Immune Deficiency - Cellular Therapy Program, National Cancer Institute, National Institute of Health, Building 10 CRC/Room 3-3150, 10 Center Drive MSC 1102, Bethesda, MD, 20892, USA.
Hematology Branch, National Heart, Lung, Blood Institute, National Institute of Health, Bethesda, MD, USA.
Ann Hematol. 2024 Nov;103(11):4427-4436. doi: 10.1007/s00277-024-05942-2. Epub 2024 Aug 22.
VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is a newly diagnosed syndrome comprising severe systemic inflammatory and hematological manifestations including myelodysplastic syndrome and plasma cell dyscrasia. Since its discovery four years ago, several groups have identified pleomorphic clinical phenotypes, but few effective medical therapies exist which include Janus Kinase (JAK) inhibitors, interleukin inhibitors (IL-1 and IL-6), and hypomethylating agents. Prospective trials are lacking at this time and most patients remain corticosteroid dependent. VEXAS has a high morbidity from frequent life threatening inflammatory symptoms and risk of progression to hematological malignancies and has an overall survival of 50% at 10 years. Allogeneic stem cell transplant (allo-HCT) is a curative option for this disease caused by somatic mutations in the UBA1 gene. Here we outline the role of allo-HCT in treating patients with VEXAS syndrome, highlighting the outcomes from several single-institution studies and case reports. Prospective trials will be required to precisely define the role of allo-HCT in the management of VEXAS syndrome.
VEXAS（空泡、E1 酶、X 连锁、自身炎症、体细胞）是一种新诊断的综合征，包括严重的全身炎症和血液学表现，包括骨髓增生异常综合征和浆细胞发育异常。自四年前发现以来，已有几个小组确定了多种形态的临床表型，但很少有有效的医学治疗方法，包括 Janus 激酶 (JAK) 抑制剂、白细胞介素抑制剂（IL-1 和 IL-6）和低甲基化剂。目前缺乏前瞻性试验，大多数患者仍依赖皮质类固醇。VEXAS 由于频繁危及生命的炎症症状和向血液系统恶性肿瘤进展的风险而发病率较高，10 年总生存率为 50%。同种异体干细胞移植（allo-HCT）是由 UBA1 基因突变引起的这种疾病的一种治愈方法。在这里，我们概述了 allo-HCT 在治疗 VEXAS 综合征患者中的作用，重点介绍了来自几个单机构研究和病例报告的结果。需要进行前瞻性试验来精确确定 allo-HCT 在 VEXAS 综合征管理中的作用。
