Intramedullary erythrophagocytosis in myelodysplastic syndrome with heterozygous U2AF1 Q157R variant

EJHaem Pub Date : 2025-02-07 DOI:10.1002/jha2.1084
Kritika Krishnamurthy, Aditi Shastri, Yanhua Wang
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Abstract

This report highlights a somewhat unique case of U2AF1 mutated myelodysplastic syndrome (MDS) with morphological evidence of increased intramedullary erythrophagocytosis, in the absence of obvious clinical signs of hemolysis. These findings merit investigation in a larger cohort of U2AF1 mutated MDS cases to further delineate the morphological spectrum of ineffective intramedullary hematopoiesis and nonimmune hemolysis, including features distinctive to S34 and Q157 variants.

Abstract Image

杂合U2AF1 Q157R变异骨髓增生异常综合征的髓内红细胞吞噬
本报告强调了一个有点独特的U2AF1突变骨髓增生异常综合征(MDS)的病例,形态学证据显示髓内红细胞增多,没有明显的溶血症状。这些发现值得在更大的U2AF1突变MDS病例队列中进行研究,以进一步描绘无效髓内造血和非免疫性溶血的形态学谱,包括S34和Q157变体特有的特征。
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