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Spectrum and clinical characteristics relevance of gene mutations in Chinese pediatric acute lymphoblastic leukemia
  • +13
  • Diying Shen,
  • Lixia Liu,
  • Xiaojun Xu,
  • Hua Song,
  • Jing-Ying Zhang,
  • Weiqun Xu,
  • Fenying Zhao,
  • Juan Liang,
  • Chan Liao,
  • Yan Wang,
  • Tian Xia,
  • Chengcheng Wang,
  • Fen Lou,
  • Shanbo Cao,
  • Jiayue Qin,
  • Yongmin Tang
Diying Shen
Zhejiang University

Corresponding Author:[email protected]

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Lixia Liu
Acornmed Biotechnology Co., Ltd.
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Xiaojun Xu
Zhejiang University
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Hua Song
Zhejiang University
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Jing-Ying Zhang
Zhejiang University
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Weiqun Xu
Zhejiang University
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Fenying Zhao
Zhejiang University
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Juan Liang
Zhejiang University
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Chan Liao
Zhejiang University
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Yan Wang
Zhejiang University
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Tian Xia
Zhejiang University
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Chengcheng Wang
Acornmed Biotechnology Co., Ltd.
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Fen Lou
Acornmed Biotechnology Co., Ltd
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Shanbo Cao
Acornmed Biotechnology Co., Ltd.
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Jiayue Qin
Acornmed Biotechnology Co., Ltd
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Yongmin Tang
Zhejiang University
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Abstract

Purpose:the 5-year survival rate of children with acute lymphoblastic leukemia (ALL) is 85–90%, with a 10–15% rate of treatment failure. Thus, an in-depth understanding of the biological characteristics of these patients is essential. Approximately 30% of pediatric B cell precursor (BCP)-ALL patients remain uncharacterized by the genetic analyses at the time of diagnosis. The present study aimed to characterize the spectrum and clinical relevance of recurrent driver gene mutations in a large single-center cohort of pediatric ALL. Methods:we identified the spectrum of somatic mutations in 219 pediatric ALL by next-generation sequencing and analyzed the correlation with the clinical data. Results: a total of 381 gene mutations, including SNVS and InDels, were identified in 66 different genes in 152/219 patients. Conclusion: this study depicted the specific genomic landscape of Chinese pediatric ALL and revealed the relevance between mutational characteristics and clinical features of Chinese pediatric ALL.