Leukemia Research Reports (Jan 2016)

An ETV6-ABL1 fusion in a patient with chronic myeloproliferative neoplasm: Initial response to Imatinib followed by rapid transformation into ALL

  • Purvi M. Kakadia,
  • Ralf Schmidmaier,
  • Andreas Völkl,
  • Irene Schneider,
  • Natalia Huk,
  • Stephanie Schneider,
  • Gerda Panzner,
  • Ulrike Neidel,
  • Barbara Fritz,
  • Karsten Spiekermann,
  • Stefan K. Bohlander

DOI
https://doi.org/10.1016/j.lrr.2016.09.002
Journal volume & issue
Vol. 6, no. C
pp. 50 – 54

Abstract

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We report the case of a 26 year-old patient presenting with a persistent leukocytosis and CML-like marrow but no evidence of a BCR/ABL1 fusion. Molecular cytogenetics revealed that a portion of the ETV6 locus was inserted into the ABL1 locus. An ETV6/ABL1 fusion transcript could subsequently be confirmed. The patient was started on imatinib and went into complete cytomorphological remission. QRT-PCR measurements showed a 4 log reduction of the ETV6/ABL1 fusion. 15 months later, the disease transformed into ALL and the patient expired. Thus, an ETV6/ABL1 fusion positive MPN has the potential to transform very rapidly into ALL.

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