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儿科骨髓瘤与UBTF并列重复:形态,免疫类型和临床特征

Mahsa Khanlari¹, Wei Wang², Yonghui Ni³

¹Department of Pathology, St. Jude Children's Research Hospital.

The American journal of surgical pathology

|January 6, 2025

概括

在UBTF基因中的并列重复与一种独特的髓状瘤亚型有关. 这些UBTF重复在急性髓性白血病和骨髓质综合征中具有特定的特征和类似的结果.

科学领域:

血液学血液学血液学
分子生物学分子生物学
在瘤学瘤学.

背景情况:

上游结合转录因子 (UBTF) 基因中的并列重复 (TD) 是罕见的复发性改变.
UBTF-TD越来越多地被认为是急性髓性白血病 (AML) 和骨髓发育综合征 (MDS) 的独特亚型.

研究的目的:

描述儿科骨髓瘤瘤与UBTF-TD的临床,形态和免疫类型特征.
调查MDS和AML中UBTF-TD之间的关系及其预后影响.

主要方法:

对27名患有UBTF-TD阳性髓瘤 (21 AML,6 MDS) 的儿科患者的临床数据,骨髓形态和免疫类型的分析.
在MDS和AML亚组之间比较血液学参数,爆发数和存活率.

主要成果:

UBTF-TD与细胞衰减,细胞大髓,红色球状腺增生和三线性质变形症有关.
失塑性特征包括在爆发和成熟的髓状细胞中凝聚起来的埃索诺菲尔细胞质.
免疫类型表现出骨髓或骨髓单细胞血统,具有可变的CD34 / CD117表达,缺乏一致的异常抗原表达.
患有MDS的患者的血清细胞数量较低,但总体存活率与AML患者相似.
三名MDS患者进展为AML.

结论:

带有UBTF-TD的MDS在预后上相当于带有UBTF-TD的AML,这表明相同的分子定义瘤的连续性.
形态和免疫类型的线索可以帮助选UBTF-TD在骨髓瘤中.

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