Scientists at the Genome Sequencing Center and the Siteman Cancer Center at Barnes-Jewish Hospital
and Washington University School of Medicine have decoded the complete DNA of a cancer patient and traced her disease, acute myelogenous leukemia (AML), to its genetic roots. They also identified a series of genes never before linked to that type of white blood cell cancer.
The project was led by lead author Timothy Ley, MD, hematologist and the Alan A. and Edith L. Wolff Professor of Medicine, and senior author Richard Wilson, PhD, director of the Genome Sequencing Center. The researchers used high-throughput sequencing to compare tumor tissue taken from a bone marrow sample with genetic material obtained from a skin sample.
They then isolated just 10 genetic mutations in the patient's tumor DNA out of 3 billion pairs of chemical bases that appeared to be involved in generating her disease. Eight of the mutations were considered rare and occurred in genes that had never been implicated in AML.
The team is now sequencing the genomes of additional patients with AML and are planning to expand the approach to breast and lung cancers. Each year, an estimated 13,000 cases of AML are diagnosed in the United States, and 8,800 die of the disease.
Treatment of AML has changed little in the past twenty years since most of the genetic events behind the
disease had remained unknown.