Rearrangement of one RAR-alpha gene in an acute promyelocytic leukemia case with t(15;17) and t(6;17) involving chromosomes 17 band q21

Cancer Genet Cytogenet. 1996 Apr;87(2):172-5. doi: 10.1016/0165-4608(95)00290-1.

Abstract

Acute promyelocytic leukemia (APL) is a specific type of acute myelogenous leukemia characterized by a typical morphology and by a translocation between chromosomes 15 and 17, t(15;17)(q22;q21). Because this translocation is not found in other subtypes of acute myelogenous leukemias, it has become an important marker in the diagnosis and treatment of APL. Here we report a case with apparent absence of t(15;17) cells by cytogenetic techniques at diagnosis. At relapse, a metaphase FISH analysis (not dependent on chromosomal quality), followed by G-banding, was performed. t(15;17) was detected in 60% of the metaphases. In 30% of metaphases, an additional t(6;17) was detected involving the other chromosome 17 at band q21. In parallel, a molecular study (using the Southern blotting technique) was carried out and a single molecular rearrangement of the RAR-alpha gene was detected implying that RAR-alpha was not rearranged in the t(6;17) translocation.

Publication types

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

MeSH terms

  • Adult
  • Blotting, Southern
  • Chromosome Banding
  • Chromosomes, Human*
  • Chromosomes, Human, Pair 15
  • Chromosomes, Human, Pair 17
  • Chromosomes, Human, Pair 6
  • Gene Rearrangement*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Leukemia, Promyelocytic, Acute / genetics*
  • Male
  • Receptors, Retinoic Acid / genetics*
  • Retinoic Acid Receptor alpha
  • Translocation, Genetic*

Substances

  • RARA protein, human
  • Receptors, Retinoic Acid
  • Retinoic Acid Receptor alpha