A t(17;20)(q21;q12) masking a variant t(15;17)(q22;q21) in a patient with acute promyelocytic leukemia

Cancer Genet Cytogenet. 2006 Jul 1;168(1):73-6. doi: 10.1016/j.cancergencyto.2005.12.014.

Abstract

Acute promyelocytic leukemia (APL) is genetically characterized by a reciprocal translocation between chromosomes 15 and 17, the t(15;17)(q22;q21), which results in the fusion gene PML/RARA. A small proportion of patients with APL have complex or simple variants of this translocation. We report the case of a 31-year-old woman with APL (FAB-M3 classical form) carrying an apparently balanced translocation t(17;20)(q21;q12) masking a t(15;17)(q22;q21) confirmed by fluorescence in situ hybridization (FISH) and molecular studies. The patient was treated with an all-trans-retinoic acid (ATRA) plus anthracycline-based protocol and achieved complete remission, with no recurrence to date. These results illustrate the usefulness of combining cytogenetics, FISH, and reverse transcription-polymerase chain reaction (RT-PCR) methods to evidence the PML/RARA fusion gene in cases with morphologic suspicion of APL with variant or cryptic t(15;17).

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Anthracyclines / therapeutic use
  • Chromosome Painting
  • Chromosomes, Human, Pair 15 / genetics*
  • Chromosomes, Human, Pair 17 / genetics*
  • Chromosomes, Human, Pair 20 / genetics*
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence
  • Leukemia, Promyelocytic, Acute / drug therapy
  • Leukemia, Promyelocytic, Acute / genetics*
  • Neoplasm Proteins / genetics
  • Oncogene Proteins, Fusion / genetics
  • Remission Induction
  • Reverse Transcriptase Polymerase Chain Reaction
  • Translocation, Genetic / genetics*
  • Tretinoin / therapeutic use

Substances

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