A 39-year-old woman is referred to Washington University's Siteman Cancer Center in St. Louis with suspected acute myeloid leukemia (AML), a cancer that can be treated relatively simply with medication, or not so simply with a high-risk stem cell transplant, depending on the tumor subtype. But finding out which type of cancer she has proves trickier than expected. While the pathologist sees a type of leukemia known as M3AML, which generally has a good outcome and can be treated with the drug ATRA, the cytogeneticist sees something entirely different.
In his analysis, the woman has a type of leukemia with poor long-term survival that is usually treated with stem cell transplantation a risky therapy that sometimes leads to death. Fortunately, in this case study, documented in the April 20 issue of the Journal of the American Medical Association, the woman's oncologist is aware of a clinical trial and, deferring treatment for six weeks, refers her there so the researchers can do a full scan of her genome and come up with an answer.
Full-genome sequencing involves scanning all the thousand of genes on the human genome to try to find a mistake. It's different from the more common gene testing these days, which looks only for specific DNA that might or might not be responsible for a particular problem. In the St. Louis case, the more in-depth sequencing, done in only seven weeks, uncovered a new genetic "mistake" that showed the woman could be treated with ATRA and not the more-complicated, risky stem cell transplantation.