Nervous System Neoplasm

An MRI of 26-year-old man presenting with motor weakness and language difficultly revealed a lesion in the left frontal lobe that extended across the corpus callosum. Histologic analysis of the biopsy… (full text at CIViC)

PMID 34041811 · Shepherd et al., 2021 · Open in CIViC

Genetic alterations in pilocytic astrocytoma (PA) were evaluated. Whole-genome sequencing of normal (blood) and tumor samples (n=96) was performed along with corresponding RNA-Seq (n=73) and mate-pair… (full text at CIViC)

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

KIAA1549-BRAF fusion was identified in 87 of 272 patients with PLGGs using Fluorescence In situ hybridization (FISH) analysis. This mutation was strongly associated with a greater progression-free sur… (full text at CIViC)

PMID 29948154 · Yang et al., 2018 · 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

Phase II trial of sunitinib in 40 patients with first recurrence of primary glioblastoma. Median PFS 2.2 mo, median OS 9.2 mo, 5 stable disease >=6 months, no objective responses, so primary study end… (full text at CIViC)

PMID 24311637 · Hutterer et al., 2014 · Open in CIViC

Genetic alterations in 96 patients with pilocytic astrocytoma (PA) were evaluated. Two new alterations with double KRAS mutations (p.[Glu63Lys]+[Arg73Met] and p.[Leu19Phe]+[Gln22Lys] ) were observed.

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

144 cases (discovery set: N=62 discovery; Independent validation set: N = 82) of meningiomas were analyzed for transcriptional features defining aggressive clinical course (recurrent, malignantly prog… (full text at CIViC)

PMID 26894859 · Schmidt et al., 2016 · Open in CIViC

A retrospective study of 178 glioblastoma patients found that LRP1B deletion (complete transcript, N=4 or focal transcript deletion of >150kb, N=13) was associated with a lower progress free survival … (full text at CIViC)

PMID 26428308 · Tabouret et al., 2015 · Open in CIViC

Germline loss-of-function mutations in LZTR1 is a SMARCB1-independent predisposing factor that leads to Schwannomatosis, a late-onset tumor predisposition disorder.

PMID 24362817 · Piotrowski et al., 2014 · Open in CIViC

A 43-year-old male with chronic headache was found to have a left frontal multinodular and vacuolating neuronal tumor (MVNT). NGS targeting 479 cancer-associated genes identified a MAP2K1 in-frame ind… (full text at CIViC)

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

NGS targeting 479 cancer-associated genes were performed on two MVNT cases: a 63-year-old female with left-hand paresthesia and a 54-year-old male with long-standing epilepsy, both located in the righ… (full text at CIViC)

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

Through the analysis of 10 patient-derived glioblastoma cells, AMG232 was found to have increased sensitivity in comparison to RG7112 with the average IC50 of 76nM vs. 720nM; thus indicating a 9.5 fol… (full text at CIViC)

PMID 30022047 · Her et al., 2018 · Open in CIViC

A 62 year old female was diagnosed with glioblastoma (GBM) WHO grade 4. Treatment included radiation, temozolomide and cediranib. MET amplification was found by FISH, and ALK and MET inhibitor crizoti… (full text at CIViC)

PMID 22162573 · Chi et al., 2012 · Open in CIViC

An international multi-institutional study identified108 patients with a methylation profile of supratentorial ependymoma, ZFTA fusion-positive, by whole genome DNA methylation profiling. The study fo… (full text at CIViC)

PMID 37287693 · Ng et al., 2023 · Open in CIViC

In a series of 54 cases of ependymoma diagnosed in children </= 3 years, methylation profiling of all tumours was undertaken as part of a prospective clinical trial (SJYC07 - maximal safe surgical res… (full text at CIViC)

PMID 30976811 · Upadhyaya et al., 2019 · Open in CIViC

In a trial of 68 glioblastoma patients treated with either temozolomide or semustine, MGMT expression was found to be inversely correlated with survival. Patients in the MGMT high expression group (n=… (full text at CIViC)

PMID 24248532 · Wang et al., 2014 · Open in CIViC

In patients with glioblastoma, those with methylated MGMT promoters have better overall survival than those with unmethylated promoters.

PMID 15758010 · Hegi et al., 2005 · Open in CIViC

MGMT promoter methylation was associated with increased overall and disease-free survival as well as tumor regression in patients with gliomas.

PMID 11070098 · Esteller et al., 2000 · Open in CIViC

The T allele of the rs16906252 SNP was associated with MGMT methylation and low protein expression. Germline presence of the T allele increased the risk of glioblastoma development (adjusted odds rati… (full text at CIViC)

PMID 25910840 · Rapkins et al., 2015 · Open in CIViC

In this study, patients with low MGMT expression, compared with patients with high MGMT expression, had a significantly higher response rate (55% v 7%, respectively; P = .004) and improved PFS (median… (full text at CIViC)

PMID 17442989 · Chinot et al., 2007 · Open in CIViC

This study showed that low MGMT mRNA expression was strongly predictive for prolonged time to progression, treatment response, and length of survival in univariate and multivariate models (p<0.0001). … (full text at CIViC)

PMID 21365007 · Kreth et al., 2011 · Open in CIViC

High expression of miR-21 was shown to be associated with worse OS (p<0.001) and PFS (p<0.001) in a Kaplan-Meier analysis of TCGA glioma dataset (n=641). Multivariate Cox regression analysis also show… (full text at CIViC)

PMID 32144351 · Jiang et al., 2020 · Open in CIViC

The expression of a set of miRNAs was evaluated by qRT-PCR in 124 astrocytoma (grade I-IV) samples and 60 adjacent normal tissue samples in order to determine miRNAs with altered expression in astrocy… (full text at CIViC)

PMID 20219352 · Zhi et al., 2010 · Open in CIViC

The authors studied tumors carrying a diagnosis of CNS primitive neuroectodermal tumors (PNETs). They identified four novel DNA methylation-defined brain tumor groups. One group, designated high-grade… (full text at CIViC)

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

In a clinicopathologic and molecular series of astroblastoma (n = 8; biomarker MN1 rearrangement; primary endpoint diagnostic detection), MN1 break-apart FISH identified rearrangements in all informat… (full text at CIViC)

PMID 28990708 · Hirose et al., 2018 · Open in CIViC

10 of 27 cases of histologically defined astroblastomas studied demonstrated an inferred MN1 rearrangement by break-apart FISH testing. Of these, all eight cases with material available for methylati… (full text at CIViC)

PMID 30876455 · Lehman et al., 2019 · Open in CIViC

In an analysis of 27 histologically defined astroblastomas, 10 had MN1 rearrangements, 7 had BRAF p.V600E mutations, 2 had RELA rearrangements, and 8 had none of these drivers identified. Astroblasto… (full text at CIViC)

PMID 30876455 · Lehman et al., 2019 · Open in CIViC

In an analysis of 13 cases of supratentorial tumors with ZFTA rearrangements without RELA involvement, all were found to have DNA methylation profiles similar to ZFTA::RELA supratentorial ependymoma. … (full text at CIViC)

PMID 34389065 · Tauziède-Espariat et al., 2021 · Open in CIViC

MYB amplification was detected in 28 of 263 patients with PLGGs using Fluorescence In situ hybridization (FISH) analysis. The amplification of MYB was strongly associated with greater progression-free… (full text at CIViC)

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

Histological, molecular, and clinical analysis of 26 histologically prototypical isomorphic diffuse gliomas with a specific DNA methylation profile distinct from other glial/glio-neuronal brain tumors… (full text at CIViC)

PMID 31563982 · Wefers et al., 2020 · Open in CIViC

Copy-number analysis was performed on 44 diffuse pediatric low-grade gliomas (PLGGs) to identify recurrent alterations. The most significant event, focal 8q13.1 gain, was observed in 28% (5/18) of dif… (full text at CIViC)

PMID 23633565 · Ramkissoon et al., 2013 · Open in CIViC