Venkatramani Rajkumar, Spector Logan G, Georgieff Michael, Tomlinson Gail, Krailo Mark, Malogolowkin Marcio, Kohlmann Wendy, Curtin Karen, Fonstad Rachel K, Schiffman Joshua D
Division of Hematology/Oncology, Children's Hospital Los Angeles, Los Angeles, California; Department of Pediatrics, Keck School of Medicine, University of Southern California, Los Angeles, California.
Am J Med Genet A. 2014 Sep;164A(9):2250-5. doi: 10.1002/ajmg.a.36638. Epub 2014 Jun 16.
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.
已知贝克威思-维德曼综合征(BWS)和家族性腺瘤性息肉病(FAP)易引发肝母细胞瘤(HB)。通过儿童肿瘤学组(COG)开展了一项病例对照研究,以探究HB与孤立性先天性异常之间的关联。病例组(N = 383)为2000年至2008年间确诊的患者。对照组(N = 387)从各州出生登记处招募,在性别、地区、出生年份和出生体重方面进行频率匹配。通过对母亲进行电话访谈获取受试者先天性异常及协变量的数据。使用无条件逻辑回归计算经性别、出生体重、母亲年龄和母亲教育程度校正后的,描述先天性异常与HB之间关联的比值比(OR)和95%置信区间(CI)。HB与肾脏、膀胱或性器官异常之间存在显著关联(OR = 4.75;95% CI:1.74 - 13),这似乎特定于肾脏/膀胱缺陷(OR = 4.3;95% CI:1.2 - 15.3),而与性器官异常无关(OR = 1.24;95% CI:0.37 - 4.1)。脊柱裂或其他脊柱缺陷(OR = 2.12;95% CI:0.39 - 11.7)、大面积或多发性胎记(OR = 1.33;95% CI:0.81 - 2.21)的OR值升高但无统计学意义。研究结果通过犹他州人口数据库(UPDB)得到验证,该数据库是一个全州范围的基于人群的登记系统,将出生证明、医疗记录和癌症诊断信息相链接。在UPDB中,有29例病例和290名人群对照,在性别和出生年份上按10:1进行匹配。与COG的研究结果一致,肾脏/膀胱缺陷与肝母细胞瘤相关。这些结果证实了HB与肾脏/膀胱异常之间的关联。