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Updated: Jun 8, 2026
A Method for Screening and Validation of Resistant Mutations Against Kinase Inhibitors
Published on: December 7, 2014
JAK2 V617F and MPL W515L/K mutations in Korean patients with essential thrombocythemia
Hee-Jung Kim1, Ja-Hyun Jang, Eun-Hyung Yoo
1Department of Laboratory Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. heejinkim@skku.edu
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. Thus, the frequency of MPL W515L/K mutation in Korean patients with ET/post-ETMF was 3.2% (2/63) and that in JAK2 V617F-negative ET/post-ET MF was 7.1% (2/28) [corrected]. 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.
Insights
The JAK2 V617F mutation was found in 55.6% of Korean patients with essential thrombocythemia (ET) or post-ET myelofibrosis (MF). MPL W515L/K mutations occurred in 3.2% of these patients, marking the first report in this population.
Area of Science:
- Hematology
- Oncology
- Molecular Biology
Background:
- Essential thrombocythemia (ET) and post-ET myelofibrosis (MF) are myeloproliferative neoplasms.
- JAK2 V617F and MPL mutations are key genetic drivers in these conditions.
- Limited data exists on mutation frequencies in Korean populations.
Purpose of the Study:
- To determine the frequency of JAK2 V617F and MPL W515L/K mutations in Korean patients with ET and post-ET MF.
- To provide the first report on these mutation frequencies in this specific demographic.
Main Methods:
- Direct sequencing analysis of exon 10 of the MPL gene.
- Testing for JAK2 V617F mutation.
- Retrospective analysis of 63 Korean patients diagnosed with ET or post-ET MF.
Main Results:
- JAK2 V617F mutation was detected in 35 (55.6%) patients.
- MPL W515L/K mutations were identified in 2 patients (3.2% overall frequency).
- The frequency of MPL W515L/K mutations in JAK2 V617F-negative cases was 7.1% (2/28).
Conclusions:
- JAK2 V617F is the predominant mutation in Korean ET/post-ET MF patients.
- MPL W515L/K mutations are infrequent but present in this population.
- This study establishes baseline mutation frequencies for JAK2 and MPL in Korean patients with ET/post-ET MF.
