Kiem Dominik, Leisch Michael, Toth Ildiko, Mayer Marie-Christina, Pleyer Lisa, Greil Richard, Egle Alexander, Melchardt Thomas
Department of Internal Medicine III With Haematology, Medical Oncology, Haemostaseology, Infectiology and Rheumatology, Paracelsus Medical University, Salzburg, Austria.
Cancer Cluster Salzburg, Salzburg, Austria.
Eur J Haematol. 2025 Sep;115(3):299-302. doi: 10.1111/ejh.14445. Epub 2025 Jun 29.
VEXAS syndrome is caused by somatic mutations in the UBA1 gene and includes features of both autoinflammatory and myeloid diseases. Among several treatment options, JAK inhibitors have proven effective, especially ruxolitinib. However, anemia is often present in VEXAS syndrome. The novel JAK inhibitor momelotinib is approved for myelofibrosis with anemia. Here, we report of two patients within the Austrian Myeloid Registry of the Austrian Group Medical Tumor Therapy (AGMT), with newly diagnosed VEXAS syndrome and anemia, who were treated with momelotinib. Both patients experienced an improvement in anemia, a decrease in inflammation, and the treatment was well tolerated. VEXAS syndrome (acronym for: vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is an autoinflammatory disease caused by somatic mutations in the ubiquitin-like modifier activating enzyme 1 (UBA1) gene. Key clinical features comprise hematological as well as rheumatological, features. Associated hematological conditions include cytopenia, bone marrow failure, myelodysplastic syndrome, increased risk for thromboembolic events, and prominent vacuolization of myeloid and erythroid precursor cells in the bone marrow.
VEXAS综合征由UBA1基因的体细胞突变引起，兼具自身炎症性疾病和骨髓疾病的特征。在多种治疗选择中，JAK抑制剂已被证明有效，尤其是鲁索替尼。然而，VEXAS综合征患者常伴有贫血。新型JAK抑制剂莫洛替尼已获批用于治疗伴有贫血的骨髓纤维化。在此，我们报告奥地利肿瘤治疗集团（AGMT）奥地利骨髓登记处的两名新诊断为VEXAS综合征且伴有贫血的患者，他们接受了莫洛替尼治疗。两名患者的贫血症状均有改善，炎症减轻，且治疗耐受性良好。VEXAS综合征（Vacuoles、E1酶、X连锁、自身炎症性、体细胞的首字母缩写）是一种由泛素样修饰激活酶1（UBA1）基因的体细胞突变引起的自身炎症性疾病。主要临床特征包括血液学以及风湿病学特征。相关血液学病症包括血细胞减少、骨髓衰竭、骨髓增生异常综合征、血栓栓塞事件风险增加，以及骨髓中髓系和红系前体细胞显著空泡化。
