{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,11]],"date-time":"2025-11-11T13:43:21Z","timestamp":1762868601860,"version":"3.40.5"},"reference-count":18,"publisher":"S. Karger AG","issue":"2","license":[{"start":{"date-parts":[[2021,9,6]],"date-time":"2021-09-06T00:00:00Z","timestamp":1630886400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2021,9,6]],"date-time":"2021-09-06T00:00:00Z","timestamp":1630886400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Acta Haematol"],"published-print":{"date-parts":[[2022]]},"abstract":"<jats:p>Chronic eosinophilic leukaemia, not otherwise specified (CEL, NOS), is a diagnosis of exclusion made in cases in which there is clonal eosinophilia but an absence of genetic aberrations that define other disease subtypes. There is a need for further characterization of these cases in order to inform risk stratification and management. The importance of &lt;i&gt;JAK2&lt;\/i&gt; mutations in myeloproliferative neoplasms (MPN) as a whole is well established, although their role specifically in eosinophilic disorders is less clear, with only a minority of cases demonstrating &lt;i&gt;JAK2&lt;\/i&gt; abnormalities. Here, we report 2 cases with an exon 13 insertion-deletion (indel) mutation in &lt;i&gt;JAK2:&lt;\/i&gt; one with CEL-NOS and the second with an unspecified eosinophilic disorder. &lt;i&gt;JAK2&lt;\/i&gt; indels were not detected in a screen of suspected MPN cases (&lt;i&gt;n&lt;\/i&gt; = 592) without eosinophilia that tested negative for common MPN driver mutations. Our findings thus provide further evidence for a specific association between this rare mutation and clonal eosinophilic disorders. <\/jats:p>","DOI":"10.1159\/000518737","type":"journal-article","created":{"date-parts":[[2021,9,6]],"date-time":"2021-09-06T21:01:37Z","timestamp":1630962097000},"page":"201-206","source":"Crossref","is-referenced-by-count":5,"title":["Chronic Eosinophilic Leukaemia Associated with &lt;b&gt;&lt;i&gt;JAK2&lt;\/i&gt;&lt;\/b&gt; Exon 13 Insertion\/Deletion Mutations"],"prefix":"10.1159","volume":"145","author":[{"given":"Nicholas","family":"Lafferty","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matthew","family":"Salmon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5481-2555","authenticated-orcid":false,"given":"Nicholas C.P.","family":"Cross","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Iain","family":"Singer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aaron","family":"Cooney","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ram","family":"Jayaprakash","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2021,9,6]]},"reference":[{"doi-asserted-by":"publisher","key":"ref1","DOI":"10.1002\/ajh.25617"},{"doi-asserted-by":"publisher","key":"ref2","DOI":"10.1111\/bjh.14488"},{"doi-asserted-by":"publisher","key":"ref3","DOI":"10.1002\/ajh.23193"},{"doi-asserted-by":"publisher","key":"ref4","DOI":"10.1080\/10428194.2018.1564825"},{"doi-asserted-by":"publisher","key":"ref5","DOI":"10.1182\/blood.2019001385"},{"doi-asserted-by":"publisher","key":"ref6","DOI":"10.1111\/bjh.12963"},{"doi-asserted-by":"publisher","key":"ref7","DOI":"10.1007\/s12185-019-02803-x"},{"doi-asserted-by":"publisher","key":"ref8","DOI":"10.1002\/ajh.24221"},{"doi-asserted-by":"publisher","key":"ref9","DOI":"10.1002\/ajh.24075"},{"doi-asserted-by":"publisher","key":"ref10","DOI":"10.1002\/cncr.31986"},{"doi-asserted-by":"publisher","key":"ref11","DOI":"10.2353\/jmoldx.2009.080114"},{"doi-asserted-by":"publisher","key":"ref12","DOI":"10.1002\/ajh.21926"},{"doi-asserted-by":"publisher","key":"ref13","DOI":"10.1371\/journal.pone.0034912"},{"doi-asserted-by":"publisher","key":"ref14","DOI":"10.1002\/ajh.25811"},{"doi-asserted-by":"publisher","key":"ref15","DOI":"10.1038\/modpathol.2016.75"},{"doi-asserted-by":"publisher","key":"ref16","DOI":"10.1038\/leu.2016.73"},{"doi-asserted-by":"publisher","key":"ref17","DOI":"10.1371\/journal.pone.0185602"},{"doi-asserted-by":"publisher","key":"ref18","DOI":"10.1182\/blood-2016-10-695973"}],"container-title":["Acta Haematologica"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/518737","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/518737","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T15:18:59Z","timestamp":1745421539000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000518737"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,9,6]]},"references-count":18,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2022,3,23]]},"published-print":{"date-parts":[[2022,4,19]]}},"URL":"https:\/\/doi.org\/10.1159\/000518737","archive":["Portico"],"relation":{},"ISSN":["0001-5792","1421-9662"],"issn-type":[{"type":"print","value":"0001-5792"},{"type":"electronic","value":"1421-9662"}],"subject":[],"published":{"date-parts":[[2021,9,6]]}}}