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Molecular analysis of simple variant translocations in acute promyelocytic leukemia

  • Julian Borrow
  • Janet Shipley
  • Kathy Howe
  • Fiona Kiely
  • Audrey Goddard
  • Denise Sheer
  • Arun Srivastava
  • Astok C Antony
  • Thoas Fioretos
  • Felix Mitelman
Publishing year: 1994
Language: English
Pages: 234-243
Publication/Series: Genes, Chromosomes and Cancer
Volume: 9
Issue: 4
Document type: Journal article
Publisher: John Wiley & Sons

Abstract english

The primary cytogenetic abnormality in acute promyelocytic leukemia (APL; FAB M3) is a reciprocal translocation, t(15;17)(q22;q12), which serves to fuse the PML gene on chromosome 15 to the retinoic acid receptor alpha (RARA) gene on chromosome 17. A PML-RARA fusion message transcribed from the der(15) is thought to mediate leukemogenesis. Two APL patients with simple variants of this translocation, t(3;15)(q21;q22) and t(X;15)(p11;q22), have previously been reported who lack cytogenetic involvement of chromosome 17, although their breakpoint positions on chromosome 15 still suggest the involvement of the PML gene. Here we report on a combined analysis by molecular genetics and in situ hybridization of these two patients, in which we wanted to determine whether the PML gene has alternative fusion partners or whether cryptic rearrangement of the RARA locus has occurred instead. A cryptic involvement of RARA was demonstrated in both patients by a combination of Southern analysis, reverse transcription coupled to PCR (RT-PCR), and fluorescence in situ hybridization. The results indicate an absolute requirement for the rearrangement of the RARA gene in the pathogenesis of APL and underline the importance of RARA during normal myeloid differentiation.


  • Medical Genetics


  • ISSN: 1045-2257
Thoas Fioretos
E-mail: thoas.fioretos [at]

Principal investigator

Division of Clinical Genetics

+46 46 222 45 95

+46 70 334 33 67