[HTML][HTML] High throughput digital quantification of mRNA abundance in primary human acute myeloid leukemia samples

JE Payton, NR Grieselhuber, LW Chang… - The Journal of …, 2009 - Am Soc Clin Investig
JE Payton, NR Grieselhuber, LW Chang, M Murakami, GK Geiss, DC Link, R Nagarajan…
The Journal of clinical investigation, 2009Am Soc Clin Investig
Acute promyelocytic leukemia (APL) is characterized by the t (15; 17) chromosomal
translocation, which results in fusion of the retinoic acid receptor α (RARA) gene to another
gene, most commonly promyelocytic leukemia (PML). The resulting fusion protein, PML-
RARA, initiates APL, which is a subtype (M3) of acute myeloid leukemia (AML). In this report,
we identify a gene expression signature that is specific to M3 samples; it was not found in
other AML subtypes and did not simply represent the normal gene expression pattern of …
Acute promyelocytic leukemia (APL) is characterized by the t(15;17) chromosomal translocation, which results in fusion of the retinoic acid receptor α (RARA) gene to another gene, most commonly promyelocytic leukemia (PML). The resulting fusion protein, PML-RARA, initiates APL, which is a subtype (M3) of acute myeloid leukemia (AML). In this report, we identify a gene expression signature that is specific to M3 samples; it was not found in other AML subtypes and did not simply represent the normal gene expression pattern of primary promyelocytes. To validate this signature for a large number of genes, we tested a recently developed high throughput digital technology (NanoString nCounter). Nearly all of the genes tested demonstrated highly significant concordance with our microarray data (P < 0.05). The validated gene signature reliably identified M3 samples in 2 other AML datasets, and the validated genes were substantially enriched in our mouse model of APL, but not in a cell line that inducibly expressed PML-RARA. These results demonstrate that nCounter is a highly reproducible, customizable system for mRNA quantification using limited amounts of clinical material, which provides a valuable tool for biomarker measurement in low-abundance patient samples.
The Journal of Clinical Investigation