{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T17:54:55Z","timestamp":1777398895170,"version":"3.51.4"},"reference-count":28,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2015,6,26]],"date-time":"2015-06-26T00:00:00Z","timestamp":1435276800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["European J of Haematology"],"published-print":{"date-parts":[[2016,4]]},"abstract":"Abstract<\/jats:title>Next\u2010generation sequencing (NGS<\/jats:styled-content>) is becoming increasingly used for diagnostic mutation analysis in myeloid neoplasms and may also represent a feasible technique in mastocytosis. However, detection of the KIT<\/jats:styled-content><\/jats:italic> D<\/jats:styled-content>816V<\/jats:styled-content> mutation requires a highly sensitive method in most patients due to the typically low mutation levels. In this study, we established an NGS<\/jats:styled-content>\u2010based KIT<\/jats:styled-content><\/jats:italic> mutation analysis and analyzed the sensitivity of D<\/jats:styled-content>816V<\/jats:styled-content> detection using the I<\/jats:styled-content>on T<\/jats:styled-content>orrent platform. Eighty\u2010two individual NGS<\/jats:styled-content> analyses were included in the study. All samples were also analyzed using highly sensitive KIT<\/jats:styled-content><\/jats:italic> D<\/jats:styled-content>816V<\/jats:styled-content> mutation\u2010specific qPCR<\/jats:styled-content>. Measurements of the background level in D<\/jats:styled-content>816V<\/jats:styled-content>\u2010negative samples supported a cutoff for positivity of 0.2% in three different NGS<\/jats:styled-content> panels. Clinical samples from patients with SM<\/jats:styled-content> that tested positive using qPCR<\/jats:styled-content> with a D<\/jats:styled-content>816V<\/jats:styled-content> allele burden >0.2% also tested positive using NGS<\/jats:styled-content>. Samples that tested positive using qPCR<\/jats:styled-content> with an allele burden <0.2% tested negative using NGS<\/jats:styled-content>. We thereby demonstrate that caution should be taken when using the potentially very sensitive NGS<\/jats:styled-content> technique for KIT<\/jats:styled-content><\/jats:italic> D<\/jats:styled-content>816V<\/jats:styled-content> mutation analysis in mastocytosis, as many patients with SM<\/jats:styled-content> have D<\/jats:styled-content>816V<\/jats:styled-content> mutation levels below the detection limit of NGS<\/jats:styled-content>. A dedicated and highly sensitive KIT<\/jats:styled-content><\/jats:italic> D<\/jats:styled-content>816V<\/jats:styled-content> mutation analysis therefore remains important in mastocytosis diagnostics.<\/jats:p>","DOI":"10.1111\/ejh.12601","type":"journal-article","created":{"date-parts":[[2015,6,19]],"date-time":"2015-06-19T11:08:55Z","timestamp":1434712135000},"page":"381-388","source":"Crossref","is-referenced-by-count":15,"title":["Targeted ultradeep next\u2010generation sequencing as a method for KIT<\/scp><\/i>D<\/scp>816V<\/scp> mutation analysis in mastocytosis"],"prefix":"10.1111","volume":"96","author":[{"given":"Thomas","family":"Kristensen","sequence":"first","affiliation":[{"name":"Department of Pathology Odense University Hospital Odense Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sigurd","family":"Broesby\u2010Olsen","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Allergy Centre Odense University Hospital Odense 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