Primary Central Nervous System Neoplasm

In this trial, patients with pediatric (age <18 years) low-grade gliomas harbouring BRAF V600E (n=49), were treated with either trametinib monotherapy (n=13) or dabrafenib + trametinib (n=36). In pati… (full text at CIViC)

PMID 36375115 · Bouffet et al., 2023 · Open in CIViC

In this trial, 19 patients with pediatric brain tumours (1 patient with Astrocytoma, 1 with Fibrillary Astrocytoma, 10 with Pilocytic Astrocytoma, 5 with Ganglioglioma and 2 with Pleomorphic Xanthoast… (full text at CIViC)

PMID 32523649 · Nicolaides et al., 2020 · Open in CIViC

A study of pediatric malignant astrocytomas found that tumors with BRAF V600E mutations also had homozygous deletions of CDKN2A more frequently than those with wildtype BRAF (71% vs. 8% , P=0.0016, F… (full text at CIViC)

PMID 20068183 · Schiffman et al., 2010 · Open in CIViC

In a study of pilocytic astrocytomas, presence of the BRAF V600E mutation was more frequently detected in extra-cerebellar pilocytic astrocytomas than cerebellar ones (20% vs. 2% , P=0.009, Fisher�s… (full text at CIViC)

PMID 21274720 · Schindler et al., 2011 · Open in CIViC

In a study of low grade pediatric gliomas, 19 of 157 tumors had a BRAF V600E mutation. Tumors located in the cerebrum had a higher frequency of BRAF mutations than those in the cerebellum or midline (… (full text at CIViC)

PMID 22492957 · Horbinski et al., 2012 · Open in CIViC

In a case report, a 28 month old patient with a cervicomedullary low grade glioma compatible with pilocytic astrocytoma which was resected had a second lesion consistent with a ganglioglioma 3 years l… (full text at CIViC)

PMID 25524464 · del Bufalo et al., 2014 · Open in CIViC

In an open-label phase II Pediatric MATCH subprotocol of vemurafenib for relapsed or refractory solid tumors with BRAF V600 mutations (NCT03220035; n = 4 evaluable), all four treated patients carried … (full text at CIViC)

PMID 38873934 · Nelson et al., 2024 · 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

A pediatric pilocytic astrocytoma patient harboring BRAF V600E mutation, BRAF V600E mutation was associated with response to vemurafenib monotherapy. The patient was treated with standard chemotherapy… (full text at CIViC)

PMID 24821190 · Skrypek et al., 2014 · Open in CIViC

A grade I refractory brainstem ganglioglioma patient harboring BRAF V600E mutation was associated with partial response to vemurafenib monotherapy. The patient experienced significant clinical improve… (full text at CIViC)

PMID 26579623 · Aguilera et al., 2016 · Open in CIViC

An anaplastic pleomorphic xanthoastrocytoma patient harboring BRAF V600E mutation was associated with improved response to vemurafenib treatment. The patient was treated with radiation and temozolomid… (full text at CIViC)

PMID 25092772 · Lee et al., 2016 · Open in CIViC

In a mouse xenograft model, tumors derived from the glioblastoma cell line AM-38 that were treated with vemurafenib had reduced tumor growth and improved survival compared to control treated mice (P=0… (full text at CIViC)

PMID 22038996 · Nicolaides et al., 2011 · Open in CIViC

In this case study, a 32-year-old man, previously fit and well, presented with a two-month history of vertigo, right visual disturbance, dysphagia, and ataxia. Brain MRI revealed a large mixed solid a… (full text at CIViC)

PMID 31985841 · Yau et al., 2020 · Open in CIViC

In this case study, a 28-year-old male with BRAF V600E-mutant anaplastic ganglioglioma was started with vemurafenib at 960 mg twice daily in March 2015 for tumour recurrence despite one surgical resec… (full text at CIViC)

PMID 30120137 · Touat et al., 2018 · Open in CIViC

In this phase II trial on patients with pediatric low-grade glioma were assigned to six unique strata according to histology, tumour location, NF1 status, and BRAF aberration status. This study report… (full text at CIViC)

PMID 31151904 · Fangusaro et al., 2019 · Open in CIViC

In this ongoing phase 2 trial (FIREFLY-1), 76 patients, aged 6 months to 25 years, with pediatric low-grade glioma harbouring BRAF alterations (BRAF fusions or BRAF V600E mutations) were treated with … (full text at CIViC)

PMID 37978284 · Kilburn et al., 2024 · Open in CIViC

In this phase 2 clinical trial, the efficacy of RAF inhibitor tovorafenib (DAY-101) was investigated in patients between the ages of 6 months and 25 years, with pediatric low-grade gliomas harbouring … (full text at CIViC)

PMID 37978284 · Kilburn et al., 2024 · 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

The expression of CTGF (CCN2) is significantly higher in TCGA LGG and GBM cohorts compared to non-tumour tissue (P<0.05). Levels of CTGF mRNA and protein were found to be higher in glioma than non-tum… (full text at CIViC)

PMID 32197031 · Song 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

CDKN2A deletion was identified in 24 of 273 patients with PLGGs using FISH analysis. An association between this alteration and BRAFV600E was detected (p=0.0001). Hemispheric tumors with CDKN2A deleti… (full text at CIViC)

PMID 29948154 · Yang et al., 2018 · 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

In a study of 109 pediatric medulloblastomas, children with medulloblastomas that showed a nucleopositive beta-catenin immunophenotype (27 of 109; 25%) had significantly better overall (OS) and event-… (full text at CIViC)

PMID 16258095 · Ellison et al., 2005 · Open in CIViC

A total of 51 medulloblastomas from two independent cohorts (19 and 32 cases) were assessed for evidence of Wnt/Wg pathway activation, alongside a genome-wide analysis of associated copy-number aberra… (full text at CIViC)

PMID 17172831 · Clifford et al., 2006 · 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

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

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

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

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

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 (3 yo) with … (full text at CIViC)

PMID 35395680 · Desai et al., 2022 · Open in CIViC

In an in vitro study, a Ba/F3 cell line expressing EGFR A289V 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

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