Hepatoblastoma (HB) is a rare pediatric tumor which comprises the majority of liver cancer in children. Previous research has established that Beckwith-Wiedemann Syndrome (BWS) and Familial Adenomatous Polyposis (FAP) predispose to HB, but information on its association with isolated congenital abnormalities is sparse. We examined data from a case-control study of HB conducted through the Children's Oncology Group (COG). Cases were diagnosed by COG institutions during 2000-2008 and controls were recruited from state birth registries, frequency matched for sex, region, year of birth, and low birth weight (a strong risk factor for HB). Data on congenital abnormalities among subjects and covariates were obtained by maternal telephone interview. There were 359 cases and 372 controls included in this analysis, which comprises approximately 90% of the final sample. Odds ratios (OR) and 95% confidence intervals (CI) describing the association between congenital abnormalities with HB, adjusted for birth weight and sex, were calculated using unconditional logistic regression. Twelve cases were reported to have BWS and 4 to have FAP, while no controls had either condition; further analyses excluded abnormalities among children with these syndromes to better examine isolated defects. There was a significant association of HB with kidney, bladder, or sex organ abnormalities (OR = 4.22; 95% CI: 1.57-11.29) which appeared to be specific to kidney/bladder defects (OR = 5.24; 95% CI: 1.40-19.59) but not those of sex organs (OR = 1.58; 95% CI: 0.45-5.55). Elevated but non-significant ORs were found for spina bifida or other spinal defects (OR = 2.39; 95% CI: 0.40-14.07), large or multiple birthmarks (OR = 1.63; 95% CI: 0.97-2.76). No significant associations of cleft lip or palate, Down syndrome or other numerical chromosomal anomalies, microcephaly, or rib abnormalities, although <4 subjects were reported to have each of these defects, precluding precise estimation of ORs. These results confirm the previously noted associations of HB with BWS and FAP, and further suggest a novel association with kidney/bladder abnormalities. Supported by NIH CA111355, and the Children's Cancer Research Fund, Minneapolis, MN.

Citation Format: {Authors}. {Abstract title} [abstract]. In: Proceedings of the 101st Annual Meeting of the American Association for Cancer Research; 2010 Apr 17-21; Washington, DC. Philadelphia (PA): AACR; Cancer Res 2010;70(8 Suppl):Abstract nr 3774.