{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,14]],"date-time":"2026-08-14T13:55:19Z","timestamp":1786715719169,"version":"build-2736575974"},"reference-count":27,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2020,7,29]],"date-time":"2020-07-29T00:00:00Z","timestamp":1595980800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["APMIS"],"published-print":{"date-parts":[[2020,9]]},"abstract":"<jats:p>Peripheral 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\u20101 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\u20101 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 &lt; 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.<\/jats:p>","DOI":"10.1111\/apm.13063","type":"journal-article","created":{"date-parts":[[2020,6,24]],"date-time":"2020-06-24T21:07:10Z","timestamp":1593032830000},"page":"515-522","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["BRAF mutation, TERT promoter mutation, and HER2 amplification in sporadic or neurofibromatosis\u2010related neurofibromas and malignant peripheral nerve sheath tumors: do these molecules have a signature in malignant transformation?"],"prefix":"10.1111","volume":"128","author":[{"given":"Sinem","family":"Coskun","sequence":"first","affiliation":[{"name":"Department of Pathology and Cytology School of Medicine Duzce University Duzce Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mehmet","family":"Gamsizkan","sequence":"additional","affiliation":[{"name":"Department of Pathology and Cytology School of Medicine Duzce University Duzce Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ismail","family":"Yilmaz","sequence":"additional","affiliation":[{"name":"Department of Pathology School of Medicine Istanbul Sultan Abdulhamid Khan Training and Research Hospital Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulviye","family":"Yalcinkaya","sequence":"additional","affiliation":[{"name":"Department of Pathology School of Medicine Uludag University Bursa Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mehmet Ali","family":"Sungur","sequence":"additional","affiliation":[{"name":"Department of Statistics School of Medicine Duzce University Duzce Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seyma","family":"Buyucek","sequence":"additional","affiliation":[{"name":"Department of Pathology and Cytology School of Medicine Duzce University Duzce Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Binnur","family":"Onal","sequence":"additional","affiliation":[{"name":"Department of Pathology and Cytology School of Medicine Duzce University Duzce Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,7,29]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/jso.20971"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11060-014-1553-8"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11060-006-9266-2"},{"key":"e_1_2_8_5_1","volume-title":"WHO Classification of Skin Tumors","author":"Shea C","year":"2018"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.20525"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/path.2494"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/modpathol.2017.91"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/NEN.0b013e3181c55d55"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1186\/1756-9966-33-33"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/neuonc\/nos083"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/his.12021"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/bs.acc.2019.03.004"},{"key":"e_1_2_8_14_1","first-page":"1","article-title":"Targeting ERBB2 (HER2) Amplification Identified by Next\u2010Generation sequencing in patients with advanced or metastatic solid tumors beyond conventional indications. 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