title: Wild-type JAK2 secondary acute erythroleukemia developing after JAK2-V617F-mutated primary myelofibrosis.
abstract: A 54-year-old female patient developed acute erythroleukemia after an 8-year course of primary myelofibrosis. The latter harbors the JAK2-V617F mutation and was treated with hydroxyurea and anagrelide. A bone marrow trephine biopsy disclosed 2 morphologically distinct areas of chronic primary myelofibrosis and acute erythroleukemia. Microdissection and a separate molecular pathological analysis was performed. Although the activating JAK2-V617F mutation was not maintained in blasts of acute erythroleukemia, it was detectable in the chronic phase of primary myelofibrosis, indicating that this mutation did not play a role in the leukemic transformation of erythroid cells.
authors.affiliation: Institut für Pathologie, Universitätsmedizin der Johannes Gutenberg Universität, Mainz, Deutschland. kreft@pathologie.klinik.uni-mainz.de
authors.forename: Andreas
authors.initials: A
authors.lastname: Kreft
authors.forename: Erik
authors.initials: E
authors.lastname: Springer
authors.forename: Daniel B
authors.initials: DB
authors.lastname: Lipka
authors.forename: Charles J
authors.initials: CJ
authors.lastname: Kirkpatrick
mesh_terms: D002471:Cell Transformation, Neoplastic / Q000235:genetics; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics*; D004915:Leukemia, Erythroblastic, Acute / Q000209:etiology / Q000235:genetics*; D008875:Middle Aged; D055728:Primary Myelofibrosis / Q000150:complications* / Q000235:genetics*
chemical_list: D053614:Janus Kinase 2