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'Fossil record' in stored blood samples lets scientists trace leukemia back decades before diagnosis

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'Fossil record' in stored blood samples lets scientists trace leukemia back decades before diagnosis

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Scientists have reconstructed how acute myeloid leukemia (AML) develops over the decades before diagnosis, showing that in two-thirds of cases the first cancer-driving mutation had been acquired before the age of 20—more than 50 years before diagnosis.

The discovery could help predict whether an individual will develop the disease years—or even decades—before symptoms arise, raising the possibility of preventing the disease before it develops.

In research published in Nature, a team at the University of Cambridge and UCL used blood samples collected annually, some dating back 15 years before diagnosis, as a "fossil record" of the disease's development, tracing it step by step.

Using ultrasensitive DNA sequencing and mathematical modeling, they estimated when each mutation arose and how quickly the affected cells multiplied and competed with other blood cells in the years prior to AML diagnosis.

AML is an aggressive blood cancer affecting around 2,700 people in the U.K. each year. Only around one in six survive five years after diagnosis. Many healthy older people carry blood cells with mutations also found in leukemia, a condition known as clonal hematopoiesis, but only a small proportion develop AML. What has not been clear is why, because the process has never been tracked year by year in the run-up to diagnosis.

The researchers used samples from the UK Collaborative Trial of Ovarian Cancer Screening (UKCTOCS), in which around 50,000 women gave a blood sample every year for up to 11 years.


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