Rearrangements of the RARA and PML genes in a cytogenetic variant of acute promyelocytic leukemia

Genes Chromosomes Cancer. 1993 Feb;6(2):118-20. doi: 10.1002/gcc.2870060209.

Abstract

Acute promyelocytic leukemia (APL) is usually associated with the translocation t(15;17)(q22;q12-21), which disrupts the retinoic acid receptor alpha (RARA) gene on chromosome 17 and the PML gene on chromosome 15. We report a patient with typical APL without the common t(15;17). Cytogenetic studies demonstrated a normal appearance of chromosomes 15, while a small marker seemed to be an i(17q-). Molecular analysis showed RARA and PML rearrangements, suggesting that the chromosome abnormality corresponded to a variant translocation.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Bone Marrow Transplantation
  • Carrier Proteins / genetics*
  • Chromosomes, Human, Pair 15 / ultrastructure*
  • Chromosomes, Human, Pair 17 / ultrastructure*
  • Female
  • Gene Rearrangement*
  • Humans
  • Karyotyping
  • Leukemia, Promyelocytic, Acute / genetics*
  • Leukemia, Promyelocytic, Acute / surgery
  • Male
  • Receptors, Retinoic Acid
  • Translocation, Genetic*

Substances

  • Carrier Proteins
  • Receptors, Retinoic Acid