Ann Lab Med.  2015 Jan;35(1):22-27. 10.3343/alm.2015.35.1.22.

Calreticulin Exon 9 Mutations in Myeloproliferative Neoplasms

Affiliations
  • 1Department of Laboratory Medicine, Keimyung University School of Medicine, Daegu, Korea. ksksmom@dsmc.or.kr
  • 2Department of Laboratory Medicine, Yeungnam University College of Medicine, Daegu, Korea.

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.

Keyword

Calreticulin; JAK2; MPL; Myeloproliferative neoplasm
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