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Clin Chim Acta. 2016 Nov 1;462:166-173. doi: 10.1016/j.cca.2016.09.023. Epub 2016 Sep 29.

Simultaneous screening for JAK2 and calreticulin gene mutations in myeloproliferative neoplasms with high resolution melting.

Author information

1
Department of Laboratory Medicine, Nagasaki University Hospital, Nagasaki, Japan.
2
Department of Laboratory Medicine, Nagasaki University Hospital, Nagasaki, Japan; Department of Laboratory Medicine, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan. Electronic address: hhase@nagasaki-u.ac.jp.
3
Nagasaki Goto Chuo Hospital, Nagasaki, Japan.
4
Department of Hematology, Nagasaki University Hospital, Nagasaki, Japan.
5
Department of Hematology, Nagasaki University Hospital, Nagasaki, Japan; Atomic Bomb Disease and Hibakusha Medicine Unit, Atomic Bomb Disease Institute, Nagasaki University, Japan.
6
Department of Laboratory Medicine, Nagasaki University Hospital, Nagasaki, Japan; Department of Laboratory Medicine, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.

Abstract

INTRODUCTION:

Recently, novel calreticulin (CALR) mutations were discovered in Janus kinase 2 (JAK2) non-mutated myelofibrosis (PMF) and essential thrombocythemia (ET) cases, with a frequency of 60-80%. We examined clinical correlations and CALR mutation frequency in our myeloproliferative neoplasms (MPN) cases, and introduce an effective test method for use in clinical practice.

METHODS:

We examined 177 samples previously investigated for the JAK2 mutation for differential diagnosis of MPN. JAK2 and CALR mutations were analyzed using melting curve analysis and microchip electrophoresis, respectively. Next, we constructed a test for simultaneous screening of the JAK2 and CALR mutations utilizing high resolution melting (HRM).

RESULTS:

Among 99 MPN cases, 60 possessed the JAK2 mutation alone. Of the 39 MPN cases without the JAK2 mutation, 14 were positive for the CALR mutation, all of which were ET. Using our novel screening test for the JAK2 and CALR mutations by HRM, the concordance rate of conventional analysis with HRM was 96% for the JAK2 mutation and 95% for the CALR mutation.

CONCLUSION:

Our novel simultaneous screening test for the JAK2 and CALR gene mutations with HRM is useful for diagnosis of MPN.

KEYWORDS:

Calreticulin; High resolution melting; Janus kinase 2 V617F; Myeloproliferative neoplasms; Screening test

PMID:
27693531
DOI:
10.1016/j.cca.2016.09.023
[Indexed for MEDLINE]
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