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Eur J Haematol. 2015 Oct;95(4):270-9. doi: 10.1111/ejh.12578. Epub 2015 May 18.

Molecular diagnostics of myeloproliferative neoplasms.

Author information

1
Cancer Molecular Diagnostics, St. James's Hospital, Dublin, Ireland.
2
Laboratory of Molecular Diagnostics, Hungarian National Blood Transfusion Service, Budapest, Hungary.
3
Department of Clinical Chemistry and Transfusion Medicine, Institute of Biomedicine, Sahlgrenska Academy University of Gothenburg, Gothenburg, Sweden.
4
Pathology Department, Hospital del Mar, Barcelona, Spain.
5
Départment de Cytologie Clinique, Centre Hospitalier Universitaire de Nîmes, Nîmes, France.
6
Department of Hematology, Roskilde Hospital, Roskilde, Denmark.
7
Laboratoire d'Hématologie, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France.
8
Department of Hematology, University Hospital Bern, Bern, Switzerland.
9
Department of Haematology, Belfast City Hospital, Belfast, UK.
10
Department of Hematology, Institute of Hematology and Blood Transfusion, Prague, Czech Republic.
11
Centre for Cancer Research and Cell Biology, Queen's University, Belfast, UK.
12
MLL Munich Leukemia Laboratory, Munich, Germany.
13
Department of Clinical Immunology and Biochemistry, Vejle Hospital, Vejle, Denmark.
14
Laboratoire d'Hématologie, Centre Hospitalier Universitaire de Nantes, Nantes, France.
15
Inserm UMR89/CNRS UMR6299, Centre de Recherche en Cancérologie Nantes-Angers, Institut de Recherche en Santé de L'Université de Nantes, Nantes, France.

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.

KEYWORDS:

CALR; JAK2; MPL; essential thrombocythemia; molecular diagnostics; myeloproliferative neoplasms; polycythemia vera; primary myelofibrosis

PMID:
25951317
DOI:
10.1111/ejh.12578
[Indexed for MEDLINE]

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