JAK2 V617F and MPL W515L/K Mutations in Korean Patients with Essential Thrombocythemia
- Authors
- Kim, HJ[Kim, Hee-Jung]; Jang, JH[Jang, Ja-Hyun]; Yoo, EH[Yoo, Eun-Hyung]; Kim, HJ[Kim, Hee-Jin]; Ki, CS[Ki, Chang-Seok]; Kim, JW[Kim, Jong-Won]; Kim, SH[Kim, Sun-Hee]
- Issue Date
- Oct-2010
- Publisher
- KOREAN SOC LABORATORY MEDICINE
- Keywords
- Essential thrombocythemia; mutation; JAK2; MPL; Korea
- Citation
- KOREAN JOURNAL OF LABORATORY MEDICINE, v.30, no.5, pp.474 - 476
- Indexed
- SCIE
SCOPUS
- Journal Title
- KOREAN JOURNAL OF LABORATORY MEDICINE
- Volume
- 30
- Number
- 5
- Start Page
- 474
- End Page
- 476
- URI
- https://scholarworks.bwise.kr/skku/handle/2021.sw.skku/73171
- DOI
- 10.3343/kjlm.2010.30.5.474
- ISSN
- 1598-6535
- 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. (Korean J Lab Med 2010;30:474-6)
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Collections - Medicine > Department of Medicine > 1. Journal Articles
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