Blood test identifies acute myeloid leukemia patients at greater risk of relapse

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National Institutes of Health (NIH) researchers have found that a small portion of adults in remission from the deadly blood cancer acute myeloid leukemia (AML) had persistent mutations, detected in blood samples, and a higher risk of death from having the cancer return.

The study, published Tuesday in JAMA, shows the benefits of screening these patients for residual disease before receiving bone marrow transplants, and supports their personalized post-transplant care.

About 20,000 U.S. adults are diagnosed each year with AML. About one in three live longer than five years.

AML accounts for 1% of all new cancer cases; adults ages 65 and older are more likely to receive a diagnosis. Bone marrow transplants, which replace unhealthy blood-forming cells with healthy donor cells, often improve these chances. However, lingering traces of leukemia can make transplants less effective.

The NIH researchers endeavored to show that screening patients in remission for evidence of low leukemia levels using standardized genetic testing could help predict their three-year risks for relapse and survival. They used ultra-deep DNA sequencing technology to screen blood samples from 1,075 adults in AML remission, all of whom were preparing for bone marrow transplants.

After screening adults with variants commonly associated with AML, researchers showed that the two most common mutations, 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 out of six -- were found to have residual traces of these mutations after therapy despite being classified as in remission.

Nearly 70% of patients with the lingering NPM1 and FLT3-ITD mutations relapsed and just 39% survived after three years. By comparison, only 21% of adults without residual leukemia relapsed after three years and 63% survived. The researchers considered these outcomes striking.

Researchers also found that adults with persistent mutations, but who were younger than age 60 and received higher doses of chemotherapy and/or radiotherapy as part of their transplant preparation, were more likely to remain cancer-free after three years than those receiving lower doses. They also found that adults who didn’t receive stronger treatment before the transplant did better when this lower-dose therapy included the chemotherapy drug melphalan.

While having an increased risk for relapse may not deter patients from having a bone marrow transplant, knowing the transplant is unlikely to suffice could better inform their next steps and encourage them to consider other options, including clinical research trials, additional therapies, or different therapies.

“This study confirms prior research and provides new important data showing why testing for residual disease before a transplant is critical,” Dr. Richard Childs, clinical director of the NIH’s National Heart, Lung, and Blood Institute, said in a statement. “This information can also empower physicians to tailor transplant strategies, including considering different pre-transplant conditioning regimens and chemotherapies, to reduce an AML patient’s risk for relapse and improve their long-term chance for survival.”

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