US Pharm. 2018;43(5)(Specialty&Oncology suppl):16-18.
Researchers from St. Jude Children’s Research Hospital in New York have made a discovery that expands to four the list of genes to include when screening individuals for possible increased susceptibility to childhood leukemia. The finding was reported online in the journal Cancer Cell.
The newly added gene is IKZF1, which encodes the transcription factor IKAROS that regulates gene expression. IKZF1 is the fourth gene identified that—along with 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% of patients with B-cell ALL, the most common pediatric ALL, also carried germline variations in IKZF1. Germline variants are usually inherited and 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 recognized inherit a predisposition to develop ALL,” said Charles Mullighan, MBBS, MD, a member of the St. Jude Department of Pathology.
