{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T19:02:46Z","timestamp":1740164566472,"version":"3.37.3"},"reference-count":27,"publisher":"Wiley","license":[{"start":{"date-parts":[[2018,1,1]],"date-time":"2018-01-01T00:00:00Z","timestamp":1514764800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Reports in Hematology"],"published-print":{"date-parts":[[2018]]},"abstract":"<jats:p>The term \u201cidiopathic erythrocytosis (IE)\u201d is applied to those cases where a causal clinical or pathological event cannot be elucidated and likely reflects a spectrum of underlying medical and molecular abnormalities. The clinical course of a patient with IE is described manifesting as a persistent erythrocytosis with a low serum erythropoietin level, mild eosinophilia, and with evidence of a thrombotic event. The patient subsequently developed a myelodysplasic syndrome (MDS) and acute myeloid leukemia (AML), an event not observed in erythrocytosis patients other than those with polycythemia vera (PV). Application of a next-generation sequencing (NGS) approach targeted for myeloid malignancies confirmed wild-type <jats:italic>JAK2<\/jats:italic> exons 12\u201315 and identified a common <jats:italic>SH2B3<\/jats:italic> W262R single-nucleotide polymorphism associated with the development of hematological features of myeloproliferative neoplasms (MPNs). Further NGS analysis detected a <jats:italic>CBL<\/jats:italic> L380P mutated clone expanding in parallel with the development of MDS and subsequent AML. Despite the absence of <jats:italic>JAK2<\/jats:italic>, <jats:italic>MPL<\/jats:italic> exon 10, or <jats:italic>CALR<\/jats:italic> exon 9 mutations, a similarity with the disease course of PV\/MPN was evident. A clonal link between the erythrocytosis and AML could be neither confirmed nor excluded. Future molecular identification of the mechanisms underlying IE is likely to provide a more refined therapeutic approach.<\/jats:p>","DOI":"10.1155\/2018\/4378310","type":"journal-article","created":{"date-parts":[[2018,2,22]],"date-time":"2018-02-22T18:31:24Z","timestamp":1519324284000},"page":"1-4","source":"Crossref","is-referenced-by-count":0,"title":["Myelodysplastic Syndrome\/Acute Myeloid Leukemia Arising in Idiopathic Erythrocytosis"],"prefix":"10.1155","volume":"2018","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6119-158X","authenticated-orcid":true,"given":"Stephen E.","family":"Langabeer","sequence":"first","affiliation":[{"name":"Cancer Molecular Diagnostics, St. James\u2019s Hospital, Dublin 8, Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eibhlin","family":"Conneally","sequence":"additional","affiliation":[{"name":"Department of Haematology, St. James\u2019s Hospital, Dublin 8, Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Catherine M.","family":"Flynn","sequence":"additional","affiliation":[{"name":"Department of Haematology, St. James\u2019s Hospital, Dublin 8, Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","reference":[{"key":"1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejim.2015.03.007"},{"key":"2","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2016-03-643544"},{"key":"3","doi-asserted-by":"publisher","DOI":"10.1111\/ejh.12170"},{"key":"4","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.24873"},{"key":"5","doi-asserted-by":"publisher","DOI":"10.1007\/s11899-016-0334-1"},{"key":"6","doi-asserted-by":"publisher","DOI":"10.1007\/s40291-016-0222-3"},{"key":"7","doi-asserted-by":"publisher","DOI":"10.1016\/j.bcmd.2017.07.001"},{"key":"8","doi-asserted-by":"publisher","DOI":"10.1038\/sj.leu.2404325"},{"key":"9","doi-asserted-by":"publisher","DOI":"10.1038\/sj.leu.2404419"},{"key":"10","doi-asserted-by":"publisher","DOI":"10.1016\/j.lrr.2016.07.003"},{"key":"11","doi-asserted-by":"publisher","DOI":"10.1038\/leu.2010.23"},{"key":"12","doi-asserted-by":"publisher","DOI":"10.1111\/bjh.14126"},{"key":"13","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2016-02-698951"},{"key":"14","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.24259"},{"key":"15","doi-asserted-by":"publisher","DOI":"10.1038\/leu.2017.139"},{"key":"16","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2013-10-532622"},{"key":"17","doi-asserted-by":"publisher","DOI":"10.1016\/j.thromres.2017.08.009"},{"key":"18","doi-asserted-by":"publisher","DOI":"10.1038\/ng.323"},{"key":"19","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2010.035287"},{"key":"20","doi-asserted-by":"publisher","DOI":"10.1038\/ng.466"},{"key":"21","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0154183"},{"key":"22","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2015-06-652941"},{"key":"23","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.22154"},{"key":"24","doi-asserted-by":"publisher","DOI":"10.1038\/bcj.2015.95"},{"key":"25","doi-asserted-by":"publisher","DOI":"10.1186\/1897-4287-11-11"},{"key":"26","doi-asserted-by":"publisher","DOI":"10.1158\/1078-0432.ccr-08-1325"},{"key":"27","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2016.144063"}],"container-title":["Case Reports in Hematology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/crihem\/2018\/4378310.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crihem\/2018\/4378310.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crihem\/2018\/4378310.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2018,2,22]],"date-time":"2018-02-22T18:31:24Z","timestamp":1519324284000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.hindawi.com\/journals\/crihem\/2018\/4378310\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018]]},"references-count":27,"alternative-id":["4378310","4378310"],"URL":"https:\/\/doi.org\/10.1155\/2018\/4378310","relation":{},"ISSN":["2090-6560","2090-6579"],"issn-type":[{"type":"print","value":"2090-6560"},{"type":"electronic","value":"2090-6579"}],"subject":[],"published":{"date-parts":[[2018]]}}}