{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,8]],"date-time":"2026-06-08T11:33:49Z","timestamp":1780918429219,"version":"3.54.1"},"reference-count":39,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2015,9,11]],"date-time":"2015-09-11T00:00:00Z","timestamp":1441929600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["wiley.com"],"crossmark-restriction":true},"short-container-title":["Int J Lab Hematology"],"published-print":{"date-parts":[[2016,2]]},"abstract":"<jats:title>Summary<\/jats:title><jats:sec><jats:title>Introduction<\/jats:title><jats:p>The <jats:italic>Janus kinase<\/jats:italic> (<jats:italic><jats:styled-content style=\"fixed-case\">JAK<\/jats:styled-content><\/jats:italic>)<jats:italic>2<\/jats:italic> p.V617F gain\u2010of\u2010function mutation is a hallmark of <jats:styled-content style=\"fixed-case\">BCR<\/jats:styled-content><jats:italic>\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>s). This study analyzed <jats:italic><jats:styled-content style=\"fixed-case\">JAK<\/jats:styled-content>2<\/jats:italic> mutations in 1811 patients tested between 2010 and 2013.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Exons 12\u201315 of <jats:italic><jats:styled-content style=\"fixed-case\">JAK<\/jats:styled-content>2<\/jats:italic> were sequenced in 1706 samples, and patients harboring mutations were clinically evaluated.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Of 271 patients (16%) with <jats:italic><jats:styled-content style=\"fixed-case\">JAK<\/jats:styled-content>2<\/jats:italic> mutations, 148 (54.6%) were female and 123 (45.4%) were male; 103 (38%) were local and 168 (62%) were referred; and 13 (5%) had additional genetic abnormalities. The median patient age was 54\u00a0years, and there was only one pediatric patient. In agreement with previous reports, 262 patients (96.7%) were positive for the <jats:italic><jats:styled-content style=\"fixed-case\">JAK<\/jats:styled-content>2<\/jats:italic> p.V617F mutation. Non\u2010p.V617F <jats:italic><jats:styled-content style=\"fixed-case\">JAK<\/jats:styled-content>2<\/jats:italic> mutations were detected in the remaining nine (3.3%) patients: five (1.8%) had a p.G571S mutation, and one (0.3%) each had p.E543_D544del, p.Y570Y silent, p.R541_E543delinsK, and p.I540_N542delinsM mutations. Diagnosis of 103 (38%) in\u2010house cases revealed a predominance of <jats:styled-content style=\"fixed-case\">MPN<\/jats:styled-content> patients (87 cases, or 84.4%).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p><jats:italic><jats:styled-content style=\"fixed-case\">JAK<\/jats:styled-content>2<\/jats:italic> p.V617F was the most prevalent mutation detected among patients in this study. Non\u2010p.V617F <jats:italic><jats:styled-content style=\"fixed-case\">JAK<\/jats:styled-content>2<\/jats:italic> mutations were identified in exons 12 and 13 corresponding to recently reported mutations, except for the novel p.I540_N542delinsM.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ijlh.12425","type":"journal-article","created":{"date-parts":[[2015,9,11]],"date-time":"2015-09-11T13:26:49Z","timestamp":1441978009000},"page":"34-41","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Detection of mutations in <i><scp>JAK<\/scp>2<\/i> exons 12\u201315 by Sanger sequencing"],"prefix":"10.1111","volume":"38","author":[{"given":"N.","family":"Alghasham","sequence":"first","affiliation":[{"name":"Pathology Department College of Medicine Qassim University Buraidah Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y.","family":"Alnouri","sequence":"additional","affiliation":[{"name":"Regional Lab 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