Malignant 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

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

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

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

Across a multicenter cohort of CNS embryonal tumors (n = 9), recurrent BRD4::LEUTX fusions were identified by RNA sequencing, with all cases retaining LEUTX exon 2 and variable BRD4 breakpoints (exons… (full text at CIViC)

PMID 38500181 · Andreiuolo et al., 2024 · Open in CIViC

Predominantly high-level expression of BRD4 was found in the majority of medulloblastoma cell lines examined (HD-MB3, ONS-76, UW-228, D-341, and D-283); the exception being the Daoy cell line exhibiti… (full text at CIViC)

PMID 24231268 · Henssen et al., 2013 · Open in CIViC

This landmark study contributed to the recognition of embryonal tumor with multilayered rosettes (ETMRs) as a distinct entity in the 2016 WHO classification. Previously, ETMRs were included within the… (full text at CIViC)

PMID 19962671 · Li et al., 2009 · Open in CIViC

This study aimed to identify the mechanism underlying overexpression of a miRNA cluster on chromosome 19q13.4 (C19MC) and its oncogenicity in embryonal tumors with multilayered rosettes (ETMRs). Throu… (full text at CIViC)

PMID 24316981 · Kleinman et al., 2014 · Open in CIViC

This cohort study examined the molecular landscape of embryonal tumors with multilayered rosettes (ETMRs) at diagnosis and relapse. ETMRs have previously been shown to frequently (~90%) exhibit amplif… (full text at CIViC)

PMID 31802000 · Lambo et al., 2019 · 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

This study examined two CDKN1A polymorphisms (rs1801270 and rs1059234) in 141 carriers of RB1 variants and 120 unrelated healthy individuals. Authors found that RB1 carriers were more likely to have t… (full text at CIViC)

PMID 24045412 · Carvalho et al., 2013 · Open in CIViC

This study examined two CDKN1A polymorphisms (rs1801270 and rs1059234) in 141 carriers of RB1 variants and 120 unrelated healthy individuals. Authors found that RB1 carriers were more likely to have t… (full text at CIViC)

PMID 24045412 · Carvalho et al., 2013 · Open in CIViC

This study examined two CDKN1A polymorphisms (rs1801270 and rs1059234) in 141 carriers of RB1 variants and 120 unrelated healthy individuals. Authors found the chance of developing retinoblastoma incr… (full text at CIViC)

PMID 24045412 · Carvalho et al., 2013 · Open in CIViC

In a series of 54 supratentorial ependymomas with ZFTA::RELA fusions (termed fusions between C11orf95 and RELA at time of publication), homozygous deletion of CDKN2A was found in 9 cases and hemizygou… (full text at CIViC)

PMID 32514758 · Jünger et al., 2020 · 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

This is a report about CIC-LEUTX gene fusion (CIC exon 20 to LEUTX exon 3 ) in a CNS embryonal tumor from a 2-year-old male, and the report also reviewed the clinical and pathological features of 3 ot… (full text at CIViC)

PMID 33344249 · Hu et al., 2020 · 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

A retrospective study evaluated 72 pediatric medulloblastoma patients for CTNNB1 mutations (by direct sequencing), copy number alterations (by array-comparative genomic hybridization), and beta-cateni… (full text at CIViC)

PMID 19197950 · Fattet et al., 2009 · Open in CIViC