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A Method for Screening and Validation of Resistant Mutations Against Kinase Inhibitors
Published on: December 7, 2014
JAK2 mutations in Asian patients with essential thrombocythaemia
G-C Wong1, G L S Kam, E S C Koay
1Department of Haematology, Singapore General Hospital, Singapore. wong.gee.chuan@sgh.com.sg
Internal Medicine Journal
|March 11, 2010
Summary
The Janus kinase 2 (JAK2) mutation was found in 34% of Asian patients with essential thrombocythaemia (ET). JAK2-mutated ET patients were more likely to have high-risk disease, indicating its role in disease progression.
Area of Science:
- Hematology
- Oncology
- Genetics
Background:
- The JAK2V617F mutation is prevalent in chronic myeloproliferative disorders.
- Prevalence in European/US essential thrombocythaemia (ET) patients ranges from 23-57%.
Purpose of the Study:
- To determine the prevalence of JAK2 mutations in Asian ET patients.
- To examine the disease profile and risk stratification of JAK2-mutated ET patients in this population.
Main Methods:
- Retrospective analysis of registry data and prospective recruitment of Asian ET patients.
- JAK2 mutation status determined from blood samples.
- Clinical data, including demographics and disease profiles at diagnosis, were recorded.
Main Results:
- JAK2 mutation detected in 34% (35/102) of Asian ET patients.
- Females were more likely to harbor the JAK2 mutation (P=0.031).
- JAK2-mutated patients were older, had higher leucocyte counts, and presented with high-risk disease at diagnosis.
Conclusions:
- The prevalence of JAK2 mutations in Asian ET patients is 34%.
- JAK2 mutation is associated with high-risk disease in this cohort.
- Further research is needed to clarify the role of JAK2 mutations in ET risk stratification and compare phenotypes across different populations.
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