Emergence of therapy-unrelated CML on a background of BCR-ABL-negative JAK2V617F-positive chronic idiopathic myelofibrosis.
We report the emergence of a chronic myeloid leukaemia (CML) during the course of a JAK2V617F-positive chronic idiopathic myelofibrosis (CIMF) in the absence of any myelosuppressive treatment. Although a response to imatinib was observed, the underlying myelofibrosis persisted after treatment and hydroxyurea was finally added to control the persistent thrombocytosis. Such rare patients with co-existing BCR-ABL translocation and JAK2V617F mutation must be identified in view of the possibility of targeted therapies. Moreover, the detection of BCR-ABL translocation appears to be crucial especially in the case of treated CIMF with an atypical course to identify CML before acute transformation.
Jallades
Laurent
L
Laboratoire d'Hématologie, Centre Hospitalier Lyon Sud, Pierre Bénite, France.
Hayette
Sandrine
S
Tigaud
Isabelle
I
Johnston
Anna
A
Coiffier
Bertrand
B
Magaud
Jean-Pierre
JP
Ffrench
Martine
M
D019943:Amino Acid Substitution; D002908:Chronic Disease; D016044:Fusion Proteins, bcr-abl / Q000235:genetics; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics*; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000150:complications / Q000175:diagnosis*; D008297:Male; D008875:Middle Aged; D017354:Point Mutation; D055728:Primary Myelofibrosis / Q000150:complications* / Q000175:diagnosis / Q000188:drug therapy; D012333:RNA, Messenger / Q000032:analysis
D012333:RNA, Messenger; D016044:Fusion Proteins, bcr-abl; C507924:JAK2 protein, human; D053614:Janus Kinase 2