Molecular diagnostics of myeloproliferative neoplasms

Langabeer, Stephen E.; Andrikovics, Hajnalka; Asp, Julia; Bellosillo, Beatriz; Carillo, Serge; Haslam, Karl; Kjaer, Lasse; Lippert, Eric; Mansier, Olivier; Oppliger Leibundgut, Elisabeth; Percy, Melanie J.; Porret, Naomi; Palmqvist, Lars; Schwarz, Jiri; McMullin, Mary F.; Schnittger, Susanne; Pallisgaard, Niels; Hermouet, Sylvie (2015). Molecular diagnostics of myeloproliferative neoplasms. European journal of haematology, 95(4), pp. 270-279. Wiley-Blackwell 10.1111/ejh.12578

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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.
Accepted for publication 30 April 2015 doi:10.1111/ejh.12578

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