Primary Central Nervous System Neoplasm

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

This retrospective study analyzed the role of ASCL1 expression in the overall prognosis of patients with atypical teratoid rhabdoid tumors. ASCL1 expression was found to correlate with superior 5-year… (full text at CIViC)

PMID 25882982 · Torchia et al., 2015 · 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

Jadun et al. reported an adolescent girl with a skull-base meningothelial meningioma, WHO grade 1. Initial germline testing of NF2, LZTR1, and SMARCB1 was negative. Subsequent paired tumor-normal geno… (full text at CIViC)

PMID 41442315 · Jadun et al., 2026 · Open in CIViC

The authors generated genome-wide DNA methylation profiles of 323 tumors with an institutional diagnosis of ‘primitive neuroectodermal tumors of the central nervous system (CNS-PNETs)’, which are hi… (full text at CIViC)

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

10/323 studied high-grade primitive neuroectodermal tumors of the central nervous system (CNS-HGPNETs) clustered together based on their unique methylation profile. 10/10 of those tumors exhibited in… (full text at CIViC)

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

In the STARTRK-NG (NCT02650401) phase 1/2 trial, a 10 year old patient with prior chemotherapy treatment who had Ganglioglioma in the Spine, with a tumor category of low grade glioma, and WHO histolog… (full text at CIViC)

PMID 35395680 · Desai et al., 2022 · 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 an 11-year-old female presenting with seizures, a mixed MVNT with a ganglioglioma-like component located in the left temporal lobe revealed a BRAF p.G469S mutation (NM_004333.6:c.1405_1406delinsTC;… (full text at CIViC)

PMID 29428973 · Pekmezci et al., 2018 · 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

In a 54-year-old female with chronic headache and a right temporal lobe MVNT, NGS (479-gene panel) identified a BRAF p.L597R mutation (NM_004333.6:c.1790T>G; VAF 5%).

PMID 29428973 · Pekmezci et al., 2018 · Open in CIViC

Eight MVNT cases (6 pure MVNT and 2 with ganglioglioma-like features) were examined, comprising 4 males and 4 females aged 11–63 years (median 39). Tumors were localized to the temporal lobe (n=7) or … (full text at CIViC)

PMID 29428973 · Pekmezci et al., 2018 · 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

A pediatric case of ganglioglioma was previously reported (PMID: 29434027) to harbor a BRAF p.T599dup variant (observed at VAF of 5.2%). The patient had a partial resection and was then treated with V… (full text at CIViC)

PMID 33637608 · Miller et al., 2021 · 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