Genetic Test Predicts Leukemia Relapse Risk, Offering Hope for Precision Medicine

Acute myeloid leukemia (AML) is an aggressive blood cancer, and although treatment can often achieve remission, the risk of relapse remains a significant concern for patients. Now, advancements in genetic testing are providing doctors with a more precise way to predict a patient’s prognosis and tailor treatment strategies.

Detecting Measurable Residual Disease (MRD)

Recent studies published in Bone Marrow Transplantation demonstrate that a highly sensitive DNA-based test can identify minimal traces of cancer, known as measurable residual disease (MRD), that traditional methods may miss. Detecting MRD allows clinicians to better assess a patient’s risk of relapse, particularly after undergoing a stem cell transplant.

Focus on the NPM1 Mutation

Research has focused on the NPM1 gene mutation, which occurs in approximately 30% of adults diagnosed with AML. Patients with this mutation often receive allogeneic hematopoietic cell transplantation (alloHCT) – a stem cell transplant using donor cells – but the success of this procedure is closely linked to the amount of cancer remaining before the transplant.

Using next-generation DNA sequencing, researchers analyzed blood samples from 190 patients stored in a national biobank of individuals who received alloHCT between 2013 and 2019. The test’s sensitivity allowed it to detect the NPM1 mutation in fewer than 1 in 10,000 cells. [2]

Predictive Power of NPM1 Status

The results revealed that patients who tested positive for the mutated NPM1 signal before their transplant were three to four times more likely to experience cancer recurrence. Those with the highest levels of the NPM1 marker had a 27% three-year survival rate. [3]

The study also considered the frequent co-occurrence of the NPM1 mutation with the FLT3-ITD mutation. When a single test was used, NPM1 testing demonstrated the highest overall predictive value.

Moving Towards Precision Medicine

This research is part of a larger movement towards precision medicine in cancer care, where treatments are tailored to the specific genetic mutations present in each individual’s disease. By accurately monitoring recovery based on these specific mutations, doctors can refine treatment plans and improve outcomes.

“Large, carefully designed studies are essential to systematically improve standards in how we monitor and treat this rare disease,” said Christopher Hourigan, professor and director of the Cancer Research Center at the Fralin Biomedical Research Institute in Roanoke, Virginia. “Some genetic markers may look promising, but without solid evidence they can be misleading. Precision medicine depends on building a solid foundation so that these powerful technologies can be used responsibly.” [3]

The MEASURE Study

Researchers are currently expanding and validating their findings through a national study called MEASURE, which is active in 18 major cancer centers across the United States. Results from the MEASURE study are expected later in 2026.

The MEASURE study is supported by the National Institutes of Health and the Red Gates Foundation, and involves collaboration between Virginia Tech, Dana-Farber Cancer Institute, Fred Hutch Cancer Center, the U.S. Food and Drug Administration, and over 20 pharmaceutical and medical diagnostic companies. [3]

Resources

For more information on acute myeloid leukemia treatment options and genetic factors, visit the National Cancer Institute.