Huang Huijun, Zhang Wenjun, Cai Wenyu, Liu Jinqin, Wang Huijun, Qin Tiejun, Xu Zefeng, Li Bing, Qu Shiqiang, Pan Lijuan, Huang Gang, Gale Robert Peter, Xiao Zhijian
State Key Laboratory of Experimental Haematology, Institute of Haematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin, China.
Hematologic Pathology Center, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin, China.
Exp Hematol Oncol. 2021 Mar 19;10(1):23. doi: 10.1186/s40164-021-00217-2.
VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a newly-described adult-onset inflammatory syndrome characterized by vacuoles in myeloid and erythroid precursor cells and somatic mutations affecting methionine-41 (p.Met41) in UBA1. The VEXAS syndrome often overlaps with myelodysplastic syndromes (MDS) with autoimmune disorders (AD). By screening the UBA1 gene sequences derived from MDS patients with AD from our center, we identified one patient with a p.Met41Leu missense mutation in UBA1, who should have been diagnosed as MDS comorbid with VEXAS syndrome. This patient respond poorly to immune suppressive drugs. Patients with MDS and AD who have characteristic vacuoles in myeloid and erythroid precursor cells should be screened for UBA1 mutation, these patients are likely to have VEXAS syndrome and unlikely to improve with immunosuppressive drugs and should be considered for other alternative therapies.
VEXAS（空泡、E1酶、X连锁、自身炎症性、体细胞）综合征是一种新描述的成人起病的炎症综合征，其特征为髓系和红系前体细胞出现空泡以及影响UBA1基因中甲硫氨酸41（p.Met41）位点的体细胞突变。VEXAS综合征常与伴有自身免疫性疾病（AD）的骨髓增生异常综合征（MDS）重叠。通过筛查我们中心患有AD的MDS患者的UBA1基因序列，我们鉴定出1例UBA1基因存在p.Met41Leu错义突变的患者，该患者本应被诊断为合并VEXAS综合征的MDS。该患者对免疫抑制药物反应不佳。对于患有MDS和AD且髓系和红系前体细胞中有特征性空泡的患者，应筛查UBA1突变，这些患者可能患有VEXAS综合征，使用免疫抑制药物不太可能改善，应考虑其他替代疗法。
