Journal of Hematopathology

, Volume 7, Issue 2, pp 71–77

ETV6/FLT3 fusion in a mixed-phenotype acute leukemia arising in lymph nodes in a patient with myeloproliferative neoplasm with eosinophilia

  • Niloufar Hosseini
  • Kenneth J. Craddock
  • Shabnam Salehi-rad
  • Shawn Brennan
  • Denis J. Bailey
  • Joseph M. Brandwein
  • Anna Porwit
Case Report

DOI: 10.1007/s12308-014-0203-6

Cite this article as:
Hosseini, N., Craddock, K.J., Salehi-rad, S. et al. J Hematopathol (2014) 7: 71. doi:10.1007/s12308-014-0203-6

Abstract

The ETV6/FLT3 fusion gene has been recently reported in association with myeloproliferative neoplasm with eosinophilia (MPN-Eo) and peripheral T cell lymphoma. Favorable clinical response to a targeted FLT3 tyrosine kinase inhibitor (FLT3 TKI) was noted. Here we report a novel phenotype associated with ETV6/FLT3 rearrangement, in a 38-year-old female with presentation of progressive lymphadenopathy. Lymph node biopsy showed mixed-phenotype acute leukemia (MPAL) with expression of T cell and myeloid markers. Bone marrow morphology was consistent with MPN-Eo and no evidence of MPAL. Karyotype analysis revealed 46, XX, t(12;13)(p13;q12). ETV6/FLT3 fusion was demonstrated by fluorescence in situ hybridization. This is the first report of ETV6/FLT3 rearrangement showing a phenotype of extramedullary T/myeloid MPAL arising in the setting of MPN-Eo. We suggest addition of this entity to the WHO category of “myeloid/lymphoid neoplasms with eosinophilia,” particularly given the possibility of clinical response to FLT3 TKI in MPAL, a disease usually associated with poor prognosis.

Keywords

ETV6 FLT3 Mixed-lineage acute leukemia Myeloproliferative disorders 

Copyright information

© Springer-Verlag Berlin Heidelberg 2014

Authors and Affiliations

  • Niloufar Hosseini
    • 1
  • Kenneth J. Craddock
    • 1
  • Shabnam Salehi-rad
    • 1
  • Shawn Brennan
    • 1
  • Denis J. Bailey
    • 1
  • Joseph M. Brandwein
    • 2
  • Anna Porwit
    • 1
  1. 1.Department of Pathology, Toronto General Hospital, University Health NetworkUniversity of TorontoTorontoCanada
  2. 2.Department of Medical Oncology and Hematology, Princess Margaret Hospital, University Health NetworkUniversity of TorontoTorontoCanada