{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,10]],"date-time":"2026-10-10T14:58:50Z","timestamp":1791644330746,"version":"4.3.4"},"reference-count":18,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2018,5,16]],"date-time":"2018-05-16T00:00:00Z","timestamp":1526428800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Br J Haematol"],"published-print":{"date-parts":[[2018,7]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>The <jats:italic>JAK2<\/jats:italic> V617F mutation is characteristic of most Philadelphia chromosome\u2010negative myeloproliferative neoplasms (MPNs) and occurs rarely in <jats:italic>de novo<\/jats:italic> acute myeloid leukaemia (AML). We sought to characterize AMLs that harbour this mutation and distinguish those that arise <jats:italic>de novo<\/jats:italic> (AML\u2010DN) from those that reflect transformation of an underlying MPN (AML\u2010MPN). Forty\u2010five patients with <jats:italic>JAK2<\/jats:italic> V617F\u2010mutated AML were identified; 15 were AML\u2010DN and 30 were AML\u2010MPN. AML\u2010MPN cases were more likely to have splenomegaly (<jats:italic>P<\/jats:italic>\u00a0=\u00a00\u00b702), MPN\u2010like megakaryocytes and higher mean <jats:italic>JAK2<\/jats:italic> V617F VAF at diagnosis (<jats:italic>P<\/jats:italic>\u00a0=\u00a00\u00b704). Mutations involving <jats:italic>TET2<\/jats:italic> were exclusively identified in AML\u2010DN patients. Mutations of genes affecting DNA methylation were more common in AML\u2010DN (<jats:italic>P<\/jats:italic>\u00a0&lt;\u00a00\u00b701). A complex karyotype was more frequent in AML\u2010MPN cases than in AML\u2010DN (<jats:italic>P<\/jats:italic>\u00a0&lt;\u00a00\u00b701), with AML\u2010DN more likely to display a normal karyotype (<jats:italic>P<\/jats:italic>\u00a0=\u00a00\u00b702). Bone marrow histology after recovery from induction chemotherapy in AML\u2010DN cases revealed no morphological evidence of any previously occult MPNs, while this was evident in most of the AML\u2010MPN specimens (<jats:italic>P<\/jats:italic>\u00a0&lt;\u00a00\u00b701). These findings in this largest study of <jats:italic>JAK2<\/jats:italic> V617F\u2010mutated AMLs indicate that AML\u2010DN is distinct from AML\u2010MPN.<\/jats:p>","DOI":"10.1111\/bjh.15276","type":"journal-article","created":{"date-parts":[[2018,5,16]],"date-time":"2018-05-16T13:07:39Z","timestamp":1526476059000},"page":"78-85","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":26,"title":["<i>JAK2<\/i> V617F\u2010positive acute myeloid leukaemia (AML): a comparison between <i>de novo<\/i> AML and secondary AML transformed from an underlying myeloproliferative neoplasm. A study from the Bone Marrow Pathology Group"],"prefix":"10.1111","volume":"182","author":[{"given":"Jason","family":"Aynardi","sequence":"first","affiliation":[{"name":"Department of Pathology and Laboratory Medicine University of Pennsylvania Philadelphia PA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9539-9461","authenticated-orcid":false,"given":"Rashmi","family":"Manur","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine University of Pennsylvania Philadelphia PA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul R.","family":"Hess","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine University of Pennsylvania Philadelphia PA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seble","family":"Chekol","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine University of Pennsylvania Philadelphia PA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer J. D.","family":"Morrissette","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine University of Pennsylvania Philadelphia PA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daria","family":"Babushok","sequence":"additional","affiliation":[{"name":"Department of Medicine Division of Hematology and Oncology University of Pennsylvania Philadelphia PA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"Hexner","sequence":"additional","affiliation":[{"name":"Department of Medicine Division of Hematology and Oncology University of Pennsylvania Philadelphia PA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heesun J.","family":"Rogers","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine Cleveland Clinic Cleveland OH USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric D.","family":"Hsi","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine Cleveland Clinic Cleveland OH USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"Margolskee","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine Weill Cornell Medicine New York NY USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Attilio","family":"Orazi","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine Weill Cornell Medicine New York NY USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Hasserjian","sequence":"additional","affiliation":[{"name":"Department of Pathology Massachusetts General Hospital Boston MA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adam","family":"Bagg","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine University 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