JAK2 V617F and MPL W515L/K Mutations in Korean Patients with Essential Thrombocythemia.
10.3343/kjlm.2010.30.5.474
- Author:
Hee Jung KIM
1
;
Ja Hyun JANG
;
Eun Hyung YOO
;
Hee Jin KIM
;
Chang Seok KI
;
Jong Won KIM
;
Sun Hee KIM
Author Information
1. Department of Laboratory Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. heejinkim@skku.edu
- Publication Type:Brief Communication ; Research Support, Non-U.S. Gov't
- Keywords:
Essential thrombocythemia;
mutation;
JAK2;
MPL;
Korea
- MeSH:
Aged;
Amino Acid Substitution;
Asian Continental Ancestry Group/*genetics;
Exons;
Female;
Humans;
Janus Kinase 2/*genetics;
Male;
Middle Aged;
*Mutation;
Polycythemia Vera/genetics;
Receptors, Thrombopoietin/*genetics;
Republic of Korea;
Sequence Analysis, DNA;
Thrombocythemia, Essential/diagnosis/*genetics
- From:The Korean Journal of Laboratory Medicine
2010;30(5):474-476
- CountryRepublic of Korea
- Language:English
-
Abstract:
JAK2 V617F and MPL W515L/K mutations have been reported in approximately 50% and 5% of the patients with essential thrombocythemia (ET), respectively. We investigated the frequency of MPL W515L/K mutations in a series of consecutive patients with ET and post-essential thrombocythemia myelofibrosis (post-ET MF). The study subjects were 63 patients diagnosed either with ET (N=59) or post-ET MF (N=4) at our institution between June 2006 and February 2010. Among them, 35 (55.6%) had the JAK2 V617F mutation. MPL W515L/K mutations were detected by direct sequencing analyses of exon 10, and 2 patients were found to harbor the following MPL mutations: W515L in 1 patient with ET and W515K in 1 patient with post-ET MF. Neither of the patients had the JAK2 V617F mutation. The frequencies of the MPL W515L/K and JAK2 V617F-negative mutations in our subjects with ET/post-ET MF were 3.2% (2/63) and 7.1% (2/28), respectively. This is the first study to report the frequency of JAK2 V617F and MPL W515L/K mutations in Korean patients with ET/post-ET MF.
