Anaplastic Malignant Neoplasm

The authors used whole exome sequencing on 39 midline pediatric high-grade astrocytomas (pHGAs) and identified 5 with mutations in ACVR1, with 2 occurring at G328 (G328V and G328E). The authors state … (full text at CIViC)

PMID 24705250 · Fontebasso et al., 2014 · Open in CIViC

Two patients with IDH wild-type, MGMT promoter unmethylated glioblastoma were treated with crizotinib. Patient 1 had weak expression of ALK in 25% of tumor tissue and polysomy of ALK in 53% of nuclei;… (full text at CIViC)

PMID 26498130 · Le Rhun et al., 2015 · Open in CIViC

In an in vitro study, a FL5.12 cell line expressing NPM1-ALK (a known sensitizing alteration to crizotinib) and an ALK F1174L co-mutation, demonstrated resistance to ceritinib treatment (IC50: 140.45 … (full text at CIViC)

PMID 27009859 · Amin et al., 2016 · Open in CIViC

In an in vitro study, a FL5.12 cell line expressing NPM1-ALK (a known sensitizing alteration to crizotinib) and an ALK G1269A co-mutation, demonstrated resistance to crizotinib treatment (IC50: 871.75… (full text at CIViC)

PMID 27009859 · Amin et al., 2016 · Open in CIViC

In an in vitro study, Karpas299CR cells expressing NPM-ALK fusion (a known sensitizing alteration to crizotinib) and an ALK I1171T co-mutation, demonstrated resistance to crizotinib treatment compared… (full text at CIViC)

PMID 24509625 · Zdzalik et al., 2014 · Open in CIViC

In an in vitro study, cell lines expressing NPM-ALK L1196Q, K299CR06 (endogenous expression) and Ba/F3 (overexpression), demonstrated resistance to crizotinib treatment (IC50: 948 nmol/L and 212 nmol/… (full text at CIViC)

PMID 23239810 · Ceccon et al., 2013 · 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

Glioblastoma cell lines were shown to have increased sensitivity to Temozolomide when siRNA-induced ATM knockdown was applied.

PMID 23960094 · Eich et al., 2013 · 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

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

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 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

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

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

In a targeted sequencing study of 28 patients with sarcomatoid hepatocellular carcinoma (SHC), one case hand an NTRK1 fusion involving the intergenic region downstream of CRABP2 and NTRK1 exon 9 (NM_0… (full text at CIViC)

PMID 36741696 · Jia et al., 2022 · 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

Analysis of DICER1 mutations in tumor/normal pairs from pediatric patients (7 months to 13 yo) with anaplastic sarcoma of the kidney identified a somatic RNase IIIb DICER1 mutation in 8 of 9 cases (89… (full text at CIViC)

PMID 28862265 · Wu et al., 2018 · Open in CIViC

An analysis of DICER1 mutations in anaplastic sarcoma of the kidney identified RNase IIIb DICER1 mutations in 8 of 9 cases (89%). An in vitro cleavage assay of miR122 demonstrated that three of the DI… (full text at CIViC)

PMID 28862265 · Wu et al., 2018 · Open in CIViC

Analysis of DICER1 mutations in tumor/normal pairs from pediatric patients (7 months to 13 yo) with anaplastic sarcoma of the kidney identified at least 1 RNase IIIb DICER1 mutation in 8 of 9 cases (… (full text at CIViC)

PMID 28862265 · Wu et al., 2018 · 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

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 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

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

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