Calreticulip Exon 9 Mutations in Myeloproliferative Neoplasms

Title
Calreticulip Exon 9 Mutations in Myeloproliferative Neoplasms
Author(s)
김유경하정숙[하정숙]
Keywords
ESSENTIAL THROMBOCYTHEMIA; SOMATIC MUTATIONS; CALR MUTATIONS; JAK2; MYELOFIBROSIS; ASXL1; MPL
Issue Date
201501
Publisher
KOREAN SOC LABORATORY MEDICINE
Citation
ANNALS OF LABORATORY MEDICINE, v.35, no.1, pp.22 - 27
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.
URI
http://hdl.handle.net/YU.REPOSITORY/33672http://dx.doi.org/10.3343/alm.2015.35.1.22
ISSN
2234-3806
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의과대학 > 진단검사의학교실 > Articles
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