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Updated: Mar 26, 2026

A Method for Screening and Validation of Resistant Mutations Against Kinase Inhibitors
Published on: December 7, 2014
JAK2 mutation and acute coronary syndrome complicated with stent thrombosis
Toru Inami1, Masahiro Okabe2, Masato Matsushita3
1Department of Cardiology, Nippon Medical School Chiba Hokusoh Hospital, 1715 Kamagari, Inzai, Chiba, 270-1694, Japan. t-inami@nms.ac.jp.
Insights
Acute coronary syndrome (ACS) can reveal hidden diseases like polycythemia vera. This case highlights the JAK2 V617F mutation
Area of Science:
- Cardiology
- Hematology
- Genetics
Background:
- Acute coronary syndrome (ACS) presents an opportunity to identify underlying conditions beyond traditional risk factors.
- The prothrombotic state in ACS increases stent thrombosis risk, particularly in ST-elevation myocardial infarction.
Observation:
- A 64-year-old male presented with chest pain, leading to intensive care unit admission.
- This patient experienced ACS with stent thrombosis.
Findings:
- Polycythemia vera, associated with the Janus kinase 2 (JAK2) V617F mutation, was identified as a potential underlying cause of ACS and stent thrombosis.
- The JAK2 V617F mutation may play a role in the pathophysiology of ACS in specific patient populations.
Implications:
- Recognizing polycythemia vera with JAK2 V617F mutation is crucial for cardiologists managing ACS patients.
- This case underscores the importance of investigating non-cardiovascular etiologies in ACS with stent thrombosis.
Abstract:
Acute coronary syndrome (ACS) could be a precious opportunity for patients to reveal concealed diseases other than conventional risk factors for ACS, such as hypertension, dyslipidemia, diabetes mellitus, etc. In the setting of ACS, the intracoronary and systemic prothrombotic environment has led to an increase in the risk of stent thrombosis of which mortality was higher among patients with ACS, especially with the highest mortality in patients with ST elevation myocardial infarction. The some specific conditions which were concealed beyond the cardiovascular pathophysiology except well-known risk factors for ACS and stent thrombosis might involve the onset of ACS. We describe a case of a 64-year-old man who was admitted to intensive care unit for chest pain. This case found the possibility that polycythemia vera with Janus kinase 2 (JAK2) V617F mutation might be a underlying disease of ACS with stent thrombosis, and highlighted the importance of recognizing polycythemia vera with JAK2 V617F mutation as concealed disease for cardiologists. We would like to report and review the relationship between ACS and polycythemia vera with JAK2 V617F mutation.
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