Blood cancer progression detectable in genome years early
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- Wellcome Sanger Institute researchers followed 30 patients with myeloproliferative neoplasms (MPNs) for up to 25 years, analyzing more than 450 blood samples and nearly 8,000 blood test results with whole-genome sequencing to reconstruct genetic 'family trees' of blood cells.
- Patients whose disease progressed accumulated new DNA mutations over time, while those with clinically stable disease showed genetically 'steady' blood cell populations — suggesting progression is biologically encoded years before symptoms worsen, according to the Cancer Discovery study.
- Researchers found that patients lacking the standard JAK2, CALR, or MPL mutations (about 10 percent of MPN cases) showed genomic changes more consistent with normal aging than cancer, potentially calling into question their cancer diagnosis.
- New British Society for Haematology guidelines cited in the study now recommend labeling some of these mutation-negative patients as having 'thrombocytosis without JAK2, CALR or MPL mutations' rather than a blood cancer diagnosis.
- MPNs affect roughly 40,000 people in the UK with about 4,000 new cases diagnosed annually, and most cases involve JAK2, CALR, or MPL mutations acquired early in life followed by additional mutations over decades.
- First author Dr. Daniel Leongamornlert said the team traced cell ancestry over many years and observed distinct evolutionary patterns between stable and progressive patients, while senior author Dr. Jyoti Nangalia said the findings will help develop better monitoring strategies.
- Patient Alan Everitt, 77, was diagnosed with essential thrombocythemia at Cambridge University Hospitals in 1992 and later progressed to myelofibrosis, providing one of the decades-long clinical histories underlying the study.
Why it matters: Clinicians monitoring the roughly 40,000 UK MPN patients could use routine genomic testing to flag high-risk cases years before clinical deterioration, enabling earlier intervention while sparing mutation-negative patients — roughly 10 percent of cases — from unnecessary chemotherapy currently given without definitive genetic evidence of cancer.
