体细胞
突变
髓样
免疫学
生物
人口
种系突变
造血
髓系白血病
遗传学
医学
癌症研究
肿瘤科
基因
干细胞
环境卫生
作者
Alexandra Veloso,Jan Cools
出处
期刊:Blood
[American Society of Hematology]
日期:2023-07-20
卷期号:142 (3): 215-217
标识
DOI:10.1182/blood.2023020639
摘要
between inflammatory environment and somatic mutations in myeloid genes, confirming previous findings. 4Mutations in TET2 and other myeloid genes appear to occur relatively more frequently than in DNMT3A in VEXAS syndrome compared with the clonal hematopoiesis observed in the general population.This finding, together with the analysis of clonal hierarchy, strongly suggests that these mutations occur as second hits preferentially selected in the highly inflammatory environment triggered by UBA1 mutation.The present study also indicates that there are relevant clinical effects of additional somatic mutations in VEXAS syndrome, although a limited time to follow up and the retrospective design warrant confirmation of the clinical outcomes analysis in larger data sets and prospective studies.
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