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Calreticulin Exon 9 Mutations in Myeloproliferative Neoplasms
2015; 35(1): 22-27
Article
Brief Communication
Korean J Lab Med 2010; 30(5): 474-476
Published online October 1, 2010 https://doi.org/10.3343/kjlm.2010.30.5.474
Copyright © Korean Society for Laboratory Medicine.
JAK2 V617F and MPL W515L/K Mutations in Korean Patients with Essential Thrombocythemia
Hee-Jung Kim, M.D.1, Ja-Hyun Jang, M.D.1, Eun-Hyung Yoo, M.D.1, Hee-Jin Kim, M.D.1,2, Chang-Seok Ki, M.D.1, Jong-Won Kim, M.D.1, and Sun-Hee Kim, M.D.1
Department of Laboratory Medicine1 and Genetics and Cardiovascular Center2, Samsung Medical Center, Sungkyunkwan
University School of Medicine, Seoul, Korea
Correspondence to: Hee-Jin Kim, M.D.
Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, 50 Irwon-dong, Gangnam-gu, Seoul 135-710, Korea
Tel : +82-2-3410-2702, Fax : +82-2-3410-2719
E-mail : heejinkim@skku.edu
*This study was supported by the Samsung Medical Center Clinical Research Development Program grant, #CRS-106-56-2.
Received: March 6, 2010; Revised: May 3, 2010; Accepted: July 12, 2010
This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
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.
Keywords: Essential thrombocythemia, mutation, JAK2, MPL, Korea