Glioma

Sequencing (whole genome or exome) was performed on a series of 26 pediatric patients (1.7 to 13.6 years old), 7 had missense mutations in ACVR1. Two patients with G328E mutation were identified. This… (full text at CIViC)

PMID 24705252 · Taylor et al., 2014 · Open in CIViC

In a study sequencing 61 patients (median age 6.3) with diffuse intrinsic pontine glioma (DIPG), 12 variants affecting ACVR1 were observed. Five patients had G328V within the kinase domain. The ACVR1 … (full text at CIViC)

PMID 24705254 · Buczkowicz et al., 2014 · Open in CIViC

It has been reported that recurrent activating somatic mutations (R206H, R258G, G328E/V/W, G356D) in the ACVR1 gene, which encodes a type I activin receptor serine/threonine kinase, are in 21% (11/52)… (full text at CIViC)

PMID 24705252 · Taylor et al., 2014 · Open in CIViC

It has been reported that recurrent activating somatic mutations (R206H, R258G, G328E/V/W, G356D) in the ACVR1 gene, which encodes a type I activin receptor serine/threonine kinase, are in 21% (11/52)… (full text at CIViC)

PMID 24705252 · Taylor et al., 2014 · Open in CIViC

This mutation is found to be present in about 33% of diffuse intrinsic pontine glioma along with 6 other recurrent heterozygous somatic non-synonymous mis-sense mutations in ACVR1. There lacks evidenc… (full text at CIViC)

PMID 26776312 · Pacifici et al., 2016 · Open in CIViC

It has been reported that recurrent activating somatic mutations (R206H, R258G, G328E/V/W, G356D) in the ACVR1 gene, which encodes a type I activin receptor serine/threonine kinase, are in 21% (11/52)… (full text at CIViC)

PMID 24705252 · Taylor et al., 2014 · Open in CIViC

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

Sequencing of 39 pediatric midline high-grade astrocytomas identified 5 patients with ACVR1 mutations. The authors identified an increase in endogenous phospho-SMAD1/5/8 signal in diffuse intrinsic po… (full text at CIViC)

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

Analysis of 127 paediatric high grade gliomas (HGGs) identified recurrent mutations in ACVR1 exclusively in DIPG. ACVR1 mutations were found in 18 of 57 DIPG tumours (32%) and none of 70 non-brainstem… (full text at CIViC)

PMID 24705251 · Wu et al., 2014 · Open in CIViC

It has been reported that recurrent activating somatic mutations (R206H, R258G, G328E/V/W, G356D) in the ACVR1 gene, which encodes a type I activin receptor serine/threonine kinase, are in 21% (11/52)… (full text at CIViC)

PMID 24705252 · Taylor et al., 2014 · Open in CIViC

It has been reported that recurrent activating somatic mutations (R206H, R258G, G328E/V/W, G356D) in the ACVR1 gene, which encodes a type I activin receptor serine/threonine kinase, are in 21% (11/52)… (full text at CIViC)

PMID 24705252 · Taylor et al., 2014 · Open in CIViC

It has been reported that recurrent activating somatic mutations (R206H, R258G, G328E/V/W, G356D) in the ACVR1 gene, which encodes a type I activin receptor serine/threonine kinase, are in 21% (11/52)… (full text at CIViC)

PMID 24705252 · Taylor 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 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

Loss of ATRX was identified in 12 of 247 patients with PLGGs using immunohistochemistry. Survival analysis showed that ATRX loss was associated with adverse overall survival (p<0.0001) and progression… (full text at CIViC)

PMID 29948154 · Yang et al., 2018 · 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 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

Fluorescence in situ hybridization (FISH) studies were performed using home brew probes targeting 3′ BRAF, 5′ BRAF, and a commercial CEP7 probe on 59 patients with optic nerve glioma. Duplication of t… (full text at CIViC)

PMID 22892521 · Rodriguez et al., 2012 · Open in CIViC

Genetic alterations in 96 patients with pilocytic astrocytoma (PA) were evaluated. In addition to KIAA1549-BRAF fusions, other BRAF mutations and fusions were identified. Known MAPK activating events… (full text at CIViC)

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

Pilocytic astrocytoma (PA) is emerging as a tumor entity with dysregulated Ras/Raf/MEK/ERK signaling. The well-known BRAF(V600E) mutation was found in 6/64 (9.38%) of our samples. Furthermore, 2/64 (3… (full text at CIViC)

PMID 21190184 · Eisenhardt et al., 2011 · Open in CIViC

This clinical trial used a cohort of 32 pediatric low grade glioma (pLGG) patients. The primary endpoint of this study was objective response rate (ORR). In this study, an ORR of 44% and a 1-year prog… (full text at CIViC)

PMID 31811016 · Hargrave et al., 2019 · Open in CIViC

Using Sanger sequencing, BRAFV600E mutations were identified in 21 of 285 patients with PLGGs (7.4%). This mutation was enriched in hemispheric tumors (p<0.007) and was associated with shorter progres… (full text at CIViC)

PMID 29948154 · Yang et al., 2018 · Open in CIViC

This study is part of an ongoing open-label, single-arm, phase 2 Rare Oncology Agnostic Research (ROAR) basket trial enlisting 45 patients (31 with glioblastoma) into the high-grade glioma cohort (oth… (full text at CIViC)

PMID 34838156 · Wen et al., 2022 · Open in CIViC