Chronic blood cancers appear to leave a written trail in the DNA of blood cells years before doctors can spot trouble on a routine test. That is the picture emerging from a new study by the Wellcome Sanger Institute and Cambridge University Hospitals NHS Foundation Trust, presented at the American Association for Cancer Research (AACR) annual meeting in San Diego.
The research followed 30 people with myeloproliferative neoplasms (MPNs), a group of rare blood cancers, and analyzed more than 450 blood samples alongside nearly 8,000 blood test results. Some patients were monitored for up to 25 years, giving the team a rare chance to watch the disease evolve at the level of individual cells.
By reading the genetic code of thousands of blood cells, the researchers built genetic "family trees" that separated two very different patterns. Patients whose disease stayed stable tended to have a genetically quiet population of cells. Patients whose disease later worsened had already picked up new DNA changes years before their clinical picture shifted.
What MPNs are, in plain terms
Myeloproliferative neoplasms are chronic blood cancers that start in the bone marrow, where too many blood cells are produced. The American Cancer Society groups the main forms as polycythemia vera, essential thrombocythemia and primary myelofibrosis.
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Because MPNs usually progress slowly, they are often picked up late. Common symptoms, described by the Cleveland Clinic, include fatigue, fever, night sweats, itchy skin and an enlarged spleen that can feel like fullness or pressure under the left ribs. Persistent symptoms of this kind are worth raising with a doctor, who can order a blood count.
MPNs are not common, but they are not rare either. Data from the National Cancer Institute's SEER program suggests roughly 20,000 new MPN cases a year in the United States, with about 295,000 people currently living with one.
Where the genetic signal comes in
Most MPN cases are driven by mutations in one of three genes, JAK2, CALR or MPL. The Sanger team found that the patients whose disease worsened kept collecting further DNA changes on top of those driver mutations, while stable patients did not. In their view, that means progression is, in effect, encoded in the blood cells long before symptoms catch up.
The study also flagged a quieter finding. Around one in ten MPN patients has none of the usual driver mutations, and when the team sequenced about 200 blood cell genomes from that group, the patterns looked more like normal aging than cancer. Some of these patients, in other words, may not have true blood cancer at all.
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"By reconstructing the ancestry of cells, we were able to see different evolutionary patterns between patients who had stable disease versus others who progressed," said Dr. Daniel Leongamornlert, the study's first author, in a statement from the Wellcome Sanger Institute.
Senior author Dr. Jyoti Nangalia, an honorary consultant hematologist at Cambridge University Hospitals NHS Foundation Trust, added that "the patterns we have found will help doctors develop better monitoring strategies, refine diagnosis and lead to better patient outcomes in the long run."
What this could mean for patients
The practical hope is a future blood test that reads these genetic patterns and flags high-risk patients years before their disease worsens. That kind of test could also spare people whose blood changes look like aging from unnecessary treatment.
This is an early research finding, not a clinical tool. There is no predictive MPN progression test available at a doctor's office today, and the results come from a small group of 30 patients. Anyone with persistent fatigue, night sweats, itching or unexplained abdominal fullness should still be evaluated with a standard blood count and clinical exam.
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This article is made and published by Jesper Bengtson, who may have used AI in the preparation.