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

A peer-reviewed article of this Preprint also exists.

Schultewolter, J.H.; Rissmann, A.; von Schweinitz, D.; Frühwald, M.; Blattmann, C.; Fischer, L.; Lange, B.S.; Wessalowski, R.; Fröhlich, B.; Behnisch, W.; Schmid, I.; Reinhard, H.; Dürken, M.; Hundsdörfer, P.; Heimbrodt, M.; Vokuhl, C.; Schönberger, S.; Schneider, D.T.; Seitz, G.; Looijenga, L.; Göbel, U.; von Kries, R.; Reutter, H.; Calaminus, G. Non-Syndromic and Syndromic Defects in Children with Extracranial Germ Cell Tumors: Data of 2610 Children Registered with the German MAKEI 96/MAHO 98 Registry Compared to the General Population. Cancers 2024, 16, 2157. Schultewolter, J.H.; Rissmann, A.; von Schweinitz, D.; Frühwald, M.; Blattmann, C.; Fischer, L.; Lange, B.S.; Wessalowski, R.; Fröhlich, B.; Behnisch, W.; Schmid, I.; Reinhard, H.; Dürken, M.; Hundsdörfer, P.; Heimbrodt, M.; Vokuhl, C.; Schönberger, S.; Schneider, D.T.; Seitz, G.; Looijenga, L.; Göbel, U.; von Kries, R.; Reutter, H.; Calaminus, G. Non-Syndromic and Syndromic Defects in Children with Extracranial Germ Cell Tumors: Data of 2610 Children Registered with the German MAKEI 96/MAHO 98 Registry Compared to the General Population. Cancers 2024, 16, 2157.

Abstract

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.

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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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