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Diagnosis of acute promyelocytic leukaemia by RT-PCR: detection of PML-RARA and RARA-PML fusion transcripts

Author:
  • Julian Borrow
  • Audrey D Goddard
  • Barbara Gibbons
  • Fay Katz
  • David Swirsky
  • Thoas Fioretos
  • Ian Dube
  • David A Winfield
  • Judith Kingston
  • Anne Hagemeijer
  • John K H Rees
  • T Andrew Lister
  • Ellen Solomon
Publishing year: 1992
Language: English
Pages: 529-540
Publication/Series: British Journal of Haematology
Volume: 82
Issue: 3
Document type: Journal article
Publisher: Federation of European Neuroscience Societies and Blackwell Publishing Ltd

Abstract english

Acute promyelocytic leukaemia (APL; AML M3) is identified by a unique t(15;17) translocation which fuses the PML gene to the retinoic acid receptor alpha gene (RARA). Reverse transcription coupled with the polymerase chain reaction (RT-PCR) has been used to develop a diagnostic test for APL based on the PML-RARA fusion message. Separate PCR assays were designed to amplify either PML-RARA (15q+ derived) or RARA-PML (17q- derived) chimaeric transcripts. PML-RARA transcripts were detected in every case from a series of 18 APL patients with cytogenetically confirmed t(15;17) translocations, whereas RARA-PML messages were detected in only 67% (12/18) of these patients. This suggests that it is the 15q+ derivative which mediates leukaemogenesis. Furthermore the PCR approach (or Southern analysis) may be used to identify in which of the alternative PML introns the breakpoint occurs; 52% of cases (15/29 patients) utilize a 5' PML intron and 48% the 3' intron (14/29 cases). Neither the choice of PML intron nor the expression of the 17q- derivative could be correlated with the microgranular variant of APL (M3V), overall survival rate, age, sex or presence of coagulopathy. Finally, the fusion message is undetectable in five remission samples. This indicates a possible use for RT-PCR in monitoring remission patients for evidence of relapse.

Keywords

  • Hematology

Other

Published
  • ISSN: 0007-1048
Thoas Fioretos
E-mail: thoas [dot] fioretos [at] med [dot] lu [dot] se

Principal investigator

Translational Genomic and Functional Studies of Leucemia

+46 46 222 45 95

+46 70 334 33 67

BMC C13

66

Professor

Division of Clinical Genetics

+46 46 222 45 95

+46 70 334 33 67

BMC C13

66

Professor

Translational Genomic and Functional Studies of Leucemia

+46 46 222 45 95

+46 70 334 33 67

BMC C13

66