In a study soon to be released at the American Society of Hematology conference, two teams of Boston area international researchers have announced the discovery of a gene mutation that appears to be a predictor of leukemia, lymphoma and other blood diseases. The study was published last week in the New England Journal of Medicine. Researchers decoded the DNA of approximately 30,000 individuals to arrive at this discovery. Dr. Benjamin Ebert from Boston’s Brigham and Women’s Hospital, one of the study leaders, said that researchers hope that this discovery will lead to an effective screening test that will enable doctors to identify at risk individuals and initiate early prevention therapies.
Approximately 140,000 people a year in the US are diagnosed with blood cancer. While all cancers are caused by defective genes, not all defective genes are inherited. The gene mutation discovered by the research teams appears to build up over time. For example, in research subjects under the age of 40, the mutation was rarely found, but it was found in 10 percent of subjects over the age of 65 and in almost 20 percent of subjects over the age of 90.
The study consisted of two different subject groups. One team studied 17,000 individuals with high risk factors for heart disease and diabetes, and the other studied 12,000 Swedish subjects with mental disorders. Independently, both teams discovered three mutated genes that were responsible for almost all the blood cancer risk found in the subjects. Approximately 1% of the subjects with the gene mutation developed a cancer within the year, and 10% developed a cancer within 10 years. The presence of the mutations also seemed to double the risk of heart disease and stroke.
There is still a long way to go to turn these fascinating discoveries into an effective prevention methodology and members of the research teams caution against any organized screening program because it will only lead to increased anxiety. But the findings reveal for the first time the origin of these blood cancers, the first step in protecting patients at risk and ultimately to developing prevention programs.