title: Molecular testing for JAK2, MPL, and CALR in myeloproliferative neoplasms.
abstract: Polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF) are myeloproliferative neoplasms characterized by recurrent somatic mutations in JAK2, CALR, and MPL. This short review addresses (1) the spectrum of mutations seen in PV, ET, and PMF, (2) the emerging genotype-phenotype correlations, (3) the current role of molecular testing in disease classification and management, and (4) several important considerations for selecting an appropriate molecular test. In our view, sequential testing algorithms and simultaneous assessment of multiple mutations by next-generation sequencing are both valid approaches to testing. Am. J. Hematol. 91:1277-1280, 2016. © 2016 Wiley Periodicals, Inc.
authors.affiliation: Department of Pathology, Massachusetts General Hospital, Boston, Massachusetts.
authors.forename: Daniel
authors.initials: D
authors.lastname: Xia
authors.affiliation: Department of Pathology, Massachusetts General Hospital, Boston, Massachusetts.
authors.forename: Robert P
authors.initials: RP
authors.lastname: Hasserjian
mesh_terms: D037282:Calreticulin / Q000235:genetics; D056726:Genetic Association Studies; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics; D025202:Molecular Diagnostic Techniques / Q000379:methods*; D009154:Mutation; D009196:Myeloproliferative Disorders / Q000175:diagnosis* / Q000235:genetics*; D053628:Receptors, Thrombopoietin / Q000235:genetics
chemical_list: C576483:CALR protein, human; D037282:Calreticulin; D053628:Receptors, Thrombopoietin; C082218:MPL protein, human; C507924:JAK2 protein, human; D053614:Janus Kinase 2