Identification of novel pathogenic gene mutations in pediatric acute myeloid leukemia by whole-exome resequencing

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  • SHIBA Norio
    Department of Pediatrics, Gunma University Graduate School of Medicine

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  • 小児急性骨髄性白血病における全エクソン解析による新規原因遺伝子の同定
  • ショウニ キュウセイ コツズイセイ ハッケツビョウ ニ オケル ゼン エクソン カイセキ ニ ヨル シンキ ゲンイン イデンシ ノ ドウテイ

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A new class of gene mutations, identified in the pathogenesis of adult acute myeloid leukemia (AML), includes DNMT3A, IDH1/2, TET2 and EZH2. However, these mutations are rare in pediatric AML cases, indicating that pathogeneses differ between adult and pediatric forms of AML. Meanwhile, the recent development of massively parallel sequencing technologies has provided a new opportunity to discover genetic changes across entire genomes or proteincoding sequences. In order to reveal a complete registry of gene mutations, we performed whole exome resequencing of paired tumor-normal specimens from 19 pediatric AML cases using Illumina HiSeq 2000. In total, 80 somatic mutations or 4.2 mutations per sample were identified. Many of the recurrent mutations identified in this study involved previously reported targets in AML, such as FLT3, CEBPA, KIT, CBL, NRAS, WT1 and EZH2. On the other hand, several genes were newly identified in the current study, including BCORL1 and major cohesin components such as SMC3 and RAD21. Whole exome resequencing revealed a complex array of gene mutations in pediatric AML genomes. Our results indicate that a subset of pediatric AML represents a discrete entity that could be discriminated from its adult counterpart, in terms of the spectrum of gene mutations.

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  • Rinsho Ketsueki

    Rinsho Ketsueki 56 (12), 2419-2425, 2015

    The Japanese Society of Hematology

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