The findings, which appeared online May 1, 2013, in the New England Journal of Medicine set the stage for identifying potential new drug targets and treatment strategies for AML. They may also offer better guidance for predicting the severity of disease for individual patients.
"These results provide important new insights into the genomics of a deadly and difficult-to-treat cancer, and underscore the power and scope of The Cancer Genome Atlas project," said NIH Director Francis S. Collins, M.D., Ph.D.
"Rather than just random snapshots about individual patients, this study provides a more detailed look at the aberrant genomes of AML than we have ever had before," said NHGRI Director Eric D. Green, M.D., Ph.D. "It has the potential to open up new directions in AML research, and perhaps, in the design of new therapeutics, its impact could be felt in the near future."
AML, the most common acute form of adult leukemia, develops when immature white blood cells fail to mature and instead accumulate in the bone marrow. The leukemia cells reduce the production of healthy blood cells, leading to anemia, abnormal bleeding and infections, and, if untreated, death.
Researchers examined the genomes of tumor specimens from 200 adult cases of spontaneously occurring, newly diagnosed AML. These cases represented all of the known subtypes of AML in approximately the same proportion as the general population. In this way, the study provided a realistic view of the disease, particularly in the number and frequency of genomic alterations. Each AML genome was compared to the normal genome derived from a skin sample of the same patient. Out of the 200 samples, 50 were analyzed by using whole
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NIH/National Cancer Institute