BRAF mutation, TERT promoter mutation, and HER2 amplification in sporadic or neurofibromatosis-related neurofibromas and malignant peripheral nerve sheath tumors: do these molecules have a signature in malignant transformation?

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dc.authoridKantarcioglu Coskun, Sinem/0000-0002-8133-8665
dc.authoridYILMAZ, ISMAIL/0000-0003-2163-1795
dc.authorwosidGamsizkan, Mehmet/AAM-9833-2020
dc.authorwosidYalcinkaya, Ulviye/AAH-8924-2021
dc.contributor.authorCoskun, Sinem
dc.contributor.authorGamsizkan, Mehmet
dc.contributor.authorYilmaz, Ismail
dc.contributor.authorYalcinkaya, Ulviye
dc.contributor.authorSungur, Mehmet Ali
dc.contributor.authorBuyucek, Seyma
dc.contributor.authorOnal, Binnur
dc.date.accessioned2021-12-01T18:49:02Z
dc.date.available2021-12-01T18:49:02Z
dc.date.issued2020
dc.department[Belirlenecek]en_US
dc.description.abstractPeripheral nerve sheath tumors may occur sporadically or related to neurofibromatosis (NF). Unless the mechanisms of tumorigenesis in NF related malignant peripheral nerve sheath tumors (MPNST) are better understood, it remained unclear in sporadic cases. We aimed to investigate the genetic route for malignancy in both individuals with NF-1 and sporadic ones to open a way for targeted therapies in the future. We investigated the role of HER2 with Dual ISH DNA Probe Cocktail test, BRAF mutation (exon 15) and TERT promoter mutation frequency with Sanger sequencing method in respectively 25 sporadic neurofibromas, 25 NF-1 related neurofibromas and 25 MPNST cases from two institutes. Categorical data were analyzed and summarized as frequency and percentage. Statistical analysis was done with SPSS v.22 statistical package, and the statistical significance level was considered as 0.05. We identified TERT promoter mutation only in one sporadic MPNST (4%) and no BRAF mutation in any case. HER2 amplification is found in 10/25 (40%) MPNST cases. No mutations or gene amplification detected in neurofibromas (p < 0.001). MPNSTs are sarcomas with poor prognosis and limited treatment options. TERT promoter mutations and HER2 amplification may play a putative role in therapeutic purposes.en_US
dc.description.sponsorshipBAP unit (Scientific Research Projects) of Duzce UniversityDuzce Universityen_US
dc.description.sponsorshipThis study is supported financially by BAP unit (Scientific Research Projects) of Duzce University.en_US
dc.identifier.doi10.1111/apm.13063
dc.identifier.endpage522en_US
dc.identifier.issn0903-4641
dc.identifier.issn1600-0463
dc.identifier.issue9en_US
dc.identifier.pmid32580246en_US
dc.identifier.scopus2-s2.0-85088702178en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage515en_US
dc.identifier.urihttps://doi.org/10.1111/apm.13063
dc.identifier.urihttps://hdl.handle.net/20.500.12684/10653
dc.identifier.volume128en_US
dc.identifier.wosWOS:000553220700001en_US
dc.identifier.wosqualityQ2en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakPubMeden_US
dc.indekslendigikaynakScopusen_US
dc.language.isoenen_US
dc.publisherWileyen_US
dc.relation.ispartofApmisen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectBRAFen_US
dc.subjectHER2en_US
dc.subjectTERTen_US
dc.subjectmalignant peripheral nerve sheath tumorsen_US
dc.subjectneurofibromatosis type 1en_US
dc.subjectExpressionen_US
dc.titleBRAF mutation, TERT promoter mutation, and HER2 amplification in sporadic or neurofibromatosis-related neurofibromas and malignant peripheral nerve sheath tumors: do these molecules have a signature in malignant transformation?en_US
dc.typeArticleen_US

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