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Thoas Fioretos

Thoas Fioretos

Research team manager

Thoas Fioretos

Paired multiplex reverse-transcriptase polymerase chain reaction (PMRT-PCR) analysis as a rapid and accurate diagnostic tool for the detection of MLL fusion genes in hematologic malignancies

Author

  • Anna Andersson
  • Mattias Höglund
  • B Johansson
  • Carin Lassen
  • R Billstrom
  • Stanislaw Garwicz
  • P G Nilsson
  • Felix Mitelman
  • Thoas Fioretos

Summary, in English

The MLL gene in chromosome band 11q23 is frequently rearranged in acute lymphoblastic and acute myeloid leukemias. To date, more than 50 different chromosomal regions are known to participate in translocations involving 11q23, many of which affect MLL. The pathogenetically important outcome of these rearrangements is most likely the creation of a fusion gene consisting of the 5' part of the MLL gene and the 3' end of the partner gene. Although abnormalities of the MLL gene as such are generally associated with poor survival, recent data suggest that the prognostic impact varies among the different fusion genes generated. Hence, detection of the specific chimeric gene produced is important for proper prognostication and clinical decision making. We have developed a paired multiplex reverse-transcriptase polymerase chain reaction analysis to facilitate a rapid and accurate detection of the most frequent MLL fusion genes in adult and childhood acute leukemias. To increase the specificity, two sets of primers were designed for each fusion gene, and these paired primer sets were run in parallel in two separate multiplex one-step PCR reactions. Using the described protocol, we were able to amplify successfully, in one single assay, the six clinically relevant fusion genes generated by the t(4;11)(q21;q23) [MLL/AF4], t(6;11)(q27;q23) [MLL/AF6], t(9;11)(p21-22;q23) [MLL/AF9], t(10;11)(p11-13;q23) [MLL/AF10], t(11;19)(q23;p13.1) [MLL/ELL], and t(11;19)(q23; p13.3) [MLL/ENL] in cell lines, as well as in patient material.

Department/s

  • Division of Clinical Genetics
  • Paediatrics (Lund)

Publishing year

2001

Language

English

Pages

1293-1293

Publication/Series

Leukemia

Volume

15

Issue

8

Document type

Journal article

Publisher

Nature Publishing Group

Topic

  • Cancer and Oncology

Keywords

  • MLL
  • acute lymphoblastic leukemia
  • acute myeloid leukemia
  • multiplex reverse-transcriptase polymerase chain reaction

Status

Published

ISBN/ISSN/Other

  • ISSN: 1476-5551