title: Molecular genetic evaluation of myeloproliferative neoplasms.
abstract: The classical myeloproliferative neoplasms (MPNs) consist of chronic myelogenous leukemia (CML) and the non-CML MPNs, polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF). Molecular testing plays a crucial role in each of these disease entities. In this review, we discuss the role and caveats of BCR-ABL1 fusion transcript evaluation in CML diagnosis and monitoring, as well as ABL1 kinase mutation testing in the setting of tyrosine kinase inhibitor resistance. We also focus on JAK2, MPL, and CALR mutations in PV, ET, and PMF.
authors.affiliation: Department of Pathology and Laboratory Medicine, Hospital of the University of Pennsylvania, Philadelphia, PA, USA.
authors.forename: E M
authors.initials: EM
authors.lastname: Azzato
authors.affiliation: Department of Pathology and Laboratory Medicine, Hospital of the University of Pennsylvania, Philadelphia, PA, USA.
authors.forename: A
authors.initials: A
authors.lastname: Bagg
mesh_terms: D016044:Fusion Proteins, bcr-abl / Q000235:genetics; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000175:diagnosis* / Q000235:genetics; D025202:Molecular Diagnostic Techniques / Q000379:methods*; D009154:Mutation; D011087:Polycythemia Vera / Q000175:diagnosis* / Q000235:genetics; D055728:Primary Myelofibrosis / Q000175:diagnosis* / Q000235:genetics; D053628:Receptors, Thrombopoietin / Q000235:genetics; D013920:Thrombocythemia, Essential / Q000175:diagnosis* / Q000235:genetics
chemical_list: C581634:BCR-ABL1 fusion protein, human; D053628:Receptors, Thrombopoietin; C082218:MPL protein, human; D016044:Fusion Proteins, bcr-abl; C507924:JAK2 protein, human; D053614:Janus Kinase 2
keywords: Molecular diagnostics; chronic myelogenous leukemia; essential thrombocythemia; molecular monitoring; myeloproliferative syndromes; polycythemia vera; primary myelofibrosis