基因突变可能是日本原发性血小板增多症患者血栓形成的一个危险因素。

gene mutation is a possible risk factor for thrombosis in patients with essential thrombocythemia in Japan.

机构信息

Department of Hematology, Juntendo University Graduate School of Medicine, Tokyo, Japan.

Department of Hematology, Tottori Prefectural Central Hospital, Tottori City, Japan.

出版信息

Hematology. 2023 Dec;28(1):2229131. doi: 10.1080/16078454.2023.2229131.

DOI:10.1080/16078454.2023.2229131

PMID:37378567

Abstract

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.

摘要

目的

由于突变是少数原发性血小板增多症（ET）患者中发现的罕见驱动基因突变，因此在日本，突变患者的临床特征及其与血栓事件的关系尚未阐明。

方法

我们根据 2017 年 WHO 分类的诊断标准纳入了 579 例日本 ET 患者，并比较了突变患者（ = 22；3.8%）与 V617F 突变（ = 299；51.6%）、突变（ = 144；24.9%）和三阴性（TN）（ = 114；19.7%）患者的临床特征。

结果

在随访期间，突变组中有 4 例（18.2%）发生血栓，在所有驱动基因突变组中发生率最高（V617F 突变，8.7%；突变，3.5%；TN，1.8%）。突变组和 V617F 突变组的无血栓生存（TFS）均较突变组（ = 0.043）和 TN 组（ = 0.006）差。单变量分析显示，血栓病史是突变患者发生血栓的可能危险因素（风险比：9.572， = 0.032）。