Cryptic translocation of PML/RARA on 17q. A rare event in acute promyelocytic leukemia

Cancer Genet Cytogenet. 2002 Oct 15;138(2):169-73. doi: 10.1016/s0165-4608(02)00584-8.

Abstract

Cryptic translocations in acute promyelocytic leukemia are rare. Usually the gene fusion PML/RARA is located on chromosome 15. Combined cytogenetic, fluorescence in situ hybridization (FISH), and molecular (polymerase chain reaction [PCR]) analysis were employed for the diagnosis and precise localization of the fusion gene. Conventional cytogenetics showed a normal karyotype; PCR showed a typical PML/RARA rearrangement in exon 1. FISH analysis revealed that a submicroscopic part of chromosome 15 had been inserted into 17q. This case adds further information on alternative ways of rearrangement of the PML/RARA genes, possibly correlated with all-trans retinoic acid resistance.

Publication types

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

MeSH terms

  • Adult
  • Chromosomes, Human, Pair 17 / genetics*
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Leukemia, Promyelocytic, Acute / genetics*
  • Neoplasm Proteins / genetics*
  • Oncogene Proteins, Fusion / genetics*
  • Reverse Transcriptase Polymerase Chain Reaction
  • Translocation, Genetic / genetics*

Substances

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