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.

Cancer Molecular Diagnostics St James's Hospital Dublin Ireland

Centre for Cancer Research and Cell Biology Queen's University Belfast UK

Départment de Cytologie Clinique Centre Hospitalier Universitaire de Nîmes Nîmes France

Department of Clinical Chemistry and Transfusion Medicine Institute of Biomedicine Sahlgrenska Academy University of Gothenburg Gothenburg Sweden

Department of Clinical Immunology and Biochemistry Vejle Hospital Vejle Denmark

Department of Haematology Belfast City Hospital Belfast UK

Department of Hematology Institute of Hematology and Blood Transfusion Prague Czech Republic

Department of Hematology Roskilde Hospital Roskilde Denmark

Department of Hematology University Hospital Bern Bern Switzerland

Inserm UMR89 CNRS UMR6299 Centre de Recherche en Cancérologie Nantes Angers Institut de Recherche en Santé de L'Université de Nantes Nantes France

Laboratoire d'Hématologie Centre Hospitalier Universitaire de Bordeaux Bordeaux France

Laboratoire d'Hématologie Centre Hospitalier Universitaire de Nantes Nantes France

Laboratory of Molecular Diagnostics Hungarian National Blood Transfusion Service Budapest Hungary

MLL Munich Leukemia Laboratory Munich Germany

Pathology Department Hospital del Mar Barcelona Spain

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