Risk of carcinomas among children and adolescents with birth defects

Menée à l'aide de données 1990-2018 de registres portant sur 22 millions d'enfants, cette étude analyse l'association entre des malformations congénitales et le risque de carcinome pédiatrique thyroïdien, hépatocellulaire et rénal (833 cas)

Cancer Epidemiology, Volume 95, Page 102748, 2025, résumé

Résumé en anglais

Background: Birth defects are associated with childhood cancer, but little is known regarding pediatric carcinomas, a group of especially rare tumors.

Methods: We used Cox proportional hazards regression to estimate the hazard ratio (HR) and 95 % confidence interval (CI) for any carcinoma, as well as thyroid, hepatocellular, and renal carcinoma specifically, up to 18 years of age among children with major, non-syndromic anomalies or chromosomal/genetic syndromes, relative to unaffected children.

Results: Our registry-linkage study included nine states and 21,933,476 children between 1990 and 2018: 641,827 with non-syndromic anomalies, and 49,619 with syndromes. Carcinomas were diagnosed in 833 children, including 35 with non-syndromic anomalies and eight with syndromes. The hazard of carcinoma was increased both among children with non-syndromic anomalies (HR: 1.7, CI: 1.2–2.4; N = 35) and syndromes (HR: 4.7, CI: 2.3–9.5; N = 7). Hepatocellular carcinoma was associated with non-syndromic anomalies (HR: 4.6, CI: 2.2–9.7; N = 8) and syndromes (HR: 8.0, CI: 1.1–58.1; N < 5). The hazard of renal carcinoma was markedly increased in children with tuberous sclerosis (HR 59.6, CI: 23.7–149.5; N = 5), a known cause of renal cancer. Thyroid carcinoma was not associated with non-syndromic anomalies or syndromes.

Conclusion: Birth defects are associated with hepatocellular and renal carcinoma in children.