Researchers find rare genetic mutation doesn't always result in blood cancer

by Tracey Peake, North Carolina State University

edited by Lisa Lock, reviewed by Andrew Zinin

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Researchers have found that a genetic mutation associated with a rare group of blood cancers does not always result in development of the disease. The work provides insight into the initial phases of the disease and may eventually lead to tailored monitoring techniques that improve patient outcomes.

The Philadelphia chromosome-negative myeloproliferative neoplasms (MPNs) are a group of blood cancers that cause the overproduction of red blood cells, some types of white blood cells or platelets. Many cases of MPNs are driven by a particular mutation in the gene JAK2, called JAK2V617F.

"We were fortunate to have access to a population study that allowed us to look at the occurrence of this mutation in the general public," says Jordan Snyder, assistant teaching professor of mathematics at North Carolina State University and corresponding author of the study published in the Proceedings of the National Academy of Sciences. "That allowed us to see relationships between the mutation and instances of disease."

Snyder formerly was an assistant professor of mathematics at Roskilde University, Denmark, where the work was done.

The researchers looked at participant data from the Danish General Suburban Population Study, which contained blood samples and health questionnaires completed by residents of Zealand, Denmark. Of the nearly 20,000 participants, Snyder's group identified 67 people with the JAK2V617F mutation.

"Specifically, we were able to get data on the participants' variant allele fraction, or VAF, over a 10-year period from a sample of the general public, not just patients," Snyder says.

"Every cell that has DNA has two copies of JAK2, but not every copy has the same mutation status," Snyder continues. "VAF represents the number of mutated copies of the gene versus normal copies. Most of the work around this mutation looks at the VAF of patients with cancer. But to figure out how the disease progresses from a healthy state, we need to look at VAF before cancer develops."

The research team created a stochastic mathematical model to describe how the mutation might proliferate in blood stem cells, where it is believed to originate. According to the model, in 70% of cases, the mutated cells were likely to outcompete their normal counterparts; in 18% of cases, mutants had a competitive disadvantage compared with normal cells; and 12% showed neither an advantage nor a disadvantage.

Thirty-seven of the 67 people in the study with the JAK2V617F mutation were later diagnosed with an MPN blood cancer, fewer than might be expected based on previous research.

"While the exact mechanism of action from this mutation is not completely understood, the previous assumption was that the mutation would always eventually outcompete healthy copies, leading to cancer," Snyder says. "But these data point to the idea that there is more to it. It's not just the presence of the mutated gene—something is happening to help that mutated copy outcompete the normal ones.

"Next steps in this work will be looking at some of those potential other factors—such as chronic inflammation."

Publication details

Jordan Snyder et al, Mathematical modeling of JAK2V617F clonal expansion in a general population cohort, Proceedings of the National Academy of Sciences (2026). DOI: 10.1073/pnas.2507773123

Journal information: Proceedings of the National Academy of Sciences

Key medical concepts

Hematopoietic Stem CellsChronic Inflammation

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Oncology Provided by North Carolina State University Who's behind this story?

Lisa Lock

BA art history, MA material culture. Former museum editor, paramedic, and transplant coordinator. Editing for Science X since 2021. Full profile →

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