Central Nervous System Neoplasm

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

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 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 (9 yo) with … (full text at CIViC)

PMID 35395680 · Desai et al., 2022 · 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

A 7 month old male had a large cystic mass in his brain surgically resected. Pathological analysis determined the mass to be an infantile high-grade glioma and transcriptome sequencing of the tumor RN… (full text at CIViC)

PMID 33403813 · Waters et al., 2021 · Open in CIViC

From a phase one clinical trial, pediatric patients with refractory CNS malignancies were administered 300-1150 mg/m2 twice daily of ERBB2 and EGFR inhibitor lapatinib. The maximum-tolerated dose was … (full text at CIViC)

PMID 20713864 · Fouladi et al., 2010 · Open in CIViC

In the STARTRK-NG Phase 1/2 trial of entrectinib in pediatric patients, one patient (4 yo) with Biphasic and spindled epithelioid glial neoplasm had ETV6::NTRK3 fusion. The patient received che… (full text at CIViC)

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

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

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

Kaplan-Meier analysis of EZH2 gene expression showed that elevated expression is significantly associated with shorter disease-free survival in GBM (p=1.3e-12).

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

This preclinical study proposed to use a combination therapy of an MEK inhibitor (e.g. trametinib) and an mTOR inhibitor (e.g. everolimus) for the treatment of pediatric low-grade gliomas (PLGGs) with… (full text at CIViC)

PMID 29156677 · Jain et al., 2017 · Open in CIViC

This GWAS study identified a structural variant of FGFR1. Duplication of the tyrosine kinase domain (TKD) of FGFR1 was found in 11 of 149 patients (13/151 tumor samples, including 2 recurrent tumors, … (full text at CIViC)

PMID 23583981 · Zhang et al., 2013 · Open in CIViC

Two new recurrent alterations within the kinase domain of FGFR1 in Pilocytic Astrocytoma (PA) were identified. The p.Asn546Lys variant (3 of 96 samples) had been shown in another study to increase kin… (full text at CIViC)

PMID 23817572 · Jones et al., 2013 · Open in CIViC

Case report of a 32-year old male patient with pilocytic astrocytoma. Genomic profiling (FoundationOne) revealed a FGFR1 N546K mutation. The patient was enrolled in a phase I/II trial of pemigatinib a… (full text at CIViC)

PMID 35507888 · Capone et al., 2022 · Open in CIViC

In the phase II NCI-MATCH EAY131-K2 trial, a patient with a WHO grade I dysembryoplastic neuroepithelial tumor harboring an FGFR1-TACC1 fusion had stable disease with a 24.2% maximum reduction in meas… (full text at CIViC)

PMID 38603650 · Gong et al., 2024 · Open in CIViC