PML/RAR-alpha rearrangement in acute promyelocytic leukaemias apparently lacking the t(15;17) translocation

Eur J Haematol. 1992 Mar;48(3):173-6. doi: 10.1111/j.1600-0609.1992.tb00592.x.

Abstract

Recent investigations have clarified some of the molecular mechanisms underlying the t(15;17) translocation specific for acute promyelocytic leukaemia (APL). Together with providing new insights into the pathogenesis of the disease, the identification of breakpoints within the RAR-alpha and PML loci on chromosomes 17 and 15 has allowed a new relevant diagnostic tool for the recognition of this leukaemic form. We report the molecular characterization of 6 cases of acute myelogenous leukaemia (AML) in which a diagnosis of typical M3 by conventional morphocytochemistry (FAB criteria) was not accompanied by cytogenetic evidence of the specific t(15;17) aberration. DNA rearrangements were documented in all cases at the PML and RAR-alpha loci. Moreover, in 4 cases also analysed by Northern blot hybridization, we could detect aberrant RAR-alpha transcripts. These findings highlight the specificity of PML/RAR-alpha rearrangements in APL, whereas the lack of t(15;17) may be attributed to sub-microscopic translocations as well as to the presence of non-neoplastic cells undergoing mitosis in the samples examined for karyotype.

MeSH terms

  • Adolescent
  • Adult
  • Blotting, Northern
  • Blotting, Southern
  • Bone Marrow / immunology
  • Bone Marrow / pathology
  • Carrier Proteins / genetics*
  • Child, Preschool
  • Chromosomes, Human, Pair 15
  • Chromosomes, Human, Pair 17
  • Female
  • Gene Rearrangement*
  • Humans
  • Immunophenotyping
  • Leukemia, Promyelocytic, Acute / genetics*
  • Leukemia, Promyelocytic, Acute / pathology
  • Male
  • Middle Aged
  • Neoplasm Proteins / genetics
  • Nuclear Proteins*
  • Promyelocytic Leukemia Protein
  • Receptors, Retinoic Acid
  • Transcription Factors / genetics*
  • Translocation, Genetic*
  • Tumor Suppressor Proteins

Substances

  • Carrier Proteins
  • Neoplasm Proteins
  • Nuclear Proteins
  • Promyelocytic Leukemia Protein
  • Receptors, Retinoic Acid
  • Transcription Factors
  • Tumor Suppressor Proteins
  • PML protein, human