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


Authors: Forlenza, C. J.; Zhang, Y.; Yao, J.; Benayed, R.; Steinherz, P.; Ramaswamy, K.; Kessel, R.; Roshal, M.; Shukla, N.
Article Title: A case of KMT2A-SEPT9 fusion-associated acute megakaryoblastic leukemia
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. © 2018 Forlenza et al.; Published by Cold Spring Harbor Laboratory Press.
Keywords: leukemia; acute myeloid leukemia; acute megakaryocytic leukemia
Journal Title: Cold Spring Harbor Molecular Case Studies
Volume: 4
Issue: 6
ISSN: 2373-2873
Publisher: Cold Spring Harbor Laboratory Press  
Date Published: 2018-12-01
Start Page: a003426
Language: English
DOI: 10.1101/mcs.a003426
PROVIDER: scopus c2 - 30455225
PUBMED: 30455225
DOI/URL:
Notes: Cold Spring Harb Mol Case Stud -- Export Date: 2 January 2019 -- Article -- Source: Scopus C2 - 30455225
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MSK Authors
  1. Jinjuan Yao
    24 Yao
  2. Peter G Steinherz
    169 Steinherz
  3. Neerav Shukla
    72 Shukla
  4. Rym Benayed
    72 Benayed
  5. Mikhail Roshal
    67 Roshal
  6. Yanming Zhang
    25 Zhang