Blood cancer can be predicted earlier? Study reveals how hereditary and acquired mutations work together.
Blood cancer doesn't appear suddenly—it can develop in a latent phase for years before showing symptoms. A new study by scientists at Washington University School of Medicine in St. Louis, published in Nature Genetics, shows that the risk of the disease increases when mutations acquired during life meet mutations inherited from parents.
DNA mutations can occur in two ways: some we inherit, and others appear over time as our cells divide. Most are harmless, but some can lead to the development of cancer.
The team, led by Dr. Kelly Bolton, focused on a condition called clonal hematopoiesis . This condition occurs when a single blood stem cell with a mutation begins to multiply faster than healthy cells. While this process never leads to cancer in most people, it can be the beginning of leukemia in some.
"Most people with clonal hematopoiesis will never develop blood cancer. However, we believe that many—if not all—people who develop blood cancer will go through a phase of clonal hematopoiesis at some point," Bolton emphasizes.
Researchers analyzed genomic data from over 730,000 people . They found that individuals with inherited mutations in certain genes were more likely to have clonal hematopoiesis. Furthermore, these genes influenced which subsequent mutations acquired throughout life appeared in cells.
It is these interactions – of inherited and new mutations – that may determine whether a clone becomes harmless or develops into leukemia.
“Our study is the first look at the inherited genetic background that, so to speak, creates the soil, and we are examining which unwanted seeds, acquired later in life, are more or less likely to grow from that soil,” Bolton explains graphically.
The ability to detect people at highest risk before they develop full-blown leukemia opens the door to a completely new approach to prevention.
Jie Liu , co-author of the study, adds:
"It's exciting how combining genomic data on a large scale can reveal how inherited and acquired mutations interact to influence cancer risk. These insights bring us closer to identifying high-risk individuals before cancer develops."
In practice, this means that in the future, blood tests could pick up subtle signals of clonal hematopoiesis in people with inherited predisposing mutations.
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Currently, diagnosing clonal hematopoiesis is not easy – standard blood counts often fail to identify the problem. However, if tests could be developed to detect the appropriate mutations, doctors could intervene early and implement preventative treatment.
“Because leukemia is so difficult to treat, we hope to find ways to intervene early—while it is still in the precancerous stage—to prevent clonal hematopoiesis from developing into leukemia,” Bolton says.
Scientists at Siteman Cancer Center are already investigating whether targeted drugs, such as IDH1 and IDH2 inhibitors , can stop the growth of certain cell clones before they turn into cancer.
Although the research is in its early stages, its results could change the approach to blood cancer diagnosis. In the future, patients with risky mutations could be monitored earlier and, if necessary, offered preventative therapies.
If affordable blood tests can be developed that identify the “soil” and “seeds” of cancer, doctors will have a real chance of stopping the disease before it progresses.
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