[与 VEXAS 综合征相关的 MDS 的临床和遗传特征]。

Hiroyoshi Kunimoto
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引用次数: 0

摘要

VEXAS 综合征是一种新的疾病实体,其特征是血细胞中出现胞浆空泡、X 连锁自身炎症症状以及编码 E1 泛素激活酶的 UBA1 的体细胞变异。大约30-50%的VEXAS综合征患者同时患有MDS。我们和其他人最近分析了与VEXAS综合征相关的MDS的临床和遗传特征,发现这些病例大多被归入低风险亚组,其骨髓造血干细胞百分比较低。与传统的 MDS 相比,与 VEXAS 综合征相关的 MDS 往往涉及较少的基因和较低风险的基因改变。此外,与VEXAS综合征相关的MDS患者在治疗前有活跃的炎症,其贫血往往对类固醇反应良好。在这篇综述中,我们将与其他人一起介绍我们的最新研究成果,重点关注 VEXAS 综合征这一新的疾病实体和病理生理学以及相关 MDS 的临床/遗传学特征。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
[Clinical and genetic features of MDS associated with VEXAS syndrome].

VEXAS syndrome is a new disease entity characterized by the presence of cytoplasmic vacuoles in blood cells, X-linked autoinflammatory symptoms, and somatic variants in UBA1, which encodes an E1 ubiquitin-activating enzyme. Around 30-50% of VEXAS syndrome patients have concurrent MDS. We and others have recently analyzed clinical and genetic features of MDS associated with VEXAS syndrome and found that most of these cases are categorized in the low-risk subgroup with low bone marrow blast percentages. MDS associated with VEXAS syndrome tended to involve a smaller number of genes and lower-risk genetic alterations than classical MDS. In addition, anemia in MDS associated with VEXAS syndrome with active inflammation before treatment tended to respond well to steroids. In this review, we will present our recent findings together with others, focusing on the new disease entity and pathophysiology of VEXAS syndrome and clinical/genetic features of associated MDS.

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