Nervous System Neoplasm

A comprehensive genomic analysis was conducted on 172 cases of pediatric low-grade gliomas (PLGGs) across various histologic subtypes, utilizing whole-genome sequencing (WGS) and/or RNA sequencing. Th… (full text at CIViC)

PMID 26829751 · Bandopadhayay et al., 2016 · Open in CIViC

The study compiled clinicopathologic and molecular features of 46 gliomas with a MYB or MYBL1 alteration diagnosed at a single center. The tumors showed low-grade histopathologic features and were bro… (full text at CIViC)

PMID 31595312 · Chiang et al., 2019 · Open in CIViC

Comprehensive molecular studies through whole genome, whole exome, transcriptome sequencing, genome-wide copy number analysis, clustering analysis by DNA methylation profiling, as well as mutation hot… (full text at CIViC)

PMID 26810070 · Qaddoumi et al., 2016 · Open in CIViC

Comprehensive molecular studies (through whole genome, whole exome, transcriptome sequencing, genome-wide copy number analysis, clustering analysis by DNA methylation profiling, mutation hotspot analy… (full text at CIViC)

PMID 26810070 · Qaddoumi et al., 2016 · Open in CIViC

The study compiled the clinicopathologic and molecular features of 46 gliomas with a MYB or MYBL1 alteration diagnosed at a single center. The tumors showed low-grade histopathologic features and were… (full text at CIViC)

PMID 31595312 · Chiang et al., 2019 · Open in CIViC

A research study performed in 2010 involved 57 pediatric low-grade gliomas (LGGs) and a comparison group of 59 pediatric high-grade gliomas (HGGs). Among the LGG group, there were 34 cases of pilocyti… (full text at CIViC)

PMID 21046410 · Tatevossian et al., 2010 · Open in CIViC

Group 3 medulloblastomas with MYC amplifications are often associated with large cell/anaplastic histology, young patients, and overall poor prognosis.

PMID 15328187 · Lamont et al., 2004 · Open in CIViC

In a cohort of 1596 diagnostic tumor samples taken from patients enrolled in the Children's oncology group (COG) neuroblastoma biology protocol ANBL00B1, 1579 samples were annotated with MYCN amplific… (full text at CIViC)

PMID 25517749 · Bresler et al., 2014 · Open in CIViC

In a patient derived xenograft from a sonic hedgehog driven medulloblastoma patient, MYCN amplification conferred to resistance to SMO inhibition with Sonidegib. This PDX was shown to be responsive t… (full text at CIViC)

PMID 23291299 · Kim et al., 2013 · Open in CIViC

In a Children's Oncology Group correlative study, 242 pretherapy tumours from patients enrolled on the phase III high-risk neuroblastoma trial ANBL0532 (NCT00567567) underwent ultra-deep targeted sequ… (full text at CIViC)

PMID 40036726 · Berko et al., 2025 · Open in CIViC

A preclinical study investigated the sensitivity of PARP inhibitors in Neuroblastoma with MYCN-amplified (IMR-32) cells and found a decrease in cellular viability in comparison to the non-MYCN amplifi… (full text at CIViC)

PMID 32577161 · King et al., 2020 · Open in CIViC

A 14.6-year-old male [ID: 6] with a family history of neurofibromatosis type 1 (NF1) affecting both parents and a sibling. The patient was asymptomatic at diagnosis, and a biopsy of the left frontal g… (full text at CIViC)

PMID 35945463 · Lucas et al., 2022 · Open in CIViC

Low NF1 protein expression correlated positively with responses to binimetinib in neuroblastoma cell lines.

PMID 26925841 · Woodfield et al., 2016 · Open in CIViC

Sporadic and Neurofibromatosis Type 1 (NF1) related refractory Malignant Peripheral Nerve Sheath Tumors (MPNST) showed no significant clinical benefit when treated with Everolimus in Combination with … (full text at CIViC)

PMID 31427883 · Widemann et al., 2019 · Open in CIViC

This study reported 47 neurofibromatosis type 1 (NF1) patients with biallelic inactivation of NF1 genes were detected in all glial tumors. Targeted capture-based next-generation sequencing (479 cancer… (full text at CIViC)

PMID 35945463 · Lucas et al., 2022 · Open in CIViC

In a pediatric phase 2 trial of the MEK inhibitor selumetinib (NCT01362803), partial responses were seen in 70% (35 of 50) children with neurofibromatosis type 1 and symptomatic inoperable plexiform n… (full text at CIViC)

PMID 32187457 · Gross et al., 2020 · Open in CIViC

This study reported 47 neurofibromatosis type 1 (NF1) patients with biallelic inactivation of NF1 genes were detected in all glial tumors. Targeted capture-based next-generation sequencing (479 cancer… (full text at CIViC)

PMID 35945463 · Lucas et al., 2022 · Open in CIViC

This study reported 47 neurofibromatosis type 1 (NF1) patients with biallelic inactivation of NF1 genes were detected in all glial tumors. Targeted capture-based next-generation sequencing (479 cancer… (full text at CIViC)

PMID 35945463 · Lucas et al., 2022 · Open in CIViC

This study reported 47 neurofibromatosis type 1 (NF1) patients with biallelic inactivation of NF1 genes were detected in all glial tumors. Targeted capture-based next-generation sequencing (479 cancer… (full text at CIViC)

PMID 35945463 · Lucas et al., 2022 · Open in CIViC

This study reported 47 neurofibromatosis type 1 (NF1) patients with biallelic inactivation of NF1 genes were detected in all glial tumors. Targeted capture-based next-generation sequencing (479 cancer… (full text at CIViC)

PMID 35945463 · Lucas et al., 2022 · Open in CIViC

This study reported 47 neurofibromatosis type 1 (NF1) patients with biallelic inactivation of NF1 genes were detected in all glial tumors. Targeted capture-based next-generation sequencing (479 cancer… (full text at CIViC)

PMID 35945463 · Lucas et al., 2022 · Open in CIViC

Single strand conformation polymorphism and sequencing was used on human tumors to determine tumor NF2 genotype. This is a nonsense mutation.

PMID 10433955 · Ebert et al., 1999 · Open in CIViC

Blood or tumor specimens of 37 unrelated adult patients with ependymomas related to neurofibromatosis Type 2 (NF2) underwent sequencing of the NF2 gene to reveal germline variants. Overall, 64% were f… (full text at CIViC)

PMID 21294614 · Plotkin et al., 2011 · Open in CIViC

Ten patients with Neurofibromatosis 2 were enrolled for treatment with Everolimus. At 12 months, no patients had reduction in tumor volume >20%, however, five patients had stable disease with a reduc… (full text at CIViC)

PMID 25567352 · Goutagny et al., 2015 · Open in CIViC

RNAseq data of 162 glioblastoma patients identified NTRK1 fusions with both NFASC and BCABN. By analyzing exome and RNA data, the NFASC-NTRK1 fusion was found to retain NTRK1's kinase and transmembran… (full text at CIViC)

PMID 24647444 · Kim et al., 2014 · Open in CIViC

In-vitro study in 5 neuroblastoma cell lines (2 with NRAS Q61K mutation). The combination of mTOR and MEK Inhibitors synergistically blocked cell growth in NRAS mutant but not wild type cell lines. Si… (full text at CIViC)

PMID 26821351 · Kiessling et al., 2016 · Open in CIViC

A high level of expression of the TRK proto-oncogene in a neuroblastoma is strongly predictive of a favorable outcome. A tumor with a functional nerve growth factor receptor may be dependent on the ne… (full text at CIViC)

PMID 8441429 · Nakagawara et al., 1993 · Open in CIViC

Patients with tumors expressing high levels of trkC mRNA had significantly longer intervals without disease progression than those with low levels (log-rank, P = 0.03) and a more favorable overall sur… (full text at CIViC)

PMID 7809137 · Segal et al., 1994 · Open in CIViC

The majority of MPNST samples were positive for PARP staining. Overall, moderate to high expression of PARP1 and PARP2 was observed (Table 1)....Overall, treatment continued for 60 d at which point 5 … (full text at CIViC)

PMID 26650448 · Kivlin et al., 2016 · 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

The paper showed that PCNA (p.K164R) inhibits the ubiquitination of PCNA and the variant can render cells sensitive to DNA-damaging agents and reduce activation-induced single-nucleotide substitutions… (full text at CIViC)

PMID 17105346 · Arakawa et al., 2006 · Open in CIViC

Mutations at codon K385 are specific to glial and glioneuronal tumors. In addition, tumors with these mutations do not typically have other pathogenic mutations in other typical brain-cancer-associate… (full text at CIViC)

PMID 30006677 · Solomon et al., 2018 · Open in CIViC

PDGFRA K385L (6) or K385I (2) mutations were identified as the sole somatic pathogenic alteration in 8 patients with low-grade glioneuronal tumors; furthering defining "Myxoid glioneuronal tumor, PDGF… (full text at CIViC)

PMID 31609499 · Lucas et al., 2020 · Open in CIViC

Tumor cell line generated from pediatric high-grade glioma patient was found to have amplification of PDGFRA and FGF2. Gene expression of PDGFRA and FGF2 was found to be in the 99th percentile compare… (full text at CIViC)

PMID 27582545 · Koschmann et al., 2016 · Open in CIViC