Scientists uncover 'fossil record' of leukaemia decades before diagnosis

Researchers from the University of Cambridge and University College London (UCL) have used stored blood samples to reconstruct how acute myeloid leukaemia (AML) develops over time.

The research, published in the journal Nature, found that in two-thirds of the women who later developed AML, the first cancer-driving mutation was estimated to have occurred before the age of 20.

Acute myeloid leukaemia (AML) is an aggressive, fast-developing form of blood cancer affecting more than 2,700 people in the UK each year. It is one of the deadliest blood cancers, with survival rates remaining low.

Scientists analysed stored blood samples from 47 women who later developed AML, alongside 46 women who remained free of blood cancer. The samples came from a large UK ovarian cancer screening trial involving postmenopausal women, which is why only women were included in this research.

Using sensitive DNA sequencing and mathematical modelling, researchers traced how groups of mutated blood cells grew over time, with some growing faster and becoming more common than others. This created what they called a 'fossil record' of the blood.

They found that cells carrying early genetic mutations could grow slowly over decades. As further mutations developed, some of these cells began multiplying much faster, potentially leading to the development of AML.

Crucially, these cells often followed surprisingly predictable patterns, which could one day help identify people at greatest risk of developing AML.

However, many healthy people carry similar genetic changes without developing leukaemia, and further research is needed before these findings could lead to new tests or preventative treatments.

Dr Richard Francis, Deputy Director of Research at Blood Cancer UK, said:
“It's fascinating that scientists can now trace the earliest changes linked to leukaemia back more than 50 years, almost like uncovering a fossil record of the disease. What's particularly exciting is that researchers found surprisingly predictable patterns in how mutated blood cells grow, potentially opening up a window of opportunity to intervene before the cancer develops

“For anyone affected by leukaemia, discoveries like this may understandably raise questions about whether their cancer could have been spotted sooner. But it's important to remember that these genetic changes are usually outside our control, and developing leukaemia is not someone's fault. Many people carry similar mutations without ever developing blood cancer, and this research doesn't mean we could have predicted or prevented someone's diagnosis.

“While this research offers hope for the future, people facing acute myeloid leukaemia today urgently need better treatments. At Blood Cancer UK, we're already funding research that aims to identify people at higher risk of developing blood cancer that will explore how we can develop approaches that can be used to stop blood cancer in its tracks. Through our £25 million Trial Treat Beat appeal, we're also working to accelerate clinical trials and help double survival chances for people facing the deadliest blood cancers.”