{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T16:45:01Z","timestamp":1792082701734,"version":"4.4.0"},"reference-count":22,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2016,7,22]],"date-time":"2016-07-22T00:00:00Z","timestamp":1469145600000},"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":["Br J Haematol"],"published-print":{"date-parts":[[2016,11]]},"abstract":"<jats:p>Molecular routine diagnostics for <jats:italic><jats:styled-content style=\"fixed-case\">BCR<\/jats:styled-content>\u2010<jats:styled-content style=\"fixed-case\">ABL<\/jats:styled-content>1<\/jats:italic>\u2010negative myeloproliferative neoplasms (<jats:styled-content style=\"fixed-case\">MPN<\/jats:styled-content>) currently focusses on mutations in <jats:italic><jats:styled-content style=\"fixed-case\">JAK<\/jats:styled-content>2<\/jats:italic>,<jats:italic> <jats:styled-content style=\"fixed-case\">CALR<\/jats:styled-content><\/jats:italic> and <jats:italic><jats:styled-content style=\"fixed-case\">MPL<\/jats:styled-content><\/jats:italic>. In recent years, recurrent mutations in <jats:styled-content style=\"fixed-case\">MPN<\/jats:styled-content>s have been identified in several other genes. We here present the validation of a next generation sequencing (<jats:styled-content style=\"fixed-case\">NGS<\/jats:styled-content>)\u2010based 28\u2010gene panel and its use in <jats:styled-content style=\"fixed-case\">MPN<\/jats:styled-content>. We analysed the mutation status of 28 genes in 100 <jats:styled-content style=\"fixed-case\">MPN<\/jats:styled-content> patients [40 essential thrombocythaemia (<jats:styled-content style=\"fixed-case\">ET<\/jats:styled-content>), 30 primary myelofibrosis (<jats:styled-content style=\"fixed-case\">PMF<\/jats:styled-content>), 30 polycythaemia vera (<jats:styled-content style=\"fixed-case\">PV<\/jats:styled-content>)] and found two or more mutated genes in 53 patients. Moreover, significantly more mutated splicing genes (<jats:italic><jats:styled-content style=\"fixed-case\">SF<\/jats:styled-content>3B1<\/jats:italic>,<jats:italic> <jats:styled-content style=\"fixed-case\">SRSF<\/jats:styled-content>2<\/jats:italic> and <jats:italic>U2<jats:styled-content style=\"fixed-case\">AF<\/jats:styled-content>1)<\/jats:italic> were present in <jats:styled-content style=\"fixed-case\">PMF<\/jats:styled-content> (0\u00b760 mutated genes\/patient) compared to <jats:styled-content style=\"fixed-case\">ET<\/jats:styled-content> (0\u00b715) while no mutations in splicing genes were found in <jats:styled-content style=\"fixed-case\">PV<\/jats:styled-content>. Additionally, chromatin modification genes (<jats:italic><jats:styled-content style=\"fixed-case\">ASXL<\/jats:styled-content>1<\/jats:italic> and <jats:italic><jats:styled-content style=\"fixed-case\">EZH<\/jats:styled-content>2<\/jats:italic>) were frequently mutated in <jats:styled-content style=\"fixed-case\">PMF<\/jats:styled-content> patients (0\u00b750) and, to a significantly lesser extent, in <jats:styled-content style=\"fixed-case\">ET<\/jats:styled-content> (0\u00b713) and <jats:styled-content style=\"fixed-case\">PV<\/jats:styled-content> (0\u00b707). Contrarily, <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> methylation genes (<jats:italic><jats:styled-content style=\"fixed-case\">DNMT<\/jats:styled-content>3A, <jats:styled-content style=\"fixed-case\">IDH<\/jats:styled-content>1, <jats:styled-content style=\"fixed-case\">IDH<\/jats:styled-content>2<\/jats:italic> and <jats:italic><jats:styled-content style=\"fixed-case\">TET<\/jats:styled-content>2<\/jats:italic>) were mutated most often in <jats:styled-content style=\"fixed-case\">PV<\/jats:styled-content> (0\u00b75) and less frequently in <jats:styled-content style=\"fixed-case\">ET<\/jats:styled-content> (0\u00b723) and <jats:styled-content style=\"fixed-case\">PMF<\/jats:styled-content> (0\u00b720), but without reaching statistical significance. Our results demonstrate the feasibility and utility of <jats:styled-content style=\"fixed-case\">NGS<\/jats:styled-content>\u2010based panel diagnostics for <jats:styled-content style=\"fixed-case\">MPN<\/jats:styled-content>. With 53% of the patients bearing two or more mutated genes, their prognostic relevance needs further studies.<\/jats:p>","DOI":"10.1111\/bjh.14269","type":"journal-article","created":{"date-parts":[[2016,7,22]],"date-time":"2016-07-22T14:06:50Z","timestamp":1469196410000},"page":"419-426","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":77,"title":["Application of an <scp>NGS<\/scp>\u2010based 28\u2010gene panel in myeloproliferative neoplasms reveals distinct mutation patterns in essential thrombocythaemia, primary myelofibrosis and polycythaemia vera"],"prefix":"10.1111","volume":"175","author":[{"given":"Sabit","family":"Delic","sequence":"first","affiliation":[{"name":"MLL Munich Leukemia Laboratory Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominic","family":"Rose","sequence":"additional","affiliation":[{"name":"MLL Munich Leukemia Laboratory Munich 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