A newly published study suggests that DNA patterns may reveal whether certain blood cancers are progressing years before routine blood tests register the change. The findings center on myeloproliferative neoplasms, known as MPNs, in which bone marrow produces too many blood cells.
The study, published in the journal Cancer Discovery by the American Association for Cancer Research, followed 30 people with MPNs. Researchers monitored DNA in blood and bone marrow for genetic changes.
They then examined whether those changes were associated with blood counts, stable disease, or progression to myelofibrosis or acute leukemia. The results pointed to notable differences between patients whose disease stayed stable and those whose disease worsened.
People who remained stable often had DNA that also remained stable, without cancer related genetic changes. According to researchers at the Wellcome Trust Sanger Institute in the U.K., that suggests a genetically quiet MPN is more likely to stay stable.
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Meanwhile, patients whose disease progressed often showed DNA changes years before routine blood tests detected the worsening disease. New groups of abnormal cells emerged and grew during that period, according to the study.
Nine participants eventually developed acute myeloid leukemia, also known as AML. However, the disease did not progress through the same path in every patient.
In some participants, MPN cells gradually accumulated harmful mutations. In others, the leukemia appeared to develop from a separate group of abnormal blood cells, and researchers observed similar differences among patients who developed myelofibrosis.
The researchers also examined genetic patterns associated with medications. They found that hydroxyurea, a common drug used to control blood counts in people with MPN, leaves a recognizable pattern of small DNA changes in blood cells.
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However, the study found no evidence that hydroxyurea causes leukemia. Researchers also linked a similar genetic pattern to azacitidine, a medication used to treat certain blood cancers.
Three participants had triple negative essential thrombocythemia, a condition generally classified as a blood cancer. Yet researchers detected no genetic signs of cancer in samples from those participants.
That finding raises the possibility that some patients who receive this diagnosis may not have a malignant disease and may not require long term cancer treatment. The study did not establish that conclusion for patients more broadly.
The research was limited by its small sample of 30 people. Its findings also demonstrate associations rather than proving cause and effect.
Abhishek Chilkulwar, an oncologist with Orlando Health who was not involved in the study, told Fox News Digital that most people with MPNs can live with them "for decades." He described the findings as a "striking demonstration" of how DNA changes may signal the development of certain cancers a decade before diagnosis.
Chilkulwar said a patient's future disease path may already be written in the cells long before doctors can identify any outward sign. He also presented the research as an early example of what precision medicine for blood cancer prevention could eventually become.
"That's the direction this kind of research is pointing, even though the tools to act on it aren't fully built yet."
Periodically testing a patient's DNA could potentially give doctors early notice that the disease is moving in a dangerous direction before routine blood work shows progression, Chilkulwar said. Still, he stressed that the immediate application would be limited.
"In the near term, the realistic use of this is modest: closer monitoring, not new treatment," he said. A patient who acquired a high risk mutation could receive more frequent blood counts and, when warranted, more frequent bone marrow checks so progression could be detected 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.
Chilkulwar said the next step would involve pairing early genetic detection with drugs targeting specific mutations. Such an approach could potentially prevent or delay disease progression, although the necessary tools are not yet fully developed.
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