{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,26]],"date-time":"2026-07-26T23:17:48Z","timestamp":1785107868453,"version":"3.55.0"},"reference-count":33,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2011,11,21]],"date-time":"2011-11-21T00:00:00Z","timestamp":1321833600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Blood &amp; Cancer"],"published-print":{"date-parts":[[2012,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Acquired somatic mutations of <jats:italic>JAK2<\/jats:italic> have been reported to play a pivotal role in the pathogenesis of <jats:italic>BCR\u2010ABL1<\/jats:italic>\u2010negative myeloproliferative neoplasm (MPN). However, the molecular characteristics of childhood MPN remain to be elucidated.<\/jats:p><\/jats:sec><jats:sec><jats:title>Patient and Methods<\/jats:title><jats:p>We investigated a group of pediatric patients diagnosed either with essential thrombocythemia (ET; N\u2009=\u20099) or polycythemia vera (PV; N\u2009=\u20094) according to WHO criteria (median age\u2009=\u200910 years; range 1.5\u201315 years) in whom direct sequencing was performed for the existence of genetic alterations in <jats:italic>JAK2<\/jats:italic>, <jats:italic>MPL<\/jats:italic>, <jats:italic>TET2<\/jats:italic>, <jats:italic>ASXL1<\/jats:italic>, <jats:italic>CBL<\/jats:italic>, <jats:italic>IDH1<\/jats:italic>, and <jats:italic>IDH2<\/jats:italic>. More sensitive allele specific polymerase chain reaction was used for <jats:italic>JAK2<\/jats:italic><jats:sup><jats:italic>V617F<\/jats:italic><\/jats:sup> genotyping.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We found three patients harbor <jats:italic>JAK2<\/jats:italic><jats:sup><jats:italic>V617F<\/jats:italic><\/jats:sup> mutation (2\/9 ET and 1\/4 PV). Bone marrow examination showed small and large megakaryocytes with dysplastic features in <jats:italic>JAK2<\/jats:italic><jats:sup><jats:italic>V617F<\/jats:italic><\/jats:sup>\u2010positive ET patients compared to those without <jats:italic>JAK2<\/jats:italic><jats:sup><jats:italic>V617F<\/jats:italic><\/jats:sup>. We identified a previously unrecognized missense mutation at codon 1230 in exon 12 of <jats:italic>ASXL1<\/jats:italic> gene in ET and PV patients (1\/9 ET and 1\/4 PV). Otherwise, no genetic alterations could be detected in <jats:italic>JAK2<\/jats:italic> exon 12, <jats:italic>MPL<\/jats:italic>, <jats:italic>TET2<\/jats:italic>, <jats:italic>CBL<\/jats:italic>, <jats:italic>IDH1<\/jats:italic>, and <jats:italic>IDH2<\/jats:italic> in all ET and PV patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Although <jats:italic>JAK2<\/jats:italic> mutations in childhood ET and PV are not as frequent as reported in adult patients, <jats:italic>JAK2<\/jats:italic> is the most frequently mutated gene in childhood MPN known so far. Owing to the presence of childhood MPN without any genetic alterations in <jats:italic>JAK2<\/jats:italic>, <jats:italic>MPL<\/jats:italic>, <jats:italic>TET2<\/jats:italic>, <jats:italic>ASXL1<\/jats:italic>, <jats:italic>CBL<\/jats:italic>, <jats:italic>IDH1<\/jats:italic>, and <jats:italic>IDH2<\/jats:italic>, new biological markers have to be found. Pediatr Blood Cancer 2012;59:530\u2013535. \u00a9 2011 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pbc.23409","type":"journal-article","created":{"date-parts":[[2011,11,21]],"date-time":"2011-11-21T14:42:24Z","timestamp":1321886544000},"page":"530-535","source":"Crossref","is-referenced-by-count":14,"title":["Mutations profile of polycythemia vera and essential thrombocythemia among Japanese 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