{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,4]],"date-time":"2025-10-04T14:31:21Z","timestamp":1759588281854},"reference-count":20,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2008,9,18]],"date-time":"2008-09-18T00:00:00Z","timestamp":1221696000000},"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":[[2008,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Pediatric essential thrombocythemia (ET) is a rare and heterogenous disease entity. While several recent studies have focused on the role of the <jats:italic>JAK2<\/jats:italic> V617F mutation in pediatric ET, the frequency of pediatric ET cases with this mutation and the associated clinical features remain unclear.<\/jats:p><\/jats:sec><jats:sec><jats:title>Procedure<\/jats:title><jats:p>We examined six childhood cases who had been diagnosed with ET according to WHO criteria (onset age: 0.2\u201314 years) for the presence of the <jats:italic>JAK2<\/jats:italic> V617F mutation, <jats:italic>MPL<\/jats:italic>W515L mutation and <jats:italic>JAK2<\/jats:italic> exon 12 mutations. Two sensitive PCR\u2010based methods were used for the <jats:italic>JAK2<\/jats:italic> V617F genotyping. We also examined the expression of polycythemia rubra vera\u20101 (<jats:italic>PRV\u20101<\/jats:italic>), which is a diagnostic marker for clonal ET.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We found that three of the six cases had the <jats:italic>JAK2<\/jats:italic> V617F mutation and that all six cases expressed <jats:italic>PRV\u20101<\/jats:italic> in their peripheral granulocytes. Neither <jats:italic>MPL<\/jats:italic> W515L mutation nor <jats:italic>JAK2<\/jats:italic> exon 12 mutations was detected in the patients without <jats:italic>JAK2<\/jats:italic> V617F mutation. The two patients who developed thrombocythemia during infancy were <jats:italic>JAK2<\/jats:italic> V617F\u2010negative.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>These findings suggest that the <jats:italic>JAK2<\/jats:italic> V617F mutation is not rare in childhood sporadic ET cases, and that these cases might be older and myeloproliferative features. Pediatr Blood Cancer 2008;51:802\u2013805. \u00a9 2008 Wiley\u2010Liss, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pbc.21730","type":"journal-article","created":{"date-parts":[[2008,9,18]],"date-time":"2008-09-18T17:11:28Z","timestamp":1221757888000},"page":"802-805","source":"Crossref","is-referenced-by-count":9,"title":["Frequency and clinical features of the <i>JAK2<\/i> V617F mutation in pediatric patients with sporadic essential thrombocythemia"],"prefix":"10.1002","volume":"51","author":[{"given":"Takuya","family":"Nakatani","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toshihiko","family":"Imamura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroyuki","family":"Ishida","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katsuji","family":"Wakaizumi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tohru","family":"Yamamoto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Osamu","family":"Otabe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tsuyoshi","family":"Ishigami","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Souichi","family":"Adachi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akira","family":"Morimoto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2008,10,9]]},"reference":[{"key":"e_1_2_5_2_2","doi-asserted-by":"publisher","DOI":"10.1002\/pbc.21128"},{"key":"e_1_2_5_3_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2004.05329.x"},{"key":"e_1_2_5_4_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2141.2000.02239-7.x"},{"key":"e_1_2_5_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(05)71142-9"},{"key":"e_1_2_5_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ccr.2005.03.023"},{"key":"e_1_2_5_7_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa051113"},{"key":"e_1_2_5_8_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2006-04-014746"},{"key":"e_1_2_5_9_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.leu.2404259"},{"key":"e_1_2_5_10_2","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2006.08.6884"},{"key":"e_1_2_5_11_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2002-04-1199"},{"key":"e_1_2_5_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(05)67785-9"},{"key":"e_1_2_5_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.humpath.2007.06.001"},{"key":"e_1_2_5_14_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa065202"},{"key":"e_1_2_5_15_2","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2002.11.507"},{"key":"e_1_2_5_16_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.leu.2404060"},{"key":"e_1_2_5_17_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2006-06-029769"},{"key":"e_1_2_5_18_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0889-8588(03)00082-0"},{"key":"e_1_2_5_19_2","doi-asserted-by":"publisher","DOI":"10.4049\/jimmunol.166.8.4822"},{"key":"e_1_2_5_20_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2006-04-018879"},{"key":"e_1_2_5_21_2","doi-asserted-by":"crossref","first-page":"208a","DOI":"10.1182\/blood.V110.11.677.677","article-title":"Clinical significance of MPL mutations in essential thrombocythemia: Analysis of the PT\u20101 cohort","volume":"110","author":"Beer P","year":"2007","journal-title":"Blood"}],"container-title":["Pediatric Blood &amp; 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