Nervous System Neoplasm

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

Within this preclinical study, 87 patients with neuroblastoma and 14 neuroblastoma cell lines were evaluated for overexpression of EZH2 and possible prognostic factors. In patient samples the average … (full text at CIViC)

PMID 28214660 · Bate-Eya et al., 2017 · 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 neuroblastoma, high FGFR1 expression is associated with metastatic and relapsed tumors and inferior relapse-free survival, suggesting its role in promoting disease progression and recurrence. In vi… (full text at CIViC)

PMID 35488346 · Cimmino 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

In a phase 1 multihistology trial of the FGFR1/2/3/4 inhibitor futibatinib, an objective response rate of 13.7% was seen with responses in a broad spectrum of tumors and across a broad spectrum of FGF… (full text at CIViC)

PMID 34551969 · Meric-Bernstam et al., 2022 · Open in CIViC

Rat1A astrocytes cells expressing the FGFR3-TACC3-K508M were tested to evaluate anchorage-independent growth in soft agar (Fig. 2A and table S5) and did not show an ability to grow evidenced by no col… (full text at CIViC)

PMID 22837387 · Singh et al., 2012 · Open in CIViC

In the phase II NCI-MATCH EAY131-K2 trial, two patients with WHO grade IV IDH1/2-wildtype glioblastoma harboring FGFR3 fusions experienced progression-free survival exceeding 168 days during erdafitin… (full text at CIViC)

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

Phase II study (NCT02465060) from NCI-MATCH Trial (EAY131) Subprotocol W addressed the use of AZD4547 (an FGFR 1-3 inhibitor) in 48 tumor patients carrying FGFR 1-3 variants. Partial responses were ob… (full text at CIViC)

PMID 32463741 · Chae et al., 2020 · Open in CIViC

From UniProt: A chromosomal aberration involving FOXO3 is found in secondary acute leukemias.

PMID 26822237 · Parsons et al., 2016 · Open in CIViC

Transcriptional activator which triggers apoptosis in the absence of survival factors, including neuronal cell death upon oxidative stress.

PMID 26822237 · Parsons et al., 2016 · Open in CIViC

In the 2016 study by Sturm et al., the authors performed comprehensive molecular profiling, including DNA methylation arrays, transcriptomics, and genome-wide sequencing, on 323 institutionally diagno… (full text at CIViC)

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

DNA methylation profiling of 84 tumors initially diagnosed as CNS-PNET identified CNS neuroblastoma with FOXR2 activation (CNS NB-FOXR2) as a distinct molecular subgroup, presented in 24% (20/84) of c… (full text at CIViC)

PMID 33536079 · Korshunov et al., 2021 · Open in CIViC

FUBP1 truncating mutations occur somatically with high specificity for adult oligodendroglioma and are considered oncogenic in that setting

PMID 21817013 · Bettegowda et al., 2011 · 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

Ectopic expression of GOPC–ROS1 in Ba/F3 cells induced cytokine-independent growth whereas overexpression of ROS1 alone did not. Using a series of tyrosine kinase inhibitors, lorlatinib was the most e… (full text at CIViC)

PMID 30171048 · Davare et al., 2018 · 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 (4 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