Nerve Sheath Neoplasm

In a malignant peripheral nerve sheath tumor patient harboring a BRAF V600E mutation, response to vemurafenib monotherapy was reported. Upon identification of the BRAF V600E mutation, the patient was … (full text at CIViC)

PMID 24335681 · Kaplan, 2013 · 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

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

BRD4 inhibition supressess growth and tumorigenesis of NF1-/-, TP53-/- MPNST cells in mouse xenografts

PMID 24373973 · Patel et al., 2014 · 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

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

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

In this study, 141 spindle cell sarcomas were evaluated for the presence of t(X;18) by RT-PCR. 75% of the malignant peripheral nerve sheath tumors (MPNSTs) were positive for this event. The study did … (full text at CIViC)

PMID 11144931 · O'Sullivan et al., 2000 · Open in CIViC

TYK2 protein overexpression was observed in 60% of MPNST cases using an independently generated tissue microarray, regardless of NF1 status. A total of 3 women and 4 men with NF1-MPNST were studied (m… (full text at CIViC)

PMID 27875628 · Hirbe et al., 2017 · Open in CIViC