A PML/RARA chimeric gene on chromosome 2 in a patient with acute promyelocytic leukemia (M3) associated with a new variant translocation: t(2;15;17)(q21;q22;q21)

Cancer Genet Cytogenet. 2000 Jul 1;120(1):80-2. doi: 10.1016/s0165-4608(99)00238-1.

Abstract

We describe a patient with acute promyelocytic leukemia (APL) carrying a new complex variant translocation of t(2;15;17)(q21;q22;q21). The karyotypic interpretation was confirmed by fluorescence in situ hybridization (FISH) with the use of painting probes of chromosomes 2, 15, and 17 and a PML/RARA dual color DNA probe. FISH showed a PML/RARA fusion gene on the der(2) instead of the der(15). These results suggest that the critical event in the development of APL is the formation of a PML/RARA chimeric gene, regardless of its locus in the genome.

Publication types

  • Case Reports

MeSH terms

  • Chromosomes, Human, Pair 15
  • Chromosomes, Human, Pair 17
  • Chromosomes, Human, Pair 2*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Leukemia, Promyelocytic, Acute / genetics*
  • Neoplasm Proteins* / genetics*
  • Oncogene Proteins, Fusion* / genetics*
  • Translocation, Genetic*

Substances

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