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儿科MDS和AML中的并列重复:对临床查和诊断的影响

Juan M Barajas¹, Masayuki Umeda¹, Lisett Contreras¹

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

medRxiv : the preprint server for health sciences

|November 28, 2023

概括

新的研究结果显示,UBTF基因 (UBTF-TD) 中的双重重复是儿科骨髓瘤的独特亚型,包括急性骨髓白血病和骨髓质综合征,与特定的临床和病理特征相关.

科学领域:

血液学血液学血液学
遗传学遗传学是一个
在瘤学瘤学.

背景情况:

基因组研究在成人和儿科急性髓性白血病 (AML) 上游结合转录因子 (UBTF) 基因的第13个外形中发现了反复发生的串联重复 (TD).
这些UBTF变化定义了亚型,并与不良结果有关,特别是在儿童AML (~4.3%) 和60岁以下的成年人 (~3%).

研究的目的:

综合调查儿科骨髓瘤瘤的临床病理特征与UBTF外子13串联重复 (UBTF-TD).
分析与UBTF-TD相关的早期分子事件和转录资料.
通过检查罕见的外9重复,扩大对UBTF变化的理解.

主要方法:

分析了89例儿科AML和6例MDS病例,其中UBTF外子13 TD.
临床病理特征评估.
大量和单细胞基因组和转录组分析.

主要成果:

UBTF-TD骨髓瘤表现出失塑性特征,低骨髓弹性透和低白细胞计数.
UBTF-TD是一个早期的,与独特的转录签名相关的克隆事件.
获得FLT3或WT1突变与干细胞类程序相关.
罕见的UBTF外因子9重复模仿外因子13重复表型.

结论:

这项研究全面描述了儿科AML和MDS与UBTF-TD的特征,将其定义为一个独特的分子亚型.
关键的临床和病理特征将UBTF-TD与其他AML分子亚型区分开来.
这些发现扩大了儿科骨髓瘤中UBTF变化的范围.

关键词:

骨髓状新生体的神经元.儿童和成人急性髓性白血病.UBTF 协同重复协同重复

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