title: Molecular diagnostics of myeloproliferative neoplasms.
abstract: Since the discovery of the JAK2 V617F mutation in the majority of the myeloproliferative neoplasms (MPN) of polycythemia vera, essential thrombocythemia and primary myelofibrosis ten years ago, further MPN-specific mutational events, notably in JAK2 exon 12, MPL exon 10 and CALR exon 9 have been identified. These discoveries have been rapidly incorporated into evolving molecular diagnostic algorithms. Whilst many of these mutations appear to have prognostic implications, establishing MPN diagnosis is of immediate clinical importance with selection, implementation and the continual evaluation of the appropriate laboratory methodology to achieve this diagnosis similarly vital. The advantages and limitations of these approaches in identifying and quantitating the common MPN-associated mutations are considered herein with particular regard to their clinical utility. The evolution of molecular diagnostic applications and platforms has occurred in parallel with the discovery of MPN-associated mutations, and it therefore appears likely that emerging technologies such as next-generation sequencing and digital PCR will in the future play an increasing role in the molecular diagnosis of MPN.
authors.affiliation: Cancer Molecular Diagnostics, St. James's Hospital, Dublin, Ireland.
authors.forename: Stephen E
authors.initials: SE
authors.lastname: Langabeer
authors.affiliation: Laboratory of Molecular Diagnostics, Hungarian National Blood Transfusion Service, Budapest, Hungary.
authors.forename: Hajnalka
authors.initials: H
authors.lastname: Andrikovics
authors.affiliation: Department of Clinical Chemistry and Transfusion Medicine, Institute of Biomedicine, Sahlgrenska Academy University of Gothenburg, Gothenburg, Sweden.
authors.forename: Julia
authors.initials: J
authors.lastname: Asp
authors.affiliation: Pathology Department, Hospital del Mar, Barcelona, Spain.
authors.forename: Beatriz
authors.initials: B
authors.lastname: Bellosillo
authors.affiliation: Départment de Cytologie Clinique, Centre Hospitalier Universitaire de Nîmes, Nîmes, France.
authors.forename: Serge
authors.initials: S
authors.lastname: Carillo
authors.affiliation: Cancer Molecular Diagnostics, St. James's Hospital, Dublin, Ireland.
authors.forename: Karl
authors.initials: K
authors.lastname: Haslam
authors.affiliation: Department of Hematology, Roskilde Hospital, Roskilde, Denmark.
authors.forename: Lasse
authors.initials: L
authors.lastname: Kjaer
authors.affiliation: Laboratoire d'Hématologie, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France.
authors.forename: Eric
authors.initials: E
authors.lastname: Lippert
authors.affiliation: Laboratoire d'Hématologie, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France.
authors.forename: Olivier
authors.initials: O
authors.lastname: Mansier
authors.affiliation: Department of Hematology, University Hospital Bern, Bern, Switzerland.
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Oppliger Leibundgut
authors.affiliation: Department of Haematology, Belfast City Hospital, Belfast, UK.
authors.forename: Melanie J
authors.initials: MJ
authors.lastname: Percy
authors.affiliation: Department of Hematology, University Hospital Bern, Bern, Switzerland.
authors.forename: Naomi
authors.initials: N
authors.lastname: Porret
authors.affiliation: Department of Clinical Chemistry and Transfusion Medicine, Institute of Biomedicine, Sahlgrenska Academy University of Gothenburg, Gothenburg, Sweden.
authors.forename: Lars
authors.initials: L
authors.lastname: Palmqvist
authors.affiliation: Department of Hematology, Institute of Hematology and Blood Transfusion, Prague, Czech Republic.
authors.forename: Jiri
authors.initials: J
authors.lastname: Schwarz
authors.affiliation: Centre for Cancer Research and Cell Biology, Queen's University, Belfast, UK.
authors.forename: Mary F
authors.initials: MF
authors.lastname: McMullin
authors.affiliation: MLL Munich Leukemia Laboratory, Munich, Germany.
authors.forename: Susanne
authors.initials: S
authors.lastname: Schnittger
authors.affiliation: Department of Clinical Immunology and Biochemistry, Vejle Hospital, Vejle, Denmark.
authors.forename: Niels
authors.initials: N
authors.lastname: Pallisgaard
authors.affiliation: Laboratoire d'Hématologie, Centre Hospitalier Universitaire de Nantes, Nantes, France.|Inserm UMR89/CNRS UMR6299, Centre de Recherche en Cancérologie Nantes-Angers, Institut de Recherche en Santé de L'Université de Nantes, Nantes, France.
authors.forename: Sylvie
authors.initials: S
authors.lastname: Hermouet
mesh_terms: D037282:Calreticulin / Q000235:genetics; D005091:Exons; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics / Q000378:metabolism; D025202:Molecular Diagnostic Techniques / Q000379:methods / Q000592:standards; D009154:Mutation; D009196:Myeloproliferative Disorders / Q000175:diagnosis* / Q000235:genetics* / Q000378:metabolism; D011785:Quality Assurance, Health Care; D053628:Receptors, Thrombopoietin / Q000235:genetics
chemical_list: D037282:Calreticulin; D053628:Receptors, Thrombopoietin; C082218:MPL protein, human; D053614:Janus Kinase 2
keywords: CALR; JAK2; MPL; essential thrombocythemia; molecular diagnostics; myeloproliferative neoplasms; polycythemia vera; primary myelofibrosis