Acute myeloid leukemia with t(16;16) (p13;q22) showing a new CBFB-MYH11 fusion transcript associated with an atypical leukemic blasts morphology

Hum Pathol. 2014 Mar;45(3):643-7. doi: 10.1016/j.humpath.2013.09.013. Epub 2013 Oct 3.

Abstract

Acute myeloid leukemia (AML) cases with inv(16)(p13q22) or t(16;16)(p13;q22) are characterized by multiple CBFB-MYH11 fusion transcripts, type A being the most frequent. Rare fusion variants are frequently correlated with an atypical cytomorphology, but their biologic and prognostic significance is unclear. We report a case of acute myeloid leukemia with a balanced t(16;16)(p13;q22) and additional monosomy 13 showing a new CBFB-MYH11 fusion transcript variant. The patient also showed an atypical morphology of bone marrow blasts, since about 15% of all blasts showed bilobed nuclei but there was no pathologic eosinophilia. The biologic and prognostic implications of this rare association are discussed.

Keywords: Bilobed leukemic blast; CBFB-MYH11 fusion gene; Fusion transcript variants; t(16;16).

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Inversion
  • Chromosomes, Human, Pair 16*
  • Core Binding Factor beta Subunit / genetics*
  • Female
  • Humans
  • Leukemia, Myeloid, Acute / genetics*
  • Leukemia, Myeloid, Acute / pathology
  • Middle Aged
  • Myosin Heavy Chains / genetics*
  • Oncogene Proteins, Fusion / genetics*

Substances

  • Core Binding Factor beta Subunit
  • MYH11 protein, human
  • Oncogene Proteins, Fusion
  • Myosin Heavy Chains