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Molecular diagnostics of myeloproliferative neoplasms
Author(s) -
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
Publication year - 2015
Publication title -
european journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 84
eISSN - 1600-0609
pISSN - 0902-4441
DOI - 10.1111/ejh.12578
Subject(s) - essential thrombocythemia , myelofibrosis , polycythemia vera , molecular diagnostics , exon , myeloproliferative disorders , mutation , biology , digital polymerase chain reaction , computational biology , bioinformatics , genetics , medicine , polymerase chain reaction , gene , immunology , bone marrow
Since the discovery of the JAK 2 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 JAK 2 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 .