Blood test identifies acute myeloid leukemia patients at greater risk for relapse after bone marrow transplant

Tuesday, March 7, 2023

A small portion of adults in remission from a deadly blood cancer had persisting mutations that were detected, which predicted their risk of death from having the cancer return

Researchers at the National Institutes of Health show the benefits of screening adult patients in remission from acute myeloid leukemia (AML) for residual disease before receiving a bone marrow transplant. The findings, published in JAMA, support ongoing research aimed at developing precision medicine and personalized post-transplant care for these patients.

About 20,000 adults in the United States are diagnosed each year with AML, a deadly blood cancer, and about one in three live past five years. A bone marrow transplant, which replaces unhealthy blood-forming cells with healthy cells from a donor, often improves these chances. However, research has shown that lingering traces of leukemia can make a transplant less effective.

Researchers in the current study wanted to show that screening patients in remission for evidence of low levels of leukemia using standardized genetic testing could better predict their three-year risks for relapse and survival. To do that, they used ultra-deep DNA sequencing technology to screen blood samples from 1,075 adults in remission from AML. All were preparing to have a bone marrow transplant. The study samples were provided through donations to the Center for International Blood and Marrow Transplant Research.

After screening adults with variants commonly associated with AML, researchers showed that the two most common mutations in AML —NPM1 and FLT3-ITD — could be used to track residual leukemia. Among 822 adults with these variants detectable at initial diagnosis, 142 adults — about one in six — were found to still have residual traces of these mutations after therapy despite being classified as in remission.