{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,21]],"date-time":"2025-11-21T16:49:15Z","timestamp":1763743755441,"version":"3.45.0"},"reference-count":13,"publisher":"BMJ","issue":"2","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["J Clin Pathol"],"accepted":{"date-parts":[[2013,7,25]]},"published-print":{"date-parts":[[2014,2]]},"abstract":"<jats:p>\n                    Polycythaemia vera (PV), essential thrombocythemia (ET) and idiopathic myelofibrosis (MF), are the most common myeloproliferative neoplasms (MPN) in patients without the BCR-ABL1 gene rearrangement. They are caused by clonal expansion of haematopoietic stem cells and share, as a diagnostic criterion, the identification of\n                    <jats:italic>JAK2<\/jats:italic>\n                    V617F mutation. Classically, when other clinical criteria are present, a\n                    <jats:italic>JAK2<\/jats:italic>\n                    V617F negative case requires the analysis of Exon12_\n                    <jats:italic>JAK2<\/jats:italic>\n                    for the diagnosis of PV, and of\n                    <jats:italic>MPL<\/jats:italic>\n                    515K\/L mutations for the diagnosis of ET and MF. Here, we evaluated 78 samples from Brazilian patients suspected to have MPN, without stratification for PV, ET or MF. We found that 28 (35.9%) are\n                    <jats:italic>JAK2<\/jats:italic>\n                    V617F carriers; from the 50 remaining samples, one (2%) showed an Exon12_\n                    <jats:italic>JAK2<\/jats:italic>\n                    mutation, and another (2%) was positive for\n                    <jats:italic>MPL<\/jats:italic>\n                    W515L mutation. In summary, the investigation of\n                    <jats:italic>JAK2<\/jats:italic>\n                    V617F, Exon12_\n                    <jats:italic>JAK2<\/jats:italic>\n                    and\n                    <jats:italic>MPL<\/jats:italic>\n                    W515K\/L was relevant for the diagnosis of 38.4% of patients suspected to have BCR-ABL1-negative MPN, suggesting that molecular genetic tests are useful for a quick and unequivocal diagnosis of MPN.\n                  <\/jats:p>","DOI":"10.1136\/jclinpath-2013-201822","type":"journal-article","created":{"date-parts":[[2013,8,29]],"date-time":"2013-08-29T00:26:50Z","timestamp":1377736010000},"page":"176-178","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":5,"title":["Molecular genetic tests for\n                    <i>JAK2<\/i>\n                    V617F, Exon12_\n                    <i>JAK2<\/i>\n                    and\n                    <i>MPL<\/i>\n                    W515K\/L are highly informative in the evaluation of patients suspected to have BCR-ABL1-negative myeloproliferative neoplasms"],"prefix":"10.1136","volume":"67","author":[{"given":"Marcos Tadeu","family":"dos Santos","sequence":"first","affiliation":[{"name":"Research and Development Department, Fleury Group, Sao Paulo, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miguel","family":"Mitne-Neto","sequence":"additional","affiliation":[{"name":"Research and Development Department, Fleury Group, Sao Paulo, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kozue","family":"Miyashiro","sequence":"additional","affiliation":[{"name":"Research and Development Department, Fleury Group, Sao Paulo, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria de Lourdes L Ferrari","family":"Chauffaille","sequence":"additional","affiliation":[{"name":"Research and Development Department, Fleury Group, Sao Paulo, Brazil"},{"name":"Department of Haematology and Hemotherapy Discipline, Federal University of S\u00e3o Paulo (EPM), Sao Paulo, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Edgar Gil","family":"Rizzatti","sequence":"additional","affiliation":[{"name":"Research and Development Department, Fleury Group, Sao Paulo, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2013,8,28]]},"reference":[{"key":"2025112108441748000_67.2.176.1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2007-12-128454"},{"key":"2025112108441748000_67.2.176.2","first-page":"1","article-title":"Neoplasias mieloproliferativas: revis\u00e3o dos crit\u00e9rios diagn\u00f3sticos e dos aspectos cl\u00ednicos","volume":"32","author":"Chauffaille","year":"2010","journal-title":"Rev Bras Hematol Hemot"},{"key":"2025112108441748000_67.2.176.3","doi-asserted-by":"crossref","unstructured":"Bench AJ, White HE, Foroni L, et al. Molecular diagnosis of the myeloproliferative neoplasms: UK guidelines for the detection of JAK2 V617F and other relevant mutations. Br J Haematol 2013;160:25\u201334.","DOI":"10.1111\/bjh.12075"},{"key":"2025112108441748000_67.2.176.4","doi-asserted-by":"crossref","unstructured":"Kiladjian JJ. The spectrum of JAK2-positive myeloproliferative neoplasms. Hem Am Soc Hematol Educ Program 2012;2012:561\u20136.","DOI":"10.1182\/asheducation.V2012.1.561.3807838"},{"key":"2025112108441748000_67.2.176.5","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.22063"},{"key":"2025112108441748000_67.2.176.6","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2007-05-089003"},{"key":"2025112108441748000_67.2.176.7","doi-asserted-by":"crossref","unstructured":"Monte-M\u00f3r BRC, Cunha AFC, Pagnano KBB, et al. JAK2 V617Fprevalence in Brazilian patients with polycythemia vera, idiopathic myelofibrosis and essential thrombocythemia. Genet and Mol Biol 2007;30:336\u20138.","DOI":"10.1590\/S1415-47572007000300006"},{"key":"2025112108441748000_67.2.176.8","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(05)71142-9"},{"key":"2025112108441748000_67.2.176.9","doi-asserted-by":"publisher","DOI":"10.1038\/nature03546"},{"key":"2025112108441748000_67.2.176.10","doi-asserted-by":"crossref","unstructured":"Kralovics R, Passamonti F, Buser AS, et al. A gain-of-function mutation of JAK2 in myeloproliferative disorders. N Engl J Med 2005;352(17):1779\u201390.","DOI":"10.1056\/NEJMoa051113"},{"key":"2025112108441748000_67.2.176.11","doi-asserted-by":"publisher","DOI":"10.1016\/j.ccr.2005.03.023"},{"key":"2025112108441748000_67.2.176.12","doi-asserted-by":"publisher","DOI":"10.5581\/1516-8484.20110116"},{"key":"2025112108441748000_67.2.176.13","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2007-11-125328"}],"container-title":["Journal of Clinical Pathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jclinpath-2013-201822","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,11,21]],"date-time":"2025-11-21T16:44:26Z","timestamp":1763743466000},"score":1,"resource":{"primary":{"URL":"https:\/\/jcp.bmj.com\/lookup\/doi\/10.1136\/jclinpath-2013-201822"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,8,28]]},"references-count":13,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2014,1,15]]},"published-print":{"date-parts":[[2014,2]]}},"alternative-id":["10.1136\/jclinpath-2013-201822"],"URL":"https:\/\/doi.org\/10.1136\/jclinpath-2013-201822","relation":{},"ISSN":["0021-9746","1472-4146"],"issn-type":[{"type":"print","value":"0021-9746"},{"type":"electronic","value":"1472-4146"}],"subject":[],"published":{"date-parts":[[2013,8,28]]}}}