Scientists Map Leukemia Origins in Down Syndrome Infants, Offer Prevention Hope
Scientists have made a groundbreaking discovery about leukemia in infants with Down syndrome. For the first time, researchers at Princess Margaret have mapped the origins and development of this condition, shedding light on its early stages and potential prevention.
The study, published in Science, reveals that the risk of myeloid leukemia in Down syndrome children is 150 times higher than in the general population within the first five years of life. The journey begins with an extra copy of chromosome 21, a characteristic of Down syndrome, and a specific mutation in the GATA1 gene. These initial changes occur in long-term hematopoietic stem cells (HSCs) in the fetal liver as early as the second trimester.
The research team, led by Dr. John Dick, found that these altered HSCs are the sole origin of preleukemia in Down syndrome, and further mutations in their progeny lead to acute leukemia. A small molecule, CD117/KIT inhibitors, has shown potential in preventing the progression of preleukemia to acute leukemia. This inhibitor targets a unique protein marker on the altered stem cells, preventing their excessive proliferation. The study was supported by the Human Frontier Science Program and The Leukemia & Lymphoma Society.
This pioneering work provides a clear understanding of how leukemia develops in Down syndrome infants and offers a potential avenue for prevention. By targeting the CD117/KIT protein, doctors may now have a tool to halt the progression of preleukemia to acute leukemia, potentially saving many young lives.
