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

Item Type:

Journal Article (Review Article)

Division/Institute:

04 Faculty of Medicine > Department of Haematology, Oncology, Infectious Diseases, Laboratory Medicine and Hospital Pharmacy (DOLS) > Clinic of Haematology and Central Haematological Laboratory
04 Faculty of Medicine > Pre-clinic Human Medicine > BioMedical Research (DBMR) > Unit Childrens Hospital > Forschungsgruppe Hämatologie (Erwachsene)

UniBE Contributor:

Oppliger Leibundgut, Elisabeth and Porret, Naomi

Subjects:

600 Technology > 610 Medicine & health

ISSN:

0902-4441

Publisher:

Wiley-Blackwell

Language:

English

Submitter:

Verena Zwahlen

Date Deposited:

23 Mar 2016 11:10

Last Modified:

23 Mar 2016 11:10

Publisher DOI:

10.1111/ejh.12578

PubMed ID:

25951317

Uncontrolled Keywords:

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

BORIS DOI:

10.7892/boris.78703

URI:

https://boris.unibe.ch/id/eprint/78703

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