계명대학교 의학도서관 Repository

Calreticulin Exon 9 Mutations in Myeloproliferative Neoplasms

Metadata Downloads
Author(s)
하정숙
Alternative Author(s)
Ha, Jung Sook
Publication Year
2015
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.
Key Words: Calreticulin, JAK2, MPL, Myeloproliferative neoplasm
Department
Dept. of Laboratory Medicine (진단검사의학)
Publisher
School of Medicine
Citation
Annals of Laboratory Medicine, Vol.35(1) : 22-27, 2015
Type
Article
ISSN
2234-3806
DOI
10.3343/alm.2015.35.1.22
URI
http://kumel.medlib.dsmc.or.kr/handle/2015.oak/35007
Authorize & License
  • AuthorizeOpen
Files in This Item:

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.