PML/RAR alpha rearrangement in acute promyelocytic leukaemia with t(1;17) elucidated using fluorescence in situ hybridization

Br J Haematol. 1997 Aug;98(2):440-3. doi: 10.1046/j.1365-2141.1997.2253042.x.

Abstract

Acute promyelocytic leukaemia (APL) is characterized by t(15;17)(q22;q21) which results in the formation of two chimaeric genes, PML/RAR alpha and RAR alpha/PML, thought to play a role in leukaemogenesis. We report a case of a patient with APL apparently lacking the t(15;17) but with t(1;17) translocation identified by fluorescence in situ hybridization (FISH). Chromosome 15 seemed intact but PML/RAR alpha fusion transcript was detected by molecular analysis. The patient achieved complete remission with all-trans retinoic acid treatment associated with chemotherapy. This case illustrates the usefulness of combined cytogenetics, FISH and molecular biology in cases with no evident t(15;17) to predict response to treatment.

Publication types

  • Case Reports

MeSH terms

  • Chromosomes, Human, Pair 1 / genetics*
  • Chromosomes, Human, Pair 17 / genetics*
  • Gene Rearrangement
  • Humans
  • In Situ Hybridization, Fluorescence
  • Leukemia, Promyelocytic, Acute / genetics*
  • Male
  • Middle Aged
  • Neoplasm Proteins / genetics*
  • Oncogene Proteins, Fusion / genetics*
  • Polymerase Chain Reaction
  • Translocation, Genetic*

Substances

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