Identification of two atypical PML-RAR(alpha) transcripts in two patients with acute promyelocytic leukemia

Leuk Res. 2002 May;26(5):439-42. doi: 10.1016/s0145-2126(01)00158-8.

Abstract

We identified two patients with atypical PML-RAR(alpha) rearrangements, 53 and 13 base pairs longer than the typical bcr1 transcript. Sequence analysis revealed a new PML breakpoint at the end of exon 7a in patient 1, and a PML exon 6 breakpoint in patient 2, with an insertion of 35 nucleotides of RAR(alpha) intron 2. Patient 1 did not express RAR(alpha)-PML and patient 2 showed the RAR(alpha)-PML transcript, which corresponded to the typical bcr1. These results emphasize on the relevance of the correct identification of atypical PML-RAR(alpha) rearrangements because of the potential implications in leukemogenesis, in the response to treatment, and for the correct monitoring of minimal residual disease.

Publication types

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

MeSH terms

  • Adult
  • Base Sequence
  • Gene Rearrangement
  • Humans
  • Leukemia, Promyelocytic, Acute / genetics*
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Neoplasm Proteins / genetics*
  • Oncogene Proteins, Fusion / genetics*
  • RNA, Messenger / analysis*
  • Reverse Transcriptase Polymerase Chain Reaction

Substances

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