Myeloid Leukemia

Diagnosis of AML1-MTG8 (ETO)-Positive AML 149
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Diagnosis and Monitoring of AML1-MTG8
(ETO)-Positive Acute Myeloid Leukemia by Qualitative
and Real-Time Quantitative RT-PCR
Khalid Tobal and John A. Liu Yin
Summary
Assessing the level of residual disease in leukemia is vital for evaluating patients’ response
to treatment and for identifying those at high risk of relapse. This should enable early preemptive
intervention to prevent the onset of hematological relapse in those patients. One of the
most common translocations in acute myeloid leukemia (AML) is the t(8;21). t(8;21) AML is
characterized by a relatively good prognosis. This chapter discusses both qualitative and quantitative
(real-time quantitative reverse-transcription polymerase chain reaction [RQ-PCR]) protocols
for the diagnosis and minimal residual disease (MRD) monitoring in t(8;21) AML. It
also discusses the importance of choosing appropriate controls for each assay. The chapter
provides a simple equation for assessing the sensitivity/reliability of RQ-PCR assays, which
enables scientists to assess the accuracy and reliability of their data.
Key Words: AML; t(8;21); qualitative RT-PCR; real-time RT-PCR (RQ-PCR); minimal
residual disease (MRD); control genes; quantification reliability.
1. Introduction
The t(8;21) is one of the most common chromosomal translocations in acute
myeloid leukemia (AML), detected in approx 20% of adult and 40% of pediatric
AML M2 (1,2). This translocation fuses the AML1 gene on chromosome 21
and the MTG8 (ETO) gene on chromosome 8 (3). Although patients with
t(8;21) AML have a relatively good prognosis, relapse remains the most common
cause of treatment failure. Therefore, accurately monitoring the level of
minimal residual disease may play an important role in the management of this
disease, by assessing patients’ response to treatment and identifying those at
high risk of relapse.
From: Methods in Molecular Medicine, Vol. 125: Myeloid Leukemia: Methods and Protocols
Edited by: H. Iland, M. Hertberg, and P. Marlton © Humana Press Inc., Totowa, NJ
149