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Thrombotic Prediction Model Based on Epigenetic Regulator Mutations in Essential Thrombocythemia Patients Using
Pirun Saelue1, Patuma Sinthujaroen2, Supaporn Suwiwat2
1Hematology Unit, Division of Internal Medicine, Faculty of Medicine, Prince of Songkla University, Hatyai, Songkhla, Thailand.
Summary
Essential thrombocythemia (ET) patients with IDH1 mutations face higher thrombosis risks. A Prentice, William, and Peterson (PWP) gap-time model effectively predicts these thrombotic events in ET.
Area of Science:
- Hematology
- Oncology
- Genetics
Background:
- Essential thrombocythemia (ET) is characterized by megakaryocyte and platelet overproduction, increasing thrombosis risk.
- Identifying genetic factors influencing thrombosis in ET is crucial for risk stratification.
Purpose of the Study:
- To assess thrombotic risks associated with epigenetic regulator mutations in ET patients.
- To develop a predictive model for thrombosis in ET.
Main Methods:
- A cohort study of 96 ET patients (age >15) diagnosed between 2002-2019.
- Next-generation sequencing identified 25 targeted gene mutations, including driver and epigenetic regulator genes.
- Analysis of thrombotic events using five survival models, including the recurrent event method.
Main Results:
- 15 patients experienced 17 arterial thrombotic events over a median follow-up of 6.91 years.
- IDH1 mutations were associated with 100% thrombotic event frequency among epigenetic regulator mutations.
- IDH1 mutation emerged as a significant predictor of thrombotic risk in multivariate analysis.
Conclusions:
- The Prentice, William, and Peterson (PWP) gap-time model demonstrated strong predictive capability for thrombosis in ET.
- IDH1 mutation is a significant risk factor for thrombosis in ET, warranting further investigation in larger cohorts.
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