Fusion gene transcripts and ig/tcr gene rearrangements are complementary but infrequent targets for pcr-based detection of minimal residual disease in acute myeloid leukemia

ABSTRACT PCR-based monitoring of minimal residual disease (MRD) in acute leukemias can be achieved via detection of fusion gene transcripts of chromosome aberrations or detection of

immunoglobulin (Ig) and T cell receptor (TCR) gene rearrangements. We wished to assess whether both PCR targets are complementary in acute myeloid leukemia (AML). We investigated 105

consecutive AML cases for the presence of fusion gene transcripts by reverse transcriptase polymerase chain reaction (RT-PCR): _AML1-ETO_ associated with t(8;21), _CBFB-MYH11_ with inv(16),

_PML-RARA_ with t(15;17), _BCR-ABL_ with t(9;22), and _MLL-AF4_ with t(4;11). In 17 out of 105 AML cases (16%), fusion gene transcripts were found. Ninety-five of these AML patients (13 with

fusion gene transcripts) were also investigated for the presence of _IGH, IGK, TCRG_ and _TCRD_ rearrangements by Southern blot and/or PCR heteroduplex analysis and sequencing. In nine out

of 95 patients (9.5%), such rearrangements were found. Combined data revealed that only one patient with a fusion gene transcript had a coexistent Ig/TCR rearrangement. The nine AML patients

with Ig/TCR rearrangements, as well as five additional AML patients from a previous study were investigated in more detail, revealing that Ig/TCR rearrangements in AML are immature and

unusual. The presence of Ig/TCR rearrangements in AML did not correlate with _RAG_ gene expression levels as determined by real-time quantitative PCR. In conclusion, fusion gene transcripts

and Ig/TCR rearrangements are infrequent, but complementary MRD-PCR targets in AML. Access through your institution Buy or subscribe This is a preview of subscription content, access via

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Dr R Benner for his continuous support and to PG Hoogeveen, JM Wijkhuijs, D Jacobs, EJ van Gastel-Mol and ILM Wolvers-Tettero for their technical assistance and TM van Os and WM

Comans-Bitter for the preparation of the figures. Special thanks to S Fieuws from the Biostatistical Centre (Leuven) for his support in the statistical analyses. AUTHOR INFORMATION AUTHORS

AND AFFILIATIONS * Department of Immunology, Erasmus University Rotterdam/University Hospital Rotterdam, Rotterdam, The Netherlands N Boeckx, MJ Willemse, T Szczepanski, VHJ van der Velden, 

AW Langerak & JJM van Dongen * Department of Laboratory Medicine, Laboratory of Haematology, University Hospital Gasthuisberg, Leuven, Belgium N Boeckx & P Vandekerckhove *

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Szczepanski, T. _et al._ Fusion gene transcripts and Ig/TCR gene rearrangements are complementary but infrequent targets for PCR-based detection of minimal residual disease in acute myeloid

leukemia. _Leukemia_ 16, 368–375 (2002). https://doi.org/10.1038/sj.leu.2402387 Download citation * Received: 06 April 2001 * Accepted: 19 November 2001 * Published: 04 March 2002 * Issue

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shareable link is not currently available for this article. Copy to clipboard Provided by the Springer Nature SharedIt content-sharing initiative KEYWORDS * AML * Ig/TCR gene rearrangements

* chromosome aberrations * fusion genes * MRD * _RAG1_ * _RAG2_