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Birth Defects and Pediatric Cancer: An Interview With Philip J. Lupo, PhD, MPH

Philip J. Lupo, PhD, MPH.

In their recently published study, Philip J. Lupo, PhD, MPH, and colleagues found that both chromosomal anomalies and nonchromosomal birth defects significantly increase a child's risk of receiving a cancer diagnosis before his or her 18th birthday. In this interview with i3 Health, Dr. Lupo discusses his findings and the future directions of this research.

Can you comment on the significance of your results concerning the link between birth defects and pediatric cancer risk?

Philip J. Lupo, PhD, MPH: Our work confirms the role of birth defects in cancer risk and provides new evidence on the specific birth defects and specific cancers that warrant more comprehensive research. We hope that this information can guide our understanding of why birth defects and childhood cancer occur, knowledge which could ultimately help us better treat and prevent these conditions.

Were you surprised by any of the associations that you found?

Dr. Lupo: While we were not surprised by our findings, we did observe some notable associations. For instance, some birth defects were associated with higher risk of most cancers, whereas others, such as oral clefts, were not strongly associated with any childhood cancers. On the other hand, some cancer types—in particular neuroblastoma, hepatoblastoma, and germ cell tumors—were associated with nearly every type of birth defect. Finally, we think it was important that there was a clear gradient in risk of cancer with increasing numbers of birth defects.

How do you hope that your results will impact clinical practice for children with birth defects?

Dr. Lupo: The clinical implications of this research for children with birth defects are limited at present, as most children with birth defects will not develop cancer (the absolute risk was far below 1%). If genes that explain this risk are identified in the future, that could trigger genetic testing for a subset of children with birth defects. However, it is too soon to make specific recommendations at this time.

What mechanisms do you suspect may underlie the association between birth defects and childhood cancers?

Dr. Lupo: While we were not able to assess this question in our work, we believe that these associations may be due to several mechanisms, which may possibly be interacting with each other. First, there could be genes that underlie the development of both birth defects and childhood cancer. Second, it is possible that environmental exposures during pregnancy could lead to the co-occurrence of these conditions. Third, there is some evidence that early-life exposures encountered by children with birth defects may also predispose them to cancer. We hope to explore all of these mechanisms in our future work.

About Dr. Lupo

Philip J. Lupo, PhD, MPH, a genetic epidemiologist with a focus on susceptibility to pediatric cancer and birth defects, is an Associate Professor of Pediatrics and Hematology-Oncology at Baylor College of Medicine and a member of the Dan L. Duncan Comprehensive Cancer Center. In addition, he is Co-Director of the Childhood Cancer Epidemiology and Prevention Program at Texas Children's Cancer Center of Texas Children's Hospital in Houston. Dr. Lupo serves as President-Elect of the National Birth Defects Prevention Network Data Committee and Chair of the Children's Oncology Group (COG) Epidemiology Committee.

For More Information

Lupo PJ, Schraw JM, Desrosiers TA, et al (2019). Association between birth defects and cancer risk among children and adolescents in a population-based assessment of 10 million live births. JAMA Oncol. [Epub ahead of print] DOI:10.1001/jamaoncol.2019.1215

Transcript edited for clarity. Any views expressed above are the speaker's own and do not necessarily represent those of i3 Health.


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