title: The concomitant occurrence of JAK2V617F mutation and BCR/ABL transcript with phenotypic expression - an overlapping myeloproliferative disorder or two distinct diseases? - case report.
abstract: The concomitant occurrence of JAK2617F mutation and BCR/ABL translocation is a rare event. It is unclear if this is a result of the clonal evolution or a separately emergence of two clones and if it could lead to the progression to a more aggressive phase of the disease. We present the case of a 61-year-old man diagnosed and treated for polycythaemia vera for 7 years, which evolved into chronic myeloid leukemia BCR/ABL positive and with JAK2617F mutated clone, that became dominant after an effective treatment with Imatinib.
authors.affiliation: "Stefan Berceanu" Center of Haematology and Medullary Transplant, Fundeni Clinical Institute, Bucharest. iuliaursuleac@yahoo.com
authors.forename: I
authors.initials: I
authors.lastname: Ursuleac
authors.forename: Ac
authors.initials: A
authors.lastname: Colita
authors.forename: T
authors.initials: T
authors.lastname: Adam
authors.forename: C
authors.initials: C
authors.lastname: Jardan
authors.forename: A
authors.initials: A
authors.lastname: Ilea
authors.forename: D
authors.initials: D
authors.lastname: Coriu
mesh_terms: D016044:Fusion Proteins, bcr-abl / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D053614:Janus Kinase 2 / Q000235:genetics*; D007621:Karyotyping; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000175:diagnosis / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009196:Myeloproliferative Disorders / Q000201:enzymology* / Q000235:genetics*; D010641:Phenotype; D011087:Polycythemia Vera / Q000235:genetics; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D016896:Treatment Outcome
chemical_list: D012333:RNA, Messenger; D016044:Fusion Proteins, bcr-abl; C507924:JAK2 protein, human; D053614:Janus Kinase 2
keywords: BCR/ABL translocation and JAK2V617F mutation coexpression; Chronic myeloid leukemia; phenotypic expression; polycythemia vera