A case of KMT2A-SEPT9 fusion-associated acute megakaryoblastic leukemia

Cold Spring Harb Mol Case Stud. 2018 Dec 17;4(6):a003426. doi: 10.1101/mcs.a003426. Print 2018 Dec.


Acute megakaryoblastic leukemia (AMKL) constitutes ∼5%-15% of cases of non-Down syndrome AML in children, and in the majority of cases, chimeric oncogenes resulting from recurrent gene rearrangements are identified. Based on these rearrangements, several molecular subsets have been characterized providing important prognostic information. One such subset includes a group of patients with translocations involving the KMT2A gene, which has been associated with various fusion partners in patients with AMKL. Here we report the molecular findings of a 2-yr-old girl with AMKL and t(11;17)(q23;25) found to have a KMT2A-SEPT9 fusion identified through targeted RNA sequencing. A KMT2A-SEPT9 fusion in this subset of patients has not previously been reported.

Trial registration: ClinicalTrials.gov NCT01775072.

Keywords: acute megakaryocytic leukemia; acute myeloid leukemia; leukemia.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural

MeSH terms

  • Bone Marrow Transplantation
  • Child, Preschool
  • Female
  • Gene Rearrangement
  • Histone-Lysine N-Methyltransferase / genetics*
  • Histone-Lysine N-Methyltransferase / metabolism
  • Humans
  • Leukemia, Megakaryoblastic, Acute / genetics*
  • Leukemia, Megakaryoblastic, Acute / metabolism
  • Myeloid-Lymphoid Leukemia Protein / genetics*
  • Myeloid-Lymphoid Leukemia Protein / metabolism
  • Oncogene Proteins, Fusion / genetics
  • Oncogene Proteins, Fusion / metabolism
  • Prognosis
  • Septins / genetics*
  • Septins / metabolism
  • Translocation, Genetic / genetics


  • KMT2A protein, human
  • Oncogene Proteins, Fusion
  • Myeloid-Lymphoid Leukemia Protein
  • Histone-Lysine N-Methyltransferase
  • SEPTIN9 protein, human
  • Septins

Associated data

  • ClinicalTrials.gov/NCT01775072