Eureka Alert

IMAGE: These are Charles Mullighan, MBBS, M.D., Michelle Churchman Ph.D., Max Qian PhD, Jun Yang Ph.D. view more 

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Credit: St. Jude Children’s Research Hospital / Seth Dixon

St. Jude Children’s Research Hospital researchers have made a discovery that expands the list of genes to include when screening individuals for possible increased susceptibility to childhood leukemia. The finding is reported online today in the journal Cancer Cell.

The gene is IKZF1, which encodes the transcription factor IKAROS that regulates gene expression. IKZF1 is the fourth gene identified that–like the genes TP53, ETV6 and PAX5–can predispose carriers to develop B-cell acute lymphoblastic leukemia (ALL). Variants in IKZF1 can also influence how some patients respond to treatment.

Researchers found a rare IKZF1 germline variant in three generations of a German family affected by pediatric ALL. St. Jude researchers then analyzed data from almost 5,000 young ALL patients and found that 0.9 percent of patients with B-cell ALL, the most common pediatric ALL, also carried germline variations in IKZF1. Germline variants are usually inherited, carried in DNA found in most cells.

“This finding adds to the growing body of evidence that, while germline variations still account for a small percentage of pediatric ALL cases overall, more children than previously


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