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. 2015 Jan;35(1):22-7.
doi: 10.3343/alm.2015.35.1.22. Epub 2014 Dec 8.

Calreticulin exon 9 mutations in myeloproliferative neoplasms

Jung-Sook Ha  1 , Yu-Kyung Kim  2
Affiliations

Calreticulin exon 9 mutations in myeloproliferative neoplasms

Jung-Sook Ha et al. Ann Lab Med. 2015 Jan.

Abstract

Background: Calreticulin (CALR) mutations were recently discovered in patients with myeloproliferative neoplasms (MPNs). We studied the frequency and type of CALR mutations and their hematological characteristics.

Methods: A total of 168 MPN patients (36 polycythemia vera [PV], 114 essential thrombocythemia [ET], and 18 primary myelofibrosis [PMF] cases) were included in the study. CALR mutation was analyzed by the direct sequencing method.

Results: CALR mutations were detected in 21.9% of ET and 16.7% of PMF patients, which accounted for 58.5% and 33.3% of ET and PMF patients without Janus kinase 2 (JAK2) or myeloproliferative leukemia virus oncogenes (MPL) mutations, respectively. A total of five types of mutation were detected, among which, L367fs(*)46 (53.6%) and K385fs(*)47 (35.7%) were found to be the most common. ET patients with CALR mutation had lower leukocyte counts and ages compared with JAK2-mutated ET patients.

Conclusion: Genotyping for CALR could be a useful diagnostic tool for JAK2-or MPL-negative ET or PMF patients. CALR mutation may be a distinct disease group, with different hematological characteristics than that of JAK2-positive patients.

Keywords: Calreticulin; JAK2; MPL; Myeloproliferative neoplasm.

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Conflict of interest statement

No potential conflicts of interest relevant to this article were reported.

Figures

Fig. 1
Fig. 1
The five types of calreticulin mutations identified in this study. The arrowheads indicate the points where insertion or deletion occurred. Square boxes represent nucleotide sequences that were deleted or inserted.
See this image and copyright information in PMC

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