Benign Nervous System Neoplasm

Assessment of beta-catenin mutations in a large collections of pituitary adenomas (n=60) and craniopharynangiomas (n=41), identified CTNNB1 exon 3 mutations in 77% of craniopharynangiomas, all of the … (full text at CIViC)

PMID 15891929 · Buslei et al., 2005 · Open in CIViC

Whole-exome sequencing identified CTNNB1 mutations in 11 of 12 (92%) of adamantinomatous craniopharyngiomas examined. No other recurrent mutations or genomic aberrations were identified. Targeted se… (full text at CIViC)

PMID 24413733 · Brastianos et al., 2014 · Open in CIViC

CTNNB1 sequencing a cohort of 80 adamantinomatous craniopharyngiomas and 35 papillary craniopharyngiomas identified CTNNB1 activating mutations exclusively in the adamantinomatous subtype (in 79 or 8… (full text at CIViC)

PMID 26927026 · Hölsken et al., 2016 · 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 12-year-old child with Neurofibromatosis 1 (NF1) with multiple cutaneous and paraspinal neurofibromas responsible for impaired walking, motor deficiency and pain. A treatment with Trametinib was ini… (full text at CIViC)

PMID 30174724 · Papalia et al., 2018 · 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

Treatment with selumetinib (NCT01362803) resulted in confirmed partial, long term responses in 17 of the 24 children with NF1 associated plexiform fibromas (71%) and decreases from baseline in neurofi… (full text at CIViC)

PMID 28029918 · Dombi et al., 2016 · 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

This study evaluates the genetic features of melanotic schwannoma (MS). Twelve cases of MS were examined. A hybrid capture-based next-generation sequencing (NGS) assay screened the coding exons for mu… (full text at CIViC)

PMID 26031761 · Wang et al., 2015 · Open in CIViC

RT-PCR in 215 cases of Schwannomas in a diverse cohort resulted in 29 out of 215 harboring SH3PXD2A::HTRA1 fusion (in-frame fusion between SH3PXD2A (exon 6) and HTRA1 (exon 2)). Histological analysis … (full text at CIViC)

PMID 38219951 · Lee et al., 2024 · Open in CIViC

This study described the genomic landscape of sporadic schwannomas. Among the 125 cases, 12 (10%) of them were identified to bear in-frame SH3PXD2A-HTRA1 fusion with RNA-seq. The fusion was found to b… (full text at CIViC)

PMID 27723760 · Agnihotri et al., 2016 · Open in CIViC