{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,8]],"date-time":"2026-06-08T11:33:48Z","timestamp":1780918428892,"version":"3.54.1"},"reference-count":30,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[2018,1,11]],"date-time":"2018-01-11T00:00:00Z","timestamp":1515628800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Genetic Testing and Molecular Biomarkers"],"published-print":{"date-parts":[[2018,2,1]]},"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>\n                      The classical Philadelphia chromosome-negative myeloproliferative neoplasms (MPNs), consisting of polycythemia vera, essential thrombocythemia, and primary myelofibrosis, are a heterogeneous group of neoplasms that harbor driver mutations in the\n                      <jats:italic toggle=\"yes\">JAK2<\/jats:italic>\n                      ,\n                      <jats:italic toggle=\"yes\">CALR<\/jats:italic>\n                      , and\n                      <jats:italic toggle=\"yes\">MPL<\/jats:italic>\n                      genes. The detection of mutations in these genes has been incorporated into the recent World Health Organization (WHO) diagnostic criteria for MPN. Given a pressing clinical need to screen for mutations in these genes in a routine diagnostic setting, a targeted next-generation sequencing (NGS) assay for the detection of MPN-associated mutations located in\n                      <jats:italic toggle=\"yes\">JAK2<\/jats:italic>\n                      exon 14,\n                      <jats:italic toggle=\"yes\">JAK2<\/jats:italic>\n                      exon 12,\n                      <jats:italic toggle=\"yes\">CALR<\/jats:italic>\n                      exon 9, and\n                      <jats:italic toggle=\"yes\">MPL<\/jats:italic>\n                      exon 10 was developed to provide a single platform alternative to reflexive, stepwise diagnostic algorithms.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>\n                      Polymerase chain reaction (PCR) primers were designed to target mutation hotspots in\n                      <jats:italic toggle=\"yes\">JAK2<\/jats:italic>\n                      exon 14,\n                      <jats:italic toggle=\"yes\">JAK2<\/jats:italic>\n                      exon 12,\n                      <jats:italic toggle=\"yes\">MPL<\/jats:italic>\n                      exon 10, and\n                      <jats:italic toggle=\"yes\">CALR<\/jats:italic>\n                      exon 9. Multiplexed PCR conditions were optimized by using qualitative PCR followed by NGS. Diagnostic genomic DNA from 35 MPN patients, known to harbor driver mutations in one of the target genes, was used to validate the assay.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>One hundred percent concordance was observed between the previously-identified mutations and those detected by NGS, with no false positives, nor any known mutations missed (specificity\u2009=\u2009100%, CI\u2009=\u20090.96, sensitivity\u2009=\u2009100%, CI\u2009=\u20090.89). Improved resolution of mutation sequences was also revealed by NGS analysis.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion:<\/jats:title>\n                    <jats:p>Detection of diagnostically relevant driver mutations of MPN is enhanced by employing a targeted multiplex NGS approach. This assay presents a robust solution to classical MPN mutation screening, providing an alternative to time-consuming sequential analyses.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1089\/gtmb.2017.0203","type":"journal-article","created":{"date-parts":[[2018,1,11]],"date-time":"2018-01-11T11:12:57Z","timestamp":1515669177000},"page":"98-103","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":8,"title":["Development of a Targeted Next-Generation Sequencing Assay to Detect Diagnostically Relevant Mutations of\n                    <i>JAK2<\/i>\n                    ,\n                    <i>CALR<\/i>\n                    , and\n                    <i>MPL<\/i>\n                    in Myeloproliferative Neoplasms"],"prefix":"10.1177","volume":"22","author":[{"given":"Thomas","family":"Frawley","sequence":"first","affiliation":[{"name":"St. James's Hospital","place":["Ireland"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cathal P.","family":"O'Brien","sequence":"additional","affiliation":[{"name":"St. James's Hospital","place":["Ireland"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eibhlin","family":"Conneally","sequence":"additional","affiliation":[{"name":"Department of Haematology St. James's Hospital","place":["Ireland"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabeth","family":"Vandenberghe","sequence":"additional","affiliation":[{"name":"Department of Haematology St. James's Hospital","place":["Ireland"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melanie","family":"Percy","sequence":"additional","affiliation":[{"name":"Belfast City Hospital","place":["United Kingdom"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen E.","family":"Langabeer","sequence":"additional","affiliation":[{"name":"St. James's Hospital","place":["Ireland"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karl","family":"Haslam","sequence":"additional","affiliation":[{"name":"St. James's 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