Relationship between DTA Mutations and Thromboembolism in Patients with Myeloproliferative Neoplasms
10.19746/j.cnki.issn1009-2137.2024.03.025
- VernacularTitle:骨髓增殖性肿瘤患者DTA突变与血栓栓塞关系研究
- Author:
Min WANG
1
;
Hong-Yu ZHAO
;
Da-Qi LI
;
Ping CHEN
Author Information
1. 山东第一医科大学附属中心医院血液科,山东济南 250013
- Keywords:
myeloproliferative neoplasms;
next-generation sequencing;
DTA mutations;
thromboembolism
- From:
Journal of Experimental Hematology
2024;32(3):819-824
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To analyze the DTA(DNMT3A,TET2,ASXL1)mutations in patients with myeloproliferative neoplasms(MPN),and preliminarily explore their correlation with thromboembolism.Methods:Clinical characteristics of 62 patients diagnosed de novo MPN at Central Hospital Affiliated to Shandong First Medical University from September 2016 to September 2022 were retrospectively analyzed.Next-generation sequencing was used to detect 35 MPN-related genes,and the DTA mutations in MPN patients and their relationship with thromboembolic events were analyzed.Results:75.8％(47/62)of the patients presented pathogenic non-driver mutations,and the mean number of pathogenic non-driver mutations per patient was 1.08.Among them,the most frequently mutated non-driver genes were TET2(38.7％,24/62),DNMT3A(9.7％,6/62)and ASXL1(6.5％,4/62).The presence of DTA gene mutations was 50％(31/62)in the total MPN patients,and mainly accompanied by driver mutations.The mutation rate of DTA in patients aged ≥60 years was significantly higher than that in patients＜60 years old(P=0.039).The incidence of thromboembolism in patients with DTA mutation was 58.1％(18/31),which was significantly higher than that in patients without DTA mutation(19.4％,6/31)(P=0.002).The TET2 gene mutation rate in MPN patients with thromboembolism was 66.7％(16/24),which was significantly higher than that in patients without thromboembolism(21.1％,8/38)(P=0.00).Conclusion:Patients with MPN have a higher incidence of DTA mutations,which are mainly accompanied by driver gene mutations.The incidence of thromboembolism in MPN patients with DTA mutations is higher than that in patients without DTA mutations.Especially,the elderly(≥60 years)essential thrombocythemia(ET)and polycythemia vera(PV)patients with TET2 mutation should be vigilant for thromboembolic events.
