Identification of PML-RARA rearrangement by RT-PCR and sequencing in an acute promyelocytic leukemia without t(15;17) on G-banding and FISH

Leuk Res. 2007 Feb;31(2):239-43. doi: 10.1016/j.leukres.2006.05.011. Epub 2006 Jun 21.

Abstract

Acute promyelocytic leukemia (APL) is characterized by a reciprocal translocation, t(15;17) (q22;q12), resulting in fusion of the genes promyelocytic leukemia (PML) and retinoic acid receptor alpha (RARA). With conventional cytogenetic methods, these translocations are detected in about 70-90% of patients, with most of the negative results due to technical problems or cryptic variants. Those masked PML-RARA fusions can be identified by molecular analyses such as reverse transcriptase-polymerase chain reaction (PCR) and fluorescence in situ hybridization (FISH). We have studied a patient showing morphological, cytochemical, and immunophenotypic features of hypergranular APL with trisomy 8 as a sole anomaly. t(15;17) was not evident on FISH tests, while RT-PCR and cDNA sequencing revealed the presence of PML-RARA transcripts.

Publication types

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

MeSH terms

  • Chromosome Banding*
  • Chromosomes, Human, Pair 8 / genetics*
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence / methods*
  • Leukemia, Promyelocytic, Acute / diagnosis
  • Leukemia, Promyelocytic, Acute / drug therapy
  • Leukemia, Promyelocytic, Acute / genetics*
  • Middle Aged
  • Oncogene Proteins, Fusion / genetics*
  • Remission Induction
  • Reverse Transcriptase Polymerase Chain Reaction / methods*
  • Sequence Analysis, DNA / methods*
  • Trisomy

Substances

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