{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T07:24:19Z","timestamp":1777533859655,"version":"3.51.4"},"reference-count":14,"publisher":"Hindawi Limited","license":[{"start":{"date-parts":[[2014,1,1]],"date-time":"2014-01-01T00:00:00Z","timestamp":1388534400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Reports in Hematology"],"published-print":{"date-parts":[[2014]]},"abstract":"<jats:p>Familial essential thrombocythemia features the acquisition of somatic mutations and an evolution similar to the sporadic form of the disease. Here we report two patients\u2014father and daughter\u2014with essential thrombocythemia who displayed a heterogeneous pattern of somatic mutations. The<jats:italic>JAK2<\/jats:italic>V617F mutation was found in the daughter, while the father harbored the<jats:italic>MPL<\/jats:italic>W515L mutation. This case report may constitute further proof that in familial essential thrombocythemia there are other, still undefined, constitutional, inherited genetic factors predisposing to the acquisition of various somatic mutations (e.g.,<jats:italic>JAK2<\/jats:italic>V617F and<jats:italic>MPL<\/jats:italic>).<\/jats:p>","DOI":"10.1155\/2014\/841787","type":"journal-article","created":{"date-parts":[[2014,11,10]],"date-time":"2014-11-10T16:03:33Z","timestamp":1415635413000},"page":"1-3","source":"Crossref","is-referenced-by-count":4,"title":["Familial Essential Thrombocythemia Associated with<i>MPL<\/i>W515L Mutation in Father and<i>JAK2<\/i>V617F Mutation in Daughter"],"prefix":"10.1155","volume":"2014","author":[{"given":"Adrian P.","family":"Trifa","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, \u201cIuliu Hatieganu\u201d University of Medicine and Pharmacy, 400349 Cluj-Napoca, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrei","family":"Cucuianu","sequence":"additional","affiliation":[{"name":"Department of Haematology, \u201cIon Chiricuta\u201d Cancer Institute, Cluj-Napoca, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Radu A.","family":"Popp","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, \u201cIuliu Hatieganu\u201d University of Medicine and Pharmacy, 400349 Cluj-Napoca, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"98","reference":[{"key":"1","doi-asserted-by":"publisher","DOI":"10.1007\/s10689-014-9743-2"},{"issue":"4","key":"2","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1177\/2040620713489144","volume":"4","year":"2013","journal-title":"Therapeutic Advances in Hematology"},{"key":"3","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2008-03-143602"},{"key":"4","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2007-06-095703"},{"key":"5","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2009-08-236448"},{"key":"6","doi-asserted-by":"publisher","DOI":"10.1038\/leu.2014.48"},{"key":"7","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.23842"},{"key":"8","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2005-03-1320"},{"key":"9","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmoldx.2013.07.006"},{"key":"10","doi-asserted-by":"publisher","DOI":"10.1159\/000264954"},{"key":"11","first-page":"365","volume-title":"Primer3 on the WWW for general users and for biologist programmers","year":"2000"},{"key":"12","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2010.034488"},{"key":"13","doi-asserted-by":"publisher","DOI":"10.1016\/j.bcmd.2012.06.004"},{"key":"14","doi-asserted-by":"publisher","DOI":"10.1038\/leu.2014.33"}],"container-title":["Case Reports in Hematology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/crihem\/2014\/841787.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crihem\/2014\/841787.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crihem\/2014\/841787.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,6,22]],"date-time":"2017-06-22T19:53:52Z","timestamp":1498161232000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.hindawi.com\/journals\/crihem\/2014\/841787\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014]]},"references-count":14,"alternative-id":["841787","841787"],"URL":"https:\/\/doi.org\/10.1155\/2014\/841787","relation":{},"ISSN":["2090-6560","2090-6579"],"issn-type":[{"value":"2090-6560","type":"print"},{"value":"2090-6579","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014]]}}}