A new complex translocation (15;20;17)(q22;p13;q21) in acute promyelocytic leukemia

Cancer Genet Cytogenet. 1998 Mar;101(2):89-94. doi: 10.1016/s0165-4608(97)00251-3.

Abstract

We describe here a 39-year-old male with acute promyelocytic leukemia (APL) carrying a new complex translocation (15;20;17). A chromosomal analysis of the bone marrow cells showed 46, XY, t(15;20;17)(q22;p13;q21). Fluorescence in situ hybridization (FISH) analysis using plasmid DNA libraries of chromosomes 15, 17, and 20 revealed three derivative chromosomes, der(15)t(15;17), der(17)t(17;20), and der(20)t(15;20). Fluorescence in situ hybridization with cosmid DNA probes flanking the breakpoints of t(15;17) did not show the retinoic acid receptor alpha (RAR alpha)/PML fusion signal usually generated on the der(17)t(15;17). However, rearrangement of the RAR alpha gene and expression of the PML/RAR alpha chimeric transcript were identified by Southern blot and reverse-transcriptase polymerase chain reaction (RT-PCR) analyses, respectively. Our results confirmed that the PML/RAR alpha gene on the der(15)t(15;17), not the RAR alpha/PML gene, must be essential to leukemogenesis in APL. Furthermore, considering another reported case with a 20p13 aberration, it is possible that 20p13 is a nonrandom breakpoint in APL with a complex translocation.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Blotting, Southern
  • Chromosomes, Human, Pair 15*
  • Chromosomes, Human, Pair 17*
  • Chromosomes, Human, Pair 20*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Leukemia, Promyelocytic, Acute / genetics*
  • Leukemia, Promyelocytic, Acute / metabolism
  • Male
  • Neoplasm Proteins / metabolism
  • Oncogene Proteins, Fusion / metabolism
  • Polymerase Chain Reaction
  • Transcription, Genetic
  • Translocation, Genetic*

Substances

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