Objectives: Since mutation is a rare driver gene mutation found in a small number of essential thrombocythemia (ET) patients, the clinical characteristics of patients with mutations and their association with thrombotic events have not yet been elucidated in Japan.
Methods: We enrolled 579 Japanese ET patients based on the diagnostic criteria of the WHO classification 2017 and compared clinical characteristics of -mutated patients ( = 22; 3.8%) to V617F-mutated ( = 299; 51.6%), -mutated ( = 144; 24.9%), and triple-negative (TN) ( = 114; 19.7%) patients.
Results: Thrombosis during follow up was observed in 4 out of 22 (18.2%) in the -mutated group, which was the highest among all driver gene mutation groups (V617F-mutated, 8.7%; -mutated, 3.5%; TN,1.8%). The and V617F-mutated groups had worse thrombosis-free survival (TFS) than the -mutated ( = 0.043) and TN groups ( = 0.006). Univariable analysis revealed that a history of thrombosis was a possible risk factor for thrombosis among -mutated patients (hazard ratio: 9.572, = 0.032).
Conclusions: -mutated ET patients should require more intensive management to prevent recurrence of thrombosis.
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