Gene Variation Leaves Patients With Leukemia At Risk for Peripheral Neuropathy

Researchers screened patient DNA for almost 1 million common inherited genetic variations and found that 60.8% of those who inherited two copies of a variation in a gene named CEP72developed peripheral neuropathy

Children being treated for leukemia who also inherited two copies of a certain type of gene were at an increased risk of developing peripheral neuropathy, according to a study published online in the Journal of the American Medical Association

Researchers from St. Jude Children’s Research Hospital examined 321 children and adolescents whose acute lymphoblastic leukemia (ALL) treatment included between 36 and 39 doses of the drug vincristine. The researchers noted that 60.8% of those children who inherited two copies of a variation in the gene named CEP72 developed peripheral neuropathy. 

Vincristine-related peripheral neuropathy was diagnosed in 23.4% of patients who inherited at least one of the more common versions of CEP72. The researchers noted that the newly-identified CEP72 variant also increased the sensitivity of cancer cells to vincristine. 

The genetic variant identified in this study was linked to a greater risk of peripheral neuropathy even when researchers took other risk factors into account, including race and the prescribed dose of medication. 

In this study, the researchers “identified a possible reason why some people experience a serious side effect of the medication—debilitating nerve pain,” Rochelle Long, PhD, director of the National Institutes of Health Pharmacogenomics Research Network said in a press release about the study. “This genetic insight will help scientists devise treatment plans that ensure safety and effectiveness as well as the long-term quality of life for children with ALL.”


1. Diouf B, et al. JAMA. 2015; 313(8):815-823.