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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

Andersson, Anna LU ; Höglund, Mattias LU ; Johansson, B; Lassen, Carin LU ; Billstrom, R; Garwicz, Stanislaw LU ; Nilsson, P G; Mitelman, Felix LU and Fioretos, Thoas LU (2001) In Leukemia 15(8). p.1293-1293
Abstract
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... (More)
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. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
MLL, acute lymphoblastic leukemia, acute myeloid leukemia, multiplex reverse-transcriptase polymerase chain reaction
in
Leukemia
volume
15
issue
8
pages
1293 - 1293
publisher
Nature Publishing Group
external identifiers
  • pmid:11480574
  • scopus:0034890351
ISSN
1476-5551
language
English
LU publication?
yes
id
baf44492-8a48-4071-a8c6-d50f025cbde0 (old id 1120442)
date added to LUP
2008-06-23 15:49:21
date last changed
2018-05-29 12:11:11
@article{baf44492-8a48-4071-a8c6-d50f025cbde0,
  abstract     = {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.},
  author       = {Andersson, Anna and Höglund, Mattias and Johansson, B and Lassen, Carin and Billstrom, R and Garwicz, Stanislaw and Nilsson, P G and Mitelman, Felix and Fioretos, Thoas},
  issn         = {1476-5551},
  keyword      = {MLL,acute lymphoblastic leukemia,acute myeloid leukemia,multiplex reverse-transcriptase polymerase chain reaction},
  language     = {eng},
  number       = {8},
  pages        = {1293--1293},
  publisher    = {Nature Publishing Group},
  series       = {Leukemia},
  title        = {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},
  volume       = {15},
  year         = {2001},
}