Bing Center Spotlight

August 30, 2012: New England Journal of Medicine (DOI:10.1056/NEJMoa1200710): A team of scientists at the Bing Center for Waldenstrom’s Macroglobulinemia at the Dana Farber Cancer Institute and Harvard Medical School in Boston, MA led by Steven P. Treon MD, PhD announced the identification of a gene mutation that underlies most cases of Waldenstrom’s Macroglobulinemia. The research which was first presented at the 53rd Annual Meeting of the American Society of Hematology and then at the 7th International Workshop on WM described a mutation occurring in one single DNA molecule out of three billion DNA molecules which make up the genetic code of a cell, as the leading culprit in Waldenstrom’s and a target for new diagnostic tests and drug development for this disease. The mutation was discovered after the team performed whole genome sequencing of tumor and normal cells from thirty patients with Waldenstrom’s Macroglobulinemia. By lining up and comparing the DNA sequences of tumor and normal cells, Treon and his colleagues were able to detect the same recurring mutation in the MYD88 gene, a finding present in ninety percent of patients with Waldenstrom’s Macroglobulinemia who were tested. In most patients the L265P mutation was found in one of the 2 copies of the MYD88 gene, but in some patients with a longstanding history of WM, a reduplication of the segment of chromosome 3 where MYD88 is located resulted in 2 copies of the L265P mutation being present. The clinical significance of having an extra copy of the mutation remains to be determined.

Read more: MYD88 L265P Somatic Mutation in WM