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转变UBA1的骨髓质疏松症候群的分子和临床表现

Maria Sirenko^1,2,3, Elsa Bernard², Maria Creignou⁴

¹Louis V. Gerstner, Jr. Graduate School of Biomedical Sciences, Memorial Sloan Kettering Cancer Center, New York, NY.

|April 30, 2024

概括

在2%的骨髓质疏松综合征 (MDS) 患者中发现了UBA1基因突变,通常与VEXAS综合征和炎症状况有关. 这表明UBA1查对于MDS管理至关重要.

科学领域:

遗传学是一个遗传学.
血液学血液学血液学
在瘤学瘤学.

背景情况:

UBA1基因突变定义了VEXAS综合征 (真空体,E1酶,X链,自身炎症,体质).
之前的报道表明,在骨髓发育综合征 (MDS) 患者中存在UBA1突变.

研究的目的:

确定UBA1突变在大型MDS队列中的流行率和临床关联.
评估UBA1突变在MDS中的诊断和管理影响.

主要方法:

在375名男性患者中进行数字滴滴PCR查.
在2027名MDS患者中针对UBA1测序.
对具有UBA1突变的患者进行了回顾性临床审查.

主要成果:

在7%的最初查的男性患者和1%的大型MDS队列中 (总共2%的可能/致病性) 发现了UBA1突变.
所有患有致病性UBA1变异的确诊患者都是男性; 63%的患者患有MDS与多系或单系形.
82%的UBA1突变病例表现出与VEXAS综合征相关的诊断或炎症症状,通常与TET2,DNMT3A,ASXL1或SF3B1.1的同时发生的突变有关.

结论:

在MDS患者的显著小组中存在UBA1突变,主要是男性.
临床表现经常与维克萨斯综合征或炎症状况重叠.
建议在MDS患者管理中进行系统的UBA1查.

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