[Detection of PML/RARA rearrangement by reverse transcriptase-PCR and sequencing in a case of microgranular acute promyelocytic leukemia lacking t(15;17) on karyotype and FISH]

Korean J Lab Med. 2009 Oct;29(5):379-83. doi: 10.3343/kjlm.2009.29.5.379.
[Article in Korean]

Abstract

We report a case of morphologically microgranular acute promyelocytic leukemia with PML/RARA fusion transcripts demonstrated by reverse transcriptase-PCR and cDNA sequencing, and no PML/RARA fusion detected by karyotype and FISH analyses. Karyotype was 47,XX,+8[19]/46,XX[1]. Although the newer FISH probes provide more accurate detections of t(15;17), it would be necessary to perform other molecular tests to further identify the masked PML/RARA fusions.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Chromosomes, Human, Pair 15 / genetics*
  • Chromosomes, Human, Pair 17 / genetics*
  • Chromosomes, Human, Pair 8
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence / methods
  • Karyotyping / methods
  • Leukemia, Promyelocytic, Acute / diagnosis
  • Leukemia, Promyelocytic, Acute / genetics*
  • Leukemia, Promyelocytic, Acute / pathology
  • Middle Aged
  • Oncogene Proteins, Fusion / genetics*
  • Reverse Transcriptase Polymerase Chain Reaction / methods*
  • Sequence Analysis, DNA / methods*
  • Translocation, Genetic*
  • Trisomy

Substances

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