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Abstract：
The VEXAS syndrome, a genetically defined autoimmune disease, associated with various hematological neoplasms has been attracting growing attention since its initial description in 2020. While various therapeutic strategies have been explored in case studies, the optimal treatment strategy is still under investigation and allogeneic cell transplantation is considered the only curative treatment. Here, we describe 2 patients who achieved complete molecular remission of the underlying UBA1 mutant clone outside the context of allogeneic HCT. Both patients received treatment with the hypomethylating agent azacitidine, and deep molecular remission triggered treatment de-escalation and even cessation with sustained molecular remission in one of them. Prospective studies are necessary to clarify which VEXAS patients will benefit most from hypomethylating therapy and to understand the variability in the response to different treatment strategies.
摘要：
VEXAS综合征,遗传定义的自身免疫性疾病，自2020年首次描述以来，与各种血液肿瘤相关的疾病引起了越来越多的关注。虽然在案例研究中已经探索了各种治疗策略，最佳治疗策略仍在研究中，异基因细胞移植被认为是唯一的治愈性治疗方法。这里,我们描述了2例患者,这些患者在同种异体HCT的情况下实现了基础UBA1突变克隆的分子完全缓解.两名患者均接受低甲基化剂阿扎胞苷治疗，深度分子缓解引发治疗降级甚至停止，其中之一是持续的分子缓解。有必要进行前瞻性研究，以阐明哪些VEXAS患者将从低甲基化治疗中受益最大，并了解对不同治疗策略的反应差异。
