Molecular diagnostics of myeloproliferative neoplasms
Publisher DOI
PubMed ID
25951317
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.
Accepted for publication 30 April 2015 doi:10.1111/ejh.12578
(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
Date Issued
2015-10
Publication Type
Article
Subject(s)
Subjects
myeloproliferative neoplasms
•
polycythemia vera
•
essential thrombocythemia
•
primary myelofibrosis
•
molecular diagnostics
•
JAK2
•
MPL
•
CALR
Language(s)
en
Author(s)
Langabeer, Stephen E. | |
Andrikovics, Hajnalka | |
Asp, Julia | |
Bellosillo, Beatriz | |
Carillo, Serge | |
Haslam, Karl | |
Kjaer, Lasse | |
Lippert, Eric | |
Mansier, Olivier | |
Percy, Melanie J. | |
Palmqvist, Lars | |
Schwarz, Jiri | |
McMullin, Mary F. | |
Schnittger, Susanne | |
Pallisgaard, Niels | |
Hermouet, Sylvie |
Journal
European journal of haematology
Publisher
Wiley-Blackwell
ISSN
0902-4441
Access(Rights)
restricted