Abstract:
Acute myeloid leukemia (AML) is characterized by proliferation of the myeloid lineage and accumulation of immature
hematopoietic cells in the bone marrow and is typified by marked heterogeneity both in response to treatment and survival.
AMLprofiler is a qualitative in vitro diagnostic microarray incorporating seven molecular biomarkers used to diagnose and
predict posttherapy survival rates. In this study, we compared AMLprofiler to routine AML diagnostic methodologies employed
in South Africa, focusing on consistency of the results, cost, and time to result. RNA was isolated from bone marrow and
peripheral blood samples from patients with de novo AML and was processed using Affymetrix Gene Profiling Reagent kits. The
results from AMLprofiler and standard methodologies were highly comparable. In addition, many samples were determined to
be positive for biomarkers not routinely investigated in South Africa, namely, CEBPA double mutants, NPM1 variants, and
altered expression levels of BAALC and EVI1. 38% of samples presented with no positive biomarker; AMLprofiler nonetheless
enabled 26% of AML patients to be classified into either favorable or poor prognostic categories. This study highlights the
comprehensive nature of the microarray. Decreased time to result and refinement of risk stratification are notable benefits.
