (full text at CIViC)

PMID 37978284 · Kilburn et al., 2024 · 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

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

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

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

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

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 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

In an in vitro study, a Ba/F3 cell line expressing EGFR L861Q 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

In patients with glioblastoma multiforme, those with overespression of wild-type EGFR had shorter overall survival.

PMID 14583498 · Shinojima et al., 2003 · Open in CIViC

"Classical" glioblastoma patients (referred to as group IGS-18) exhibited overexpression of EGFR and showed improved survival with combination therapy of bevacizumab and lomustine with a median OS 11.… (full text at CIViC)

PMID 26762204 · Erdem-Eraslan et al., 2016 · Open in CIViC

In an in vitro study, a Ba/F3 cell line expressing EGFR R108K 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

The study presents a new fusion detection algorithm, CICERO ("CICERO Is Clipping Extended for RNA Optimization"). The authors compare their pipeline to gene fusions reported by TCGA network, using the… (full text at CIViC)

PMID 32466770 · Tian et al., 2020 · Open in CIViC

In this article, the authors develop a method to detect gene fusion events using RNA-seq data and apply it to nearly 7,000 samples from The Cancer Genome Atlas (TCGA). Through this approach, they iden… (full text at CIViC)

PMID 25204415 · Stransky et al., 2014 · Open in CIViC

In an in vitro study, a Ba/F3 cell line expressing EGFR T263P 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

Patient-derived GBM brain tumour stem cells (BTSCs) were used to test the efficacy of the EGFR inhibitor afatinib in vitro and in vivo. Afatinib inhibited the growth and sphere-forming ability of BTSC… (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 and in vivo. Combination treatment with subopti… (full text at CIViC)

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

Exome DNA sequencing was performed in 291 glioblastomas, 42 with whole genome sequencing, to update the TCGA dataset. Whole Genome Sequencing was performed on 42 of the samples, and ten of these demo… (full text at CIViC)

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

EGFR::VSTM2A was identified by RNA-seq in tumor sample derived from 1/78 recurrent glioblastoma patients who benefited from combined beva/CCNU (bevacizumab in combination with lomustine) in the BELOB … (full text at CIViC)

PMID 26762204 · Erdem-Eraslan et al., 2016 · Open in CIViC

In the STARTRK-NG Phase 1/2 trial of entrectinib in pediatric patients, with extracranial solid tumors or primary CNS tumors, aged <22 years with relapsed or refractory disease, tumors with fusions… (full text at CIViC)

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

From a retrospective review of 38,095 tumor samples from 33,997 patients using DNA sequencing (MSK-IMPACT) and RNA sequencing (MSK-Fusion panel) identified 87 tumors with NTRK1-3 fusions. One case of… (full text at CIViC)

PMID 31375766 · Solomon et al., 2020 · Open in CIViC