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DNA patterns could reveal whether certain blood cancers are progressing years before routine tests detect those changes, new research suggests.
The study, published in the journal Cancer Discovery by the American Association for Cancer Research, followed 30 people with myeloproliferative neoplasms (MPNs), a group of blood cancers in which the bone marrow produces too many blood cells.
Researchers monitored DNA in the patients’ blood and bone marrow for genetic changes, then examined whether those changes were associated with blood counts, stable disease or progression to myelofibrosis or acute leukemia.
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People who stayed stable often had stable DNA, without cancer-related genetic changes. This suggests a genetically “quiet” MPN is more likely to remain stable, according to the researchers, who are based at the Wellcome Trust Sanger Institute in the U.K.
Patients whose disease remained stable often showed little genetic change over time, the researchers found. (iStock)
Patients whose disease worsened often showed DNA changes years before routine blood tests detected progression, as new groups of abnormal cells emerged and grew, according to the study.
Nine participants eventually developed acute myeloid leukemia (AML), but their disease did not progress in the same way.
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In some, MPN cells gradually accumulated harmful mutations; in others, the leukemia appeared to arise from a separate group of abnormal blood cells. Similar differences were seen in those who developed myelofibrosis.
The researchers also found that hydroxyurea — a common medication used to control blood counts in people with MPN — leaves a recognizable pattern of small DNA changes in blood cells. There was no evidence, however, that the drug causes leukemia. A similar pattern was linked to azacitidine, a drug used to treat certain blood cancers.
Genetic changes sometimes emerged years before routine blood tests detected disease progression, the study found. (iStock)
Three participants had “triple-negative” essential thrombocythemia, a condition generally classified as a blood cancer, yet researchers found no genetic signs of cancer in their samples.
The finding raises the possibility that some patients given this diagnosis may not have a malignant disease and may not need long-term cancer treatment.
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The study was limited by its small sample size, and the findings show associations rather than establishing cause and effect.
In an interview with Digital, Abhishek Chilkulwar, M.D., an oncologist with Orlando Health, noted that most people with MPNs can live with them “for decades.”
“This research shows that these blood cancers may reveal their future course in a person’s DNA long before any symptoms appear — a genuinely exciting scientific insight, and a step toward precision medicine in blood cancer care,” an expert said. (iStock)
The doctor, who was not involved in the study, called the findings a “striking demonstration” that DNA changes may signal the development of certain cancers a decade before diagnosis — and that their future path may “already be ‘written’ in a patient’s cells long before doctors can see any outward sign.”
“More broadly, it’s an early example of what could become precision medicine for blood cancer prevention — using a patient’s own genetic data to predict risk years in advance, then someday intervening before disease progression rather than only treating it after the fact,” he said.
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“That’s the direction this kind of research is pointing, even though the tools to act on it aren’t fully built yet.”
The results suggest that periodically re-testing a patient’s DNA over time could give doctors a “heads up” that someone’s disease is heading in a dangerous direction, “well before” it shows up in routine blood work, Chilkulwar added.
The next step, according to one doctor, would be pairing early genetic detection with drugs designed to act on those specific mutations, which could potentially prevent or delay disease progression. (iStock)
“In the near term, the realistic use of this is modest: closer monitoring, not new treatment,” he said. “A patient found to have acquired a high-risk mutation could be shifted to more frequent blood counts and, if warranted, more frequent bone marrow checks — so if progression does happen, it’s caught earlier.”
“It would not be a reason to start stem cell transplant evaluation; transplant is a serious procedure appropriately reserved for patients who have actually progressed to myelofibrosis or AML, not something to prepare for based on a mutation that might cause problems years down the line,” the doctor cautioned.
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The next step, Chilkulwar said, would be pairing early genetic detection with drugs targeting those specific mutations, potentially preventing or delaying disease progression.
