Calreticulin Exon 9 Mutations in Myeloproliferative Neoplasms.
- Author:
Jung Sook HA
1
;
Yu Kyung KIM
Author Information
- Publication Type:Original Article
- Keywords: Calreticulin; JAK2; MPL; Myeloproliferative neoplasm
- MeSH: Adolescent; Adult; Aged; Aged, 80 and over; Amino Acid Sequence; Base Sequence; Calreticulin/*genetics; DNA Mutational Analysis; Exons; Female; Humans; Janus Kinase 2/genetics; Leukocyte Count; Male; Middle Aged; Molecular Sequence Data; Mutation; Myeloproliferative Disorders/diagnosis/*genetics/pathology; Receptors, Thrombopoietin/genetics; Young Adult
- From:Annals of Laboratory Medicine 2015;35(1):22-27
- CountryRepublic of Korea
- Language:English
- 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.
