A case of a novel PML/RARA short fusion transcript with truncated transcription variant 2 of the RARA gene

Mol Diagn Ther. 2010 Apr 1;14(2):113-7. doi: 10.2165/11317400-000000000-00000.

Abstract

Acute promyelocytic leukemia (APL) with atypical breakpoints in the promyelocytic leukemia (PML) and retinoic acid receptor-alpha (RARA) genes represents a rare leukemic event, which occurs preferentially in patients with variant types of the PML/RARA fusion gene. Here we report on a patient with APL with a unique PML/RARA fusion transcript that harbors a short type of this fusion gene, exhibiting unexpected results of standard PCR diagnostics. The detected transcript originates from fusion of PML exon 4 and a truncated form of transcription variant 2 of the RARA gene, with an additional 9 bp insertion. According to our knowledge, this differs from all previously described fusion transcripts.

Publication types

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

MeSH terms

  • Base Sequence
  • Electrophoresis, Agar Gel
  • Humans
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Oncogene Proteins, Fusion / genetics*
  • Protein Isoforms / genetics
  • RNA, Messenger / genetics
  • RNA, Messenger / metabolism
  • Receptors, Retinoic Acid / genetics*
  • Retinoic Acid Receptor alpha
  • Transcription, Genetic*

Substances

  • Oncogene Proteins, Fusion
  • Protein Isoforms
  • RARA protein, human
  • RNA, Messenger
  • Receptors, Retinoic Acid
  • Retinoic Acid Receptor alpha
  • promyelocytic leukemia-retinoic acid receptor alpha fusion oncoprotein