Blood cancer’s genetic warning signs may appear years early
Blood cancers that eventually worsen may carry detectable genetic warning signs years before patients develop serious symptoms. The findings could lead to earlier intervention while also helping doctors distinguish true cancer from harmless age-related blood changes.
Long-term genetic studies on chronic blood cancers have revealed significant differences between patients whose conditions remain stable and those whose diseases eventually worsen. Researchers from the Wellcome Sanger Institute propose that DNA changes could aid in early diagnosis, accurate monitoring, assessing treatment effectiveness, and identifying progression signs up to a decade before symptoms become apparent.
The study, published in Cancer Discovery, was led by researchers at the Wellcome Sanger Institute and their collaborators. They combined genetic analysis with clinical records to understand how chronic blood cancers develop over decades. Myeloproliferative neoplasms (MPNs) are rare, long-lasting blood cancers that begin in the bone marrow.
Around 40,000 people in the UK have MPNs, with about 4,000 new diagnoses annually. These cancers progress slowly, often beginning with early-life mutations followed by additional mutations over several decades. In around 10 percent of patients, no common MPN mutations are present. Doctors might diagnose cancer based solely on bone marrow cell appearance, potentially leading to unnecessary chemotherapy.
The course of chronic blood cancer varies widely, with some patients feeling well for years while others develop severe conditions like leukemia or myelofibrosis. Researchers investigated whether genetic changes could identify patients at high risk and if those without common MPN mutations truly have blood cancer. They followed 30 patients with chronic blood cancers, primarily MPNs, using whole-genome sequencing and extensive clinical information, including nearly 8,000 blood test results and treatment records.
Some patients were monitored for up to 25 years, allowing researchers to observe how blood cell populations changed over time. Genetic family trees revealed distinct patterns of evolution among patients with MPNs. Stable patients had genetically steady blood cell populations with few mutations, while progressing patients developed new DNA changes over time.
This suggests that progression in chronic blood cancers may be biologically encoded years before visible deterioration. The study also found that patients without mutations in JAK2, CALR, or MPL had changes more consistent with normal aging rather than cancer. This challenges the assumption that all patients with unusual bone marrow features have a blood cancer.
The findings support new guidelines from the British Society for Haematology, recommending describing some patients as having thrombocytosis without JAK2, CALR, or MPL mutations instead of immediately diagnosing blood cancer. Thrombocytosis means a high platelet count without clear genetic evidence of cancer. The study highlights potential clinical benefits of more routine genomic testing, such as distinguishing stable disease from progressing cancers, refining uncertain diagnoses, and guiding the development of more precise treatments.
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