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

  1. Neerav Shukla1
  1. 1Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, New York 10065, USA;
  2. 2Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, New York 10065, USA;
  3. 3Division of Hematology/Oncology and Stem Cell Transplantation, Cohen Children's Medical Center of New York, New Hyde Park, New York 11042, USA
  1. Corresponding author: forlenzc{at}mskcc.org

Abstract

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.

Footnotes

  • [Supplemental material is available for this article.]

  • Received August 2, 2018.
  • Accepted October 10, 2018.

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