Dana-Farber Cancer Institute Researchers Identify Genetic Mutation Responsible for Most Cases of Waldenstrom's Macroglobulinemia

Scientists at Dana-Farber Cancer Institute have identified a gene mutation that underlies the vast majority of cases of Waldenström's macroglobulinemia, a rare form of lymphoma that has eluded all previous efforts to find a genetic cause. The research, presented at the American Society of Hematology's 2011 annual meeting on Dec. 12, points to an error in a single digit of DNA -- one of three billion letters in the human genetic code -- as the leading culprit in Waldenström's, and a prime target for new therapies against the disease. The discovery was made by sequencing the genome of tumor cells in Waldenström's patients, reading the cells' DNA letter by letter, and seeing where it differed from that of the patients' normal cells.