New Blood Tests Could Catch Blood Cancer Earlier

As we age, DNA in our cells can accumulate mutations during replication. While most are harmless, some raise the risk of cancer later in life. Now, a new study shows that these newly acquired mutations interact with inherited mutations from parents in ways that significantly influence a person’s risk of developing blood cancers such as acute myeloid leukemia (AML). Understanding these interactions could pave the way for earlier detection and prevention.

A study by researchers at Washington University School of Medicine (WashU Medicine, St. Louis, MO, USA) investigated how inherited and acquired mutations interact to influence cancer risk. The researchers focused on clonal hematopoiesis, a condition in which mutations in blood stem cells give those cells a survival advantage, allowing them to expand and potentially transform into blood cancer. The team analyzed genomic data from more than 730,000 people to understand how inherited mutations affect the emergence of these clones.

Image: Acquired mutations in blood stem cells interact with inherited mutations to influence the risk of developing blood cancer (Photo courtesy of WashU Medicine)

The analysis revealed that clonal hematopoiesis was more common in people with inherited mutations in cancer-associated genes. These inherited changes shaped the patterns of newly acquired mutations that drive clonal hematopoiesis, and individuals carrying both had a significantly higher risk of progression to blood cancer. Importantly, the study confirmed that clonal hematopoiesis often precedes leukemia, meaning early intervention could be possible before the disease develops.

The findings, published in Nature Genetics, suggest that detecting both inherited mutations and clonal hematopoiesis could identify high-risk individuals long before cancer manifests. Routine blood tests often miss clonal hematopoiesis, but new genetic screening approaches may be able to identify people with expanding clones and inherited risks. Such advances could enable preventive strategies, including targeted therapies for the most harmful mutations.

Researchers are already testing preventive treatments, such as IDH1 and IDH2 inhibitors, to stop harmful clones from expanding. Future goals include developing blood tests that can identify high-risk patients earlier, before abnormal blood counts appear. This study also points to a broader potential for targeted clinical trials aimed at preventing clonal hematopoiesis from progressing into leukemia.

“Our study is a first look at the inherited genetic background that is providing the soil, so to speak, and we’re seeing what undesirable seeds that are acquired later in life are more or less likely to grow from that soil,” said Dr. Kelly Bolton, assistant professor of medicine in the Division of Oncology at WashU Medicine and senior author of the study. “The goal is to stamp out the weeds early, before they can take root and become full-blown cancer.”

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