Non-syndromic and Syndromic Defects in Children with Extracranial Germ Cell Tumors (eGCT): Data of 2,610 Children Registered with the German MAKEI 96/MAHO 98 Registry Compared to the General Population

Judit Schultewolter; Anke K. Rißmann; Dietrich Von Schweinitz; Michael Frühwald; Claudia Blattmann; Lars Fischer; Bjoern Soenke Lange; Rüdiger Wessalowski; Birgit Fröhlich; Wolfgang Behnisch; Irene Schmid; Harald Reinhard; Matthias Duerken; Patrick Hundsdoerfer; Martin Heimbrodt; Christian Vokuhl; Stefan Schönberger; Dominik T. Schneider; Guido Seitz; Ulrich Göbel; Rüdiger Von Kries; Heiko M. Reutter; Gabriele Calaminus

doi:10.20944/preprints202404.1550.v1

Preprint Article Version 1 Preserved in Portico This version is not peer-reviewed

Version 1 : Received: 22 April 2024 / Approved: 23 April 2024 / Online: 23 April 2024 (16:59:48 CEST)

GCTs are developmental tumors and likely to reflect ontogenetic and teratogenetic determinants. The objective 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 used. 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 and p-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 17 isolated cases of eGCT with a wide range of syndromes, however not significantly associated following Bonferroni correction. All 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.

germ cell tumor; syndrome; non-syndromic defect

Medicine and Pharmacology, Pediatrics, Perinatology and Child Health

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Non-syndromic and Syndromic Defects in Children with Extracranial Germ Cell Tumors (eGCT): Data of 2,610 Children Registered with the German MAKEI 96/MAHO 98 Registry Compared to the General Population

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