Congenital Neurodevelopment Anomalies in Pediatric and Young Adult Cancer

December 18, 2017

Drs. Todd Druley and Kimberly Johnson are co-authors of a publication discussing congenital anomalies found in pediatric and young adult cancer patients. 

Assistant Professor, Pediatrics, Developmental Biology and Genetics and Co Director, Pediatric Cancer Predisposition Program
Associate Professor, Brown School

Congenital anomalies are the leading cause of infant death, and are diagnosed in at least 120,000 U.S. infants every year. These irregularities contribute to a large number of pediatric hospitalizations and can lead to disability as well.

Several studies have shown evidence for an increased risk of cancer in children with congenital anomalies, suggesting potential underlying cancer-predisposing conditions and the involvement of developmental genetic pathways. In an attempt to better understood the etiology of most childhood malignancies, the authors of the study sought to review electronic medical records from 1,107 pediatric, adolescent, and young adult oncology patients.

The authors found that thirteen percent of patients had a congenital anomaly diagnosis prior to their diagnosis of cancer. Specifically, they found an excess of neurological anomalies among children with central nervous system tumors. While not significant, the authors’ results suggest an increased prevalence of anomalies and neurological tumors in males compared to females, which may be due to developmental differences.

Overall, the study provides insight into associations between certain congenital anomaly types and pediatric cancer development. Not only do the findings support research investigating tumor redisposition in children with congenital anomalies, but it also may aid in the improvement of pediatric screening policies.

Read the full study published July 14, 2017 in the American Journal of Medical Genetics.