title: Impressive thrombocytosis evolving in a patient with a BCR-ABL positive CML in major molecular response during dasatinib treatment unmasks an additional JAK2V617F.
abstract: We present a case of a 42-year old female with the rare diagnosis of a myeloproliferative syndrome harboring both a BCR-ABL transclocation and a JAK2V617F mutation.Initially diagnosed with a CML, the patient underwent treatment with imatinib followed by dasatinib. Despite a major molecular response, the patient developed a thrombocytosis. Molecular analyses revealed a heterozygous JAK2V617F mutation, which was detected retrospectively in the bone marrow at the time of CML diagnosis.This case underlines the complexity of MPS pathogenesis. For the clinician, a JAK2 mutational screening should be performed in CML patients without hematological response in the absence of BCR-ABL.
authors.affiliation: Laboratory for Leukemia Diagnostics, Department of Internal Medicine III, University Hospital Munich - Campus Grosshadern, Munich, Germany. Friederike.Pastore@med.uni-muenchen.de.
authors.forename: Friederike
authors.initials: F
authors.lastname: Pastore
authors.forename: Stephanie
authors.initials: S
authors.lastname: Schneider
authors.forename: Oliver
authors.initials: O
authors.lastname: Christ
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Hiddemann
authors.forename: Karsten
authors.initials: K
authors.lastname: Spiekermann