骨髓祖细胞中的空泡:VEXAS 综合征及其他

Valentin Lacombe, Jérome Hadjadj, Sophie Georgin-Lavialle, Christian Lavigne, Franck Geneviève, Olivier Kosmider
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引用次数: 0

摘要

骨髓抽吸物中的髓系和红系祖细胞出现空泡是空泡、E1酶、X连锁、自身炎症、体细胞(VEXAS)综合征的一个主要特征。仅仅观察到空泡祖细胞并不是VEXAS综合征所特有的;在本观点中,我们指出了在这种情况下需要考虑的原因。尤其是在具有野生型UBA1、持续性炎症特征或骨髓增生异常综合征的个体中也可观察到空泡。然而,在骨髓祖细胞出现空泡化的情况下,有几条线索支持 VEXAS 综合征的诊断:空泡化祖细胞和每个细胞空泡的数量较多;空泡主要出现在早期祖细胞而非晚期祖细胞中;髓系和红系祖细胞均出现空泡化,其中髓系祖细胞占优势。根据这些观察结果提出的一些标准具有很好的诊断效果。不过,没有空泡化细胞或空泡化细胞比例较低并不妨碍进行 UBA1 基因测序。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Vacuoles in bone marrow progenitors: VEXAS syndrome and beyond

The presence of vacuoles in myeloid and erythroid progenitor cells in bone marrow aspirates is a key feature of vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome. The mere observation of vacuolated progenitor cells is not specific to VEXAS syndrome; in this Viewpoint, we point out the causes to be considered in this situation. Vacuoles, in particular, can be observed in individuals with wild-type UBA1 and with persistent inflammatory features or myelodysplastic syndromes. However, several clues support the diagnosis of VEXAS syndrome in the presence of vacuolated bone marrow progenitors: a high number of vacuolated progenitors and of vacuoles per cell, the predominance of vacuoles in early rather than late progenitors, and the vacuolisation of both myeloid and erythroid progenitors with predominance of myeloid ones. Some criteria derived from these observations have been proposed with great diagnostic performances. However, the absence or a low proportion of vacuolated cells should not prevent UBA1 gene sequencing.

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