Peripheral Nervous System 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

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

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

Thirty-nine cases of sporadic or familial pheo/PGL and pituitary adenomas (PA) were investigated. Known pheo/PGL genes (SDHA-D, SDHAF2, RET, VHL, TMEM127, MAX, FH) and pituitary adenoma genes (MEN1, A… (full text at CIViC)

PMID 25494863 · Dénes et al., 2015 · Open in CIViC

A germline SDHB c.314T>A variant was found in a 37 year old man with metastatic sympathetic abdominal paraganglioma. The variant was originally classified as a VUS. The loss of SDHB expression on the … (full text at CIViC)

PMID 40213107 · Bernardi et al., 2025 · Open in CIViC

An in-frame duplication of 12 nucleotides resulting in the insertion of 4 amino acids within exon 6 of the SDHB gene was found in a single female case (a 13-year-old) with confirmed paraganglioma. The… (full text at CIViC)

PMID 20193854 · Musil et al., 2010 · 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

Screening of 68 patients, who had been operated on for apparently sporadic pheochromocytomas, for germline mutations in the VHL gene. This missense mutation was found in a 51 year-old female with unil… (full text at CIViC)

PMID 9663592 · van der Harst et al., 1998 · Open in CIViC

Screening of 68 patients, who had been operated on for apparently sporadic pheochromocytomas, for germline mutations in the VHL gene. This missense mutation was found in a 72 year-old female with unil… (full text at CIViC)

PMID 9663592 · van der Harst et al., 1998 · Open in CIViC

Screening of 68 patients, who had been operated on for apparently sporadic pheochromocytomas, for germline mutations in the VHL gene. This missense mutation was found in a 35 year-old male with unilat… (full text at CIViC)

PMID 9663592 · van der Harst et al., 1998 · Open in CIViC

A case report of a 70Y female NF1 patient was diagnosed with an isolated pheochromocytoma, hyperparathyroidism and medullary thyroid cancer. Molecular screening for germline mutations of the genes NF1… (full text at CIViC)

PMID 19558618 · Gkaliagkousi et al., 2009 · Open in CIViC

Screening of 68 patients, who had been operated on for apparently sporadic pheochromocytomas, for germline mutations in the VHL gene. This splice variant causes a premature stop codon at amino acid 66… (full text at CIViC)

PMID 9663592 · van der Harst et al., 1998 · Open in CIViC

Frequency of VHL, RET, SDHD, SDHC, and SDHB germline mutations in 21 patients clinically classified as having apparently sporadic pheochromocytomas or paragangliomas was assessed. Germline variations … (full text at CIViC)

PMID 12807974 · Bauters et al., 2003 · Open in CIViC