Rare Genetic Variations make Infants Susceptible to Leukemia

A recent study examines how a group of rare genetic variants from both parents can create a potentially deadly combination in infants.

For babies who develop leukemia during their first year of life, they are often highly susceptible to the disease, and can accumulate a critical number of cancer-causing mutations.

"Parents always ask why their child has developed leukemia, and unfortunately we have had few answers," said senior author Todd Druley, MD, PhD, a Washington University pediatric oncologist who treats patients at St. Louis Children's Hospital, via a press release. "Our study suggests that babies with leukemia inherit a strong genetic predisposition to the disease." 

Though these genetic variants inherited from both patients are harmful when separated, researchers note that the combination puts infants at the highest risk for Leukemia.

As this blood cancer rarely occurs in infants, with only around 160 cases diagnosed annually in the United States, Leukemia in infants, unlike children, is often times fatal. While in many cases the blood disorder can be cured in children, for half of infants with the health issue, they will die of the disease.

For the study, researchers sequenced all the genes in the DNA of healthy cells from 23 infants with leukemia and their mothers. While examining the genes in the healthy cells, scientists were able to determine the father's contribution to the child's DNA.

The researchers also sequenced the DNA of 25 healthy children as a control group, with no families carrying histories of pediatric cancers.

"We sequenced every single gene and found that infants with leukemia were born with an excess of damaging changes in genes known to be linked to leukemia," Druley said, via the release. "For each child, both parents carried a few harmful genetic variations in their DNA, and just by chance their child inherited all of these changes." 

Though most infants are unlikely to receive this genetic combination, rather, accumulating additional genetic errors from bone marrow cells, where leukemia originates, can foster cancer development over a short span of time.

For the future, Druley and colleagues said they hope to study these inherited variations in greater detail and learn how they contribute to the development of the cancer.

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More information regarding the study can be found via the journal Leukemia.