Improving Ability to Diagnose Blood Cancers

Improving Ability to Diagnose Blood Cancers

The low blood counts that characterize the preleukemic disorder, myelodysplastic syndromes (MDS), occur because hematopoietic stem cells don’t fully differentiate into mature red cells but give rise to misshapen “dysplastic” cells. About 10 percent of MDS cases are caused by deletions in a region of chromosome 7 called 7q. In a study published in the November 2 issue of the Proceedings of the National Academy of Sciences, three research groups  led by Amit Verma, M.B.B.S.,  found that one of the missing 7q genes—DOCK4—is essential for forming the actin skeleton that maintains cell shape in healthy developing red blood cells. Reduced levels of DOCK4 lead to abnormally shaped red cells similar to those seen in MDS patients, the researchers found. Using multispectral flow cytometry, they developed a highly sensitive method for quantifying the extent of actin skeleton disruption. Their method can potentially diagnose MDS much sooner than the current diagnostic method in which pathologists examine cells removed via bone marrow biopsy. Dr. Verma is professor of medicine and of developmental & molecular biology. Other Einstein collaborators included Ulrich Steidl, M.D., Ph.D., professor of cell biology and of medicine, as well as graduate student Matthias Bartenstein and postdoc Tushar Bhagat, Ph.D.