Integrated Genomic Analysis Identifies UBTF Tandem Duplications as a Recurrent Lesion in Pediatric Acute Myeloid Leukemia

综合基因组分析确定 UBTF 串联重复是儿童急性髓系白血病的复发性病变

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作者:Masayuki Umeda #, Jing Ma #, Benjamin J Huang, Kohei Hagiwara, Tamara Westover, Sherif Abdelhamed, Juan M Barajas, Melvin E Thomas, Michael P Walsh, Guangchun Song, Liqing Tian, Yanling Liu, Xiaolong Chen, Pandurang Kolekar, Quang Tran, Scott G Foy, Jamie L Maciaszek, Andrew B Kleist, Amanda R Leont

Significance

We defined the spectrum of mutations in relapsed pediatric AML and identified UBTF-TDs as a new recurrent genetic alteration. These duplications are more common in children and define a group of AMLs with intermediate-risk cytogenetic abnormalities, FLT3-ITD and WT1 alterations, and are associated with poor outcomes. See related commentary by Hasserjian and Nardi, p. 173. This article is highlighted in the In This Issue feature, p. 171.

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