U of U researchers make breakthrough in identification of blood cancers

The University of Utah (U of U) announced Wednesday some promising progress concerning the identification of blood cancers. Researchers at U of U conducted a study in which they identified common mutation hotspots in the DNA of blood cancer patients — something they believe can be used in the future to identify individuals who are on a trajectory toward blood cancer.



Clint Mason, PhD, assistant professor of pediatrics at U of U and a leader of the study, spoke to the significance of these results in a statement:

“When identical mutations are found to be present in a small percentage of blood cells of a healthy person, it may indicate that something abnormal has begun to occur.”

Drawing from 48 published cancer studies, the researchers evaluated the DNA of 7,340 individuals with leukemia or other blood disorders. Of the 3 billion DNA bases in each of these individuals, they found 434 to be frequently mutated. Given the enormous amount of DNA in the human body, the shared mutation locations among these individuals wouldn’t simply occur by chance; it reveals a shared characteristic among individuals with blood cancers, Mason told State of Reform.

They subsequently used this information in an evaluation of 4,538 individuals without diagnosed blood cancer, discovering that 83 of them had identical hotspots to the first group. Mason emphasized that these individuals had very low levels of the mutations, with generally around 2% to 5% of their cells having the mutations. By comparison, individuals with cancer typically have mutations in 50% or more of their cells. 

“Think about someone on the day they’re diagnosed with cancer. They have one of these hotspot mutations in 50% to 100% of their blood cells. Well, if you were to go back a month, or maybe a year, they would have had that same mutation, but it would’ve only been in maybe 20% of their cells, or 10%.”

The discovery of this small percentage of mutated cells — a process called clonal hematopoiesis — is nonetheless significant because patients without cancer are generally expected to have no mutated cells, Mason explained. Individuals with clonal hematopoiesis can be differentiated from individuals with no mutations by identifying these low levels of mutated cells at hotspot locations, allowing medical professionals to identify those who have a chance of developing a blood cancer in the future.

“We studied what are called somatic mutations, and those are mutations that arise in your DNA as you’re aging. So that means, if we find a mutation, we’re giving you a real-time risk assessment.”

The study also found that clonal hematopoiesis can occur in children more than originally thought. Experts anticipate to primarily find these mutations in the DNA of adults, as previous findings have shown these mutations to increase in occurrence as people age. According to Mason, this study, unlike the majority of other studies on the topic, included a large amount of children. Among these 400 children, significant evidence was found of clonal hematopoiesis.

Discoveries of these mutations in individuals without blood cancer probably doesn’t mean they will develop cancer any time soon — per the study, only approximately 1% of individuals with these mutations are expected to develop cancer per year. Although these individuals with single, low-level mutations are unlikely to develop cancer for a number of years, if at all, the information nonetheless helps predict in whom blood cancers are more likely to occur later in life.

“Our goal has been to help fill in gaps in the understanding of cancer development so that future prevention work can take place more quickly and effectively. We are grateful to have been able to contribute a few puzzle pieces to that monumental effort.”