Cancer diagnostic profile in children with structural birth defects: An assessment in 15,000 childhood cancer cases

Jeremy M. Schraw, Tania A. Desrosiers, Wendy N. Nembhard, Peter H. Langlois, Robert E. Meyer, Mark A. Canfield, Sonja A. Rasmussen, Tiffany M. Chambers, Logan G. Spector, Sharon E. Plon, Philip J. Lupo

Research output: Contribution to journalArticlepeer-review

12 Scopus citations


BACKGROUND: Birth defects are established risk factors for childhood cancer. Nonetheless, cancer epidemiology in children with birth defects is not well characterized.

METHODS: Using data from population-based registries in 4 US states, this study compared children with cancer but no birth defects (n = 13,111) with children with cancer and 1 or more nonsyndromic birth defects (n = 1616). The objective was to evaluate cancer diagnostic characteristics, including tumor type, age at diagnosis, and stage at diagnosis.

RESULTS: Compared with the general population of children with cancer, children with birth defects were diagnosed with more embryonal tumors (26.6% vs 18.7%; q < 0.001), including neuroblastoma (12.5% vs 8.2%; q < 0.001) and hepatoblastoma (5.0% vs 1.3%; q < 0.001), but fewer hematologic malignancies, including acute lymphoblastic leukemia (12.4% vs 24.4%; q < 0.001). In age-stratified analyses, differences in tumor type were evident among children younger than 1 year and children 1 to 4 years old, but they were attenuated among children 5 years of age or older. The age at diagnosis was younger in children with birth defects for most cancers, including leukemia, lymphoma, astrocytoma, medulloblastoma, ependymoma, embryonal tumors, and germ cell tumors (all q < 0.05).

CONCLUSIONS: The results indicate possible etiologic heterogeneity in children with birth defects, have implications for future surveillance efforts, and raise the possibility of differential cancer ascertainment in children with birth defects.

LAY SUMMARY: Scientific studies suggest that children with birth defects are at increased risk for cancer. However, these studies have not been able to determine whether important tumor characteristics, such as the type of tumor diagnosed, the age at which the tumor is diagnosed, and the degree to which the tumor has spread at the time of diagnosis, are different for children with birth defects and children without birth defects. This study attempts to answer these important questions. By doing so, it may help scientists and physicians to understand the causes of cancer in children with birth defects and diagnose cancer at earlier stages when it is more treatable.

Original languageEnglish (US)
Pages (from-to)3483-3492
Number of pages10
Issue number15
StatePublished - Aug 1 2020

Bibliographical note

Funding Information:
Wendy N. Nembhard reports grants from the Centers for Disease Control and Prevention, the March of Dimes, and the National Institutes of Health outside the submitted work. Sharon E. Plon reports nonfinancial support from Baylor Genetics Laboratories outside the submitted work. The other authors made no disclosures.

Funding Information:
This study was funded by Alex's Lemonade Stand Foundation (Epidemiology Grant), the Cancer Prevention and Research Institute of Texas (RP140258, RP170071, and RP160097), and the National Cancer Institute (3P30CA125123‐0851).

Publisher Copyright:
© 2020 American Cancer Society


  • birth defects
  • cancer predisposition
  • childhood cancer
  • epidemiology


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