Masked t(15;17) APL with the insertion of PML-RARalpha fusion gene in 4q21

Leuk Res. 2009 Nov;33(11):1552-5. doi: 10.1016/j.leukres.2009.04.033. Epub 2009 May 27.

Abstract

Most cases of acute promyelocytic leukemia (APL) are characterized by the reciprocal translocation t(15;17); however, several complex variant translocations have also been reported. Here we report complex cytogenetic abnormalities without t(15;17) assayed by the G-banding method in a 62-year-old woman with the typical morphology and clinical features of APL. Based on spectral karyotyping and FISH analyses, we confirm the insertion of a cryptic chromosomal segment containing the PML/RARalpha fusion gene. The patient achieved complete remission after treatment with all-trans retinoic acid (ATRA) alone. Although the mechanism of this cryptic variant insertion is not known, we conclude that the insertion of PML-RARalpha fusion into 4q21 seems not to alter the effectiveness of treatment with ATRA.

Publication types

  • Case Reports

MeSH terms

  • Chromosome Banding
  • Chromosomes, Human, Pair 15*
  • Chromosomes, Human, Pair 17*
  • Chromosomes, Human, Pair 4*
  • Female
  • Gene Fusion*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Leukemia, Promyelocytic, Acute / genetics*
  • Middle Aged
  • Oncogene Proteins, Fusion / genetics*
  • Translocation, Genetic*

Substances

  • Oncogene Proteins, Fusion
  • promyelocytic leukemia-retinoic acid receptor alpha fusion oncoprotein