TY - JOUR
T1 - Congenital abnormalities and hepatoblastoma
T2 - A report from the Children's Oncology Group (COG) and the Utah Population Database (UPDB)
AU - Venkatramani, Rajkumar
AU - Spector, Logan G.
AU - Georgieff, Michael
AU - Tomlinson, Gail
AU - Krailo, Mark
AU - Malogolowkin, Marcio
AU - Kohlmann, Wendy
AU - Curtin, Karen
AU - Fonstad, Rachel K.
AU - Schiffman, Joshua D.
PY - 2014/9
Y1 - 2014/9
N2 - Beckwith-Wiedemann Syndrome (BWS) and familial adenomatous polyposis (FAP) are known to predispose to hepatoblastoma (HB). A case-control study was conducted through the Children's Oncology Group (COG) to study the association of HB with isolated congenital abnormalities. Cases (N=383) were diagnosed between 2000 and 2008. Controls (N=387) were recruited from state birth registries, frequency matched for sex, region, year of birth, and birth weight. Data on congenital abnormalities among subjects and covariates were obtained by maternal telephone interview. Odds ratios (OR) and 95% confidence intervals (CI) describing the association between congenital abnormalities with HB, adjusted for sex, birth weight, maternal age and maternal education, were calculated using unconditional logistic regression. There was a significant association of HB with kidney, bladder, or sex organ abnormalities (OR=4.75; 95% CI: 1.74-13) which appeared to be specific to kidney/bladder defects (OR=4.3; 95% CI: 1.2-15.3) but not those of sex organs (OR=1.24; 95% CI: 0.37-4.1). Elevated but non-significant ORs were found for spina bifida or other spinal defects (OR=2.12; 95% CI: 0.39-11.7), large or multiple birthmarks (OR=1.33; 95% CI: 0.81-2.21). The results were validated through the Utah Population Database (UPDB), a statewide population-based registry linking birth certificates, medical records, and cancer diagnoses. In the UPDB, there were 29 cases and 290 population controls matched 10:1 on sex and birth year. Consistent with the COG findings, kidney/bladder defects were associated with hepatoblastoma. These results confirm the association of HB with kidney/bladder abnormalities.
AB - Beckwith-Wiedemann Syndrome (BWS) and familial adenomatous polyposis (FAP) are known to predispose to hepatoblastoma (HB). A case-control study was conducted through the Children's Oncology Group (COG) to study the association of HB with isolated congenital abnormalities. Cases (N=383) were diagnosed between 2000 and 2008. Controls (N=387) were recruited from state birth registries, frequency matched for sex, region, year of birth, and birth weight. Data on congenital abnormalities among subjects and covariates were obtained by maternal telephone interview. Odds ratios (OR) and 95% confidence intervals (CI) describing the association between congenital abnormalities with HB, adjusted for sex, birth weight, maternal age and maternal education, were calculated using unconditional logistic regression. There was a significant association of HB with kidney, bladder, or sex organ abnormalities (OR=4.75; 95% CI: 1.74-13) which appeared to be specific to kidney/bladder defects (OR=4.3; 95% CI: 1.2-15.3) but not those of sex organs (OR=1.24; 95% CI: 0.37-4.1). Elevated but non-significant ORs were found for spina bifida or other spinal defects (OR=2.12; 95% CI: 0.39-11.7), large or multiple birthmarks (OR=1.33; 95% CI: 0.81-2.21). The results were validated through the Utah Population Database (UPDB), a statewide population-based registry linking birth certificates, medical records, and cancer diagnoses. In the UPDB, there were 29 cases and 290 population controls matched 10:1 on sex and birth year. Consistent with the COG findings, kidney/bladder defects were associated with hepatoblastoma. These results confirm the association of HB with kidney/bladder abnormalities.
KW - Beckwith-Wiedemann syndrome
KW - Case-control study
KW - Congenital abnormality
KW - Congenital anomaly
KW - Familial adenomatous polyposis
KW - Hepatoblastoma
KW - Kidney abnormalities
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U2 - 10.1002/ajmg.a.36638
DO - 10.1002/ajmg.a.36638
M3 - Article
C2 - 24934283
AN - SCOPUS:84905904998
SN - 1552-4825
VL - 164
SP - 2250
EP - 2255
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 9
ER -