作者
Masayuki Umeda, Jing Ma, Benjamin J Huang, Kohei Hagiwara, Tamara Westover, Sherif Abdelhamed, Juan M Barajas, Melvin E Thomas III, 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 Leonti, Bengsheng Ju, John Easton, Huiyun Wu, Virginia Valentine, Marcus B Valentine, Yen-Chun Liu, Rhonda E Ries, Jenny L Smith, Evan Parganas, Ilaria Iacobucci, Ryan Hiltenbrand, Jonathan Miller, Jason R Myers, Evadnie Rampersaud, Delaram Rahbarinia, Michael Rusch, Gang Wu, Hiroto Inaba, Yi-Cheng Wang, Todd A Alonzo, James R Downing, Charles G Mullighan, Stanley Pounds, M Madan Babu, Jinghui Zhang, Jeffrey E Rubnitz, Soheil Meshinchi, Xiaotu Ma, Jeffery M Klco
发表日期
2022/5/5
期刊
Blood cancer discovery
卷号
3
期号
3
页码范围
194-207
出版商
American Association for Cancer Research
简介
The genetics of relapsed pediatric acute myeloid leukemia (AML) has yet to be comprehensively defined. Here, we present the spectrum of genomic alterations in 136 relapsed pediatric AMLs. We identified recurrent exon 13 tandem duplications (TD) in upstream binding transcription factor (UBTF) in 9% of relapsed AML cases. UBTF-TD AMLs commonly have normal karyotype or trisomy 8 with cooccurring WT1 mutations or FLT3-ITD but not other known oncogenic fusions. These UBTF-TD events are stable during disease progression and are present in the founding clone. In addition, we observed that UBTF-TD AMLs account for approximately 4% of all de novo pediatric AMLs, are less common in adults, and are associated with poor outcomes and MRD positivity. Expression of UBTF-TD in primary hematopoietic cells is sufficient to enhance serial clonogenic activity and to drive a similar …
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M Umeda, J Ma, BJ Huang, K Hagiwara, T Westover… - Blood cancer discovery, 2022