GCTs are developmental tumors and are likely to reflect ontogenetic and teratogenetic determinants. The objective of this study was to identify syndromes with or without congenital anomalies and non-syndromic defects as potential risk factors. Patients with extracranial GCTs (eGCTs) registered in MAKEI 96/MAHO 98 between 1996 and 2017 were included. According to Teilum’s holistic concept, malignant and benign teratomas were registered. We used a case–control study design with Orphanet as a reference group for syndromic defects and the Mainz birth registry (EUROCAT) for congenital anomalies at birth. Co-occurring genetic syndromes and/or congenital anomalies were assessed accordingly. Odds ratios and 95% confidence intervals were calculated andp-values for Fisher’s exact test with Bonferroni correction if needed. A strong association was confirmed for Swyer (OR 338.6, 95% CI 43.7–2623.6) and Currarino syndrome (OR 34.2, 95% CI 13.2–88.6). We additionally found 16 isolated cases of eGCT with a wide range of syndromes. However, these were not found to be significantly associated following Bonferroni correction. Most of these cases pertained to girls. Regarding non-syndromic defects, no association with eGCTs could be identified. In our study, we confirmed a strong association for Swyer and Currarino syndromes with additional congenital anomalies.
生殖细胞肿瘤属于发育性肿瘤，很可能反映个体发育与畸胎发生过程中的决定因素。本研究旨在识别伴有或不伴先天异常的综合征性缺陷以及非综合征性缺陷作为潜在风险因素。研究纳入了1996年至2017年间在MAKEI 96/MAHO 98系统中登记的所有颅外生殖细胞肿瘤患者。根据Teilum的整体概念，研究同时纳入了恶性和良性畸胎瘤病例。我们采用病例对照研究设计，以Orphanet数据库作为综合征性缺陷的参照组，以美因茨出生登记系统（EUROCAT）作为出生时先天异常的参照组。对共存的遗传综合征和/或先天异常进行了相应评估。计算了比值比及95%置信区间，并在需要时采用Bonferroni校正进行Fisher精确检验。研究证实Swyer综合征（比值比338.6，95%置信区间43.7–2623.6）和Currarino综合征（比值比34.2，95%置信区间13.2–88.6）与疾病存在强相关性。此外还发现16例散发的颅外生殖细胞肿瘤病例伴发多种综合征，但经Bonferroni校正后均未呈现显著相关性，其中多数为女性患者。在非综合征性缺陷方面，未发现其与颅外生殖细胞肿瘤存在关联。本研究证实Swyer综合征和Currarino综合征与附加先天异常存在显著关联。
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