JAK2 V617F, MPL, and CALR Mutations in Korean Patients with Essential Thrombocythemia and Primary Myelofibrosis.
10.3346/jkms.2015.30.7.882
- Author:
Bo Hyun KIM
1
;
Young Uk CHO
;
Mi Hyun BAE
;
Seongsoo JANG
;
Eul Ju SEO
;
Hyun Sook CHI
;
Yunsuk CHOI
;
Dae Young KIM
;
Jung Hee LEE
;
Je Hwan LEE
;
Kyoo Hyung LEE
;
Young Mi PARK
;
Jong Keuk LEE
;
Chan Jeoung PARK
Author Information
1. Department of Laboratory Medicine, University of Ulsan, College of Medicine and Asan Medical Center, Seoul, Korea. yucho@amc.seoul.kr
- Publication Type:Original Article
- Keywords:
CALR;
JAK2 V617F;
MPL;
Thrombocythemia, Essential;
Primary Myelofibrosis
- MeSH:
Adult;
Aged;
Aged, 80 and over;
Calreticulin/*genetics;
Disease-Free Survival;
Female;
Gene Frequency;
Genetic Association Studies;
Humans;
Janus Kinase 2/*genetics;
Male;
Middle Aged;
Mutation/genetics;
Primary Myelofibrosis/*genetics/mortality;
Receptors, Thrombopoietin/*genetics;
Republic of Korea;
Thrombocythemia, Essential/*genetics/mortality;
Young Adult
- From:Journal of Korean Medical Science
2015;30(7):882-888
- CountryRepublic of Korea
- Language:English
-
Abstract:
Mutations in the calreticulin gene, CALR, have recently been discovered in subsets of patients with essential thrombocythemia (ET) or primary myelofibrosis (PMF). We investigated Korean patients with ET and PMF to determine the prevalence, and clinical and laboratory correlations of CALR/JAK2/MPL mutations. Among 84 ET patients, CALR mutations were detected in 23 (27.4%) and were associated with higher platelet counts (P=0.006) and lower leukocyte counts (P=0.035) than the JAK2 V617F mutation. Among 50 PMF patients, CALR mutations were detected in 11 (22.0%) and were also associated with higher platelet counts (P=0.035) and trended to a lower rate of cytogenetic abnormalities (P=0.059) than the JAK2 V617F mutation. By multivariate analysis, triple-negative status was associated with shorter overall survival (HR, 7.0; 95% CI, 1.6-31.1, P=0.01) and leukemia-free survival (HR, 6.3; 95% CI, 1.8-22.0, P=0.004) in patients with PMF. The type 1 mutation was the most common (61.1%) type among all patients with CALR mutations, and tended toward statistical predominance in PMF patients. All 3 mutations were mutually exclusive and were never detected in patients with other myeloid neoplasms showing thrombocytosis. CALR mutations characterize a distinct group of Korean ET and PMF patients. Triple-negative PMF patients in particular have an unfavorable prognosis, which supports the idea that triple-negative PMF is a molecularly high-risk disease.
