Whole transcriptome sequencing reveals a KMT2A-USP2 fusion in infant acute myeloid leukemia

Genes Chromosomes Cancer. 2019 Sep;58(9):669-672. doi: 10.1002/gcc.22751. Epub 2019 Apr 8.


Infant acute lymphoblastic leukemia with lysine (K)-specific methyltransferase 2A (KMT2A) rearrangements usually has a poor prognosis regardless of the fusion partners of KMT2A. However, the prognosis of pediatric acute myeloid leukemia (AML) with KMT2A rearrangements depends on its translocation partners. We herein report the case of a 9-month-old boy with a KMT2A-USP2 fusion, which required diagnosis by whole transcriptome sequencing after the failure of detection of known translocation partners by conventional screening approaches. As this first report of a patient with AML with a KMT2A-USP2 fusion illustrates, identification of the partners in all patients with KMT2A-rearranged AML is critical to elucidate the outcomes associated with specific rearrangements and to develop appropriate treatment strategies. Moreover, development of additional methods to detect specific translocation partners of KMT2A and leukemia-specific targeting drugs is important to improve further the outcomes of KMT2A-rearranged AML.

Keywords: KMT2A; USP2; RNA sequencing; infant AML.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Endopeptidases / genetics*
  • Histone-Lysine N-Methyltransferase / genetics*
  • Humans
  • Infant
  • Leukemia, Myeloid, Acute / genetics*
  • Leukemia, Myeloid, Acute / pathology
  • Male
  • Myeloid-Lymphoid Leukemia Protein / genetics*
  • Oncogene Fusion*
  • Transcriptome*
  • Ubiquitin Thiolesterase


  • KMT2A protein, human
  • Myeloid-Lymphoid Leukemia Protein
  • Histone-Lysine N-Methyltransferase
  • Endopeptidases
  • USP2 protein, human
  • Ubiquitin Thiolesterase