New Research Advances Early Detection of Blood Cancers

As we age, our cells replicate and DNA in these cells can acquire mutations. Most new mutations are harmless, but some may lead to cancer development later in life.

A study led by Washington University researchers shows that newly acquired mutations interact with inherited ones, affecting a person's lifetime risk of developing cancer. This understanding could guide the creation of methods for early detection and prevention of cancer.

The research, published in Nature Genetics, focused on blood cancers like acute myeloid leukemia (AML), though these mutation interactions likely play roles in other-cancer types as well.

Inherited mutations are present from birth, while acquired ones accumulate with age. Led by Kelly Bolton, MD, Ph.D., the team studied how interactions between these two types of mutations influence blood cancer risks.

The study particularly examined clonal hematopoiesis—caused by a mutation in blood stem cells—which increases blood cancer risk. These mutated stem cell clones multiply more and risk transforming into blood cancer.

"Most people with clonal hematopoiesis never develop blood cancer," said Bolton. "However, we believe many individuals who do develop blood cancer pass through a phase of clonal hematopoiesis."

Researchers analyzed genomic data from over 730,000 people and found that certain inherited gene mutations correlated with increased prevalence of clonal hematopoiesis. These inherited mutations also impacted patterns of newly acquired mutations causing clonal hematopoiesis.

"Our study provides a first look at the genetic background that influences later-acquired mutations," Bolton said. "Long-term, we aim to identify and eliminate pre-cancerous cells in high-risk individuals."

Although clonal hematapoiesis is part of normal aging, factors such as smoking or radiation exposure can accelerate its progression to cancer.

The study's first author noted the importance of combining genetic data to better understand how inherited and acquired mutations work together in influencing cancer risks.

Bolton believes that detecting both types of mutations early would help identify individuals who could benefit from preventive strategies.

Currently, clonal hematopoiesis is identified via specialized blood tests. Future research aims to develop new diagnostic tools to detect these mutations before standard blood screening can reveal an issue.

"Leukemia treatment is challenging," Bolton said. "We hope early intervention can prevent its progression."