Newly identified rare genetic variant reduces the risk of leukemia

A newly identified and rare genetic variant slows the growth of mutated blood stem cells, researchers report, and it reduces the risk of leukemia. The findings offer insight into why some people are naturally more resistant to clonal expansion and age-related blood cancers despite acquiring risky mutations. As tissues age, they quietly accumulate many mutations that can drive cancer. In the blood-forming, or hematopoietic, system, such mutations often appear in otherwise healthy individuals as clonal hematopoiesis (CH), a process in which certain blood stem cell (HSC) clones gain a growth advantage over non-mutated clones, allowing them to expand steadily over time. This condition, also known as CHIP (clonal hematopoiesis of indeterminate potential), is associated with an increased risk of blood cancers as well as other chronic illnesses, including heart disease. However, not all those with CHIP develop disease, and some mutant stem cell clones remain stable or even diminish over time, suggesting that inherited and/or environmental factors can restrain or slow CH.

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American Association for the Advancement of Science (AAAS)

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