Detection of PML-retinoic acid receptor-alpha fusion transcripts in acute promyelocytic leukemia with trisomy 8 but without t(15;17)

Am J Hematol. 1994 Mar;45(3):212-6. doi: 10.1002/ajh.2830450304.

Abstract

Chromosome translocation t(15;17), the breakpoints of which are in the PML gene on chromosome 15 and retinoic acid receptor-alpha (RAR alpha) gene on chromosome 17, is specifically found in acute promyelocytic leukemia (APL). Clinically typical APL without t(15;17) and with the PML-RAR alpha fusion transcripts or rearrangements in PML and/or RAR alpha gene has been reported, suggesting submicroscopic changes at the molecular level without apparent t(15;17) or observation of normal metaphases. Trisomy 8 is common in APL as a secondary chromosomal abnormality in addition to t(15;17), as well as in acute myelogenous leukemia in general, but it is rare as a sole chromosomal anomaly in APL. PML-RAR alpha fusion transcript was detected in an APL case with trisomy 8 but without t(15;17), indicating that the leukemic cells lacked t(15;17) and still expressed the PML-RAR alpha fusion transcripts. This indicates that the same submicroscopic molecular changes as in APL with t(15;17) do occur in APL without t(15;17) and supports the use of molecular analysis for PML-RAR alpha fusion in APL.

Publication types

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

MeSH terms

  • Adult
  • Base Sequence
  • Chromosomes, Human, Pair 15
  • Chromosomes, Human, Pair 17
  • Chromosomes, Human, Pair 8*
  • Female
  • Humans
  • Karyotyping
  • Leukemia, Promyelocytic, Acute / genetics*
  • Leukemia, Promyelocytic, Acute / metabolism
  • Molecular Sequence Data
  • Neoplasm Proteins*
  • Nuclear Proteins*
  • Oncogene Proteins, Fusion / genetics*
  • Polymerase Chain Reaction
  • Promyelocytic Leukemia Protein
  • RNA, Messenger / analysis*
  • Receptors, Retinoic Acid / genetics*
  • Transcription Factors / genetics
  • Translocation, Genetic
  • Trisomy / genetics*
  • Tumor Suppressor Proteins

Substances

  • Neoplasm Proteins
  • Nuclear Proteins
  • Oncogene Proteins, Fusion
  • Promyelocytic Leukemia Protein
  • RNA, Messenger
  • Receptors, Retinoic Acid
  • Transcription Factors
  • Tumor Suppressor Proteins
  • PML protein, human