Molecular diagnostics of myeloproliferative neoplasms

Stephen E Langabeer, Hajnalka Andrikovics, Julia Asp, Beatriz Bellosillo, Serge Carillo, Karl Haslam, Lasse Kjaer, Eric Lippert, Olivier Mansier, Elisabeth Oppliger Leibundgut, Melanie J Percy, Naomi Porret, Lars Palmqvist, Jiri Schwarz, Mary F McMullin, Susanne Schnittger, Niels Pallisgaard, Sylvie Hermouet, MPN&MPNr-EuroNet

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49 Citations (Scopus)


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. While 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 is 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. 

Original languageEnglish
Pages (from-to)270-279
Number of pages10
JournalEuropean Journal of Haematology
Issue number4
Early online date07 May 2015
Publication statusPublished - Oct 2015

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