METHODS: Maternally reported congenital abnormalities (CAs) were examined in a case -control study of 278 cases of paediatric germ cell tumours (GCTs) and 423 controls. RESULTS AND CONCLUSIONS: Germ cell tumours were significantly associated with cryptorchidism in males (OR ¼ 10.8, 95% CI: 2.1 -55.1), but not with any other specific CA in either sex. The risk factors for paediatric germ cell tumours (GCTs), which comprise a histologically heterogeneous group of tumours affecting an estimated 360 individuals o15 years of age each year in the United States (Bernstein et al, 1999; US Census Bureau, 2007), have not been well described (Bernstein et al, 1999). However, congenital abnormalities (CAs) have often been reported in association with GCTs in case series and in record linkage studies (Li and Fraumeni, 1972;Fraumeni et al, 1973;Li et al, 1973;Birch et al, 1982;Mann et al, 1993;Altmann et al, 1998;Little, 1999;Nishi et al, 2000;Merks et al, 2005;Bjorge et al, 2008;Rankin et al, 2008). The presence of cryptorchidism is a confirmed risk factor for testicular GCTs in men (Sarma et al, 2006), but its association with paediatric GCTs has not been as well studied. We evaluated the association between certain CAs and childhood GCTs by sex, age at diagnosis, anatomical location, and histology in a Children's Oncology Group (COG) study.
MATERIALS AND METHODSThe study protocol was approved by the Institutional Review Boards of the University of Minnesota and by the participating COG institutions. Details regarding this study have been described previously (Chen et al, 2005). Briefly, GCT cases with malignant extracranial tumours, diagnosed from the time of birth to 14 years of age between 1 January 1993 and 31 December 2001, were ascertained from US and Canadian COG hospitals. Eligible diagnoses were dysgerminoma-seminoma-germinoma, embryonal carcinoma, yolk sac tumour, choriocarcinoma, malignant teratoma, and mixed GCTs. Controls were recruited through random digit dialling, and frequency was matched to cases on sex and birth year ± 1 year, at ratios of approximately 1 : 2 for males and 1 : 1 for females. Cases and controls were eligible if they had a telephone in their residence and if their biological mother spoke English and consented to an interview. Participation rates were 81 and 67% for cases and controls, respectively. Exposure information was collected from mothers by telephone interview, including the seven CA categories shown in Table 3.
Statistical analysesWe used SAS version 9.1. (SAS Institute Inc., Cary, NC, USA) to conduct statistical analyses. Statistical differences in the frequency or means of sociodemographic and infant characteristics between cases and controls were assessed using Mantel -Haenszel w 2 tests and one-way analysis of variance. We used unconditional logistic regression to examine the associations between CAs and GCTs, adjusting for the matching factors, sex and child's age. We conducted analyses stratified by sex, age at diagnosis (p2, 42 years), tumour histology, and anatomical locat...