Cancer incidence and spectrum among children with genetically confirmed Beckwith-Wiedemann spectrum in Germany : A retrospective cohort study
| Autor: | Ruediger Klaes, Thomas Eggermann, Gundula Kadgien, Sümeyye Cöktü, Cornelia Kraus, Melanie Kaiser, Alf Beckmann, Nadine Bachmann, Jürgen Kohlhase, Christian P. Kratz, Martin Zenker, Stephanie Kleinle, Michael Kutsche, Claudia Nevinny-Stickel-Hinzpeter, Saskia Biskup, Claudia Spix, Dirk Prawitt, Jasmin Beygo, Nicolai Kohlschmidt, Steffi Döhnert, Inga Vater |
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| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
Male
Oncology Cancer Research medicine.medical_specialty Hepatoblastoma Beckwith-Wiedemann Syndrome Adolescent Population Medizin Article Paediatric cancer 03 medical and health sciences Cancer epidemiology 0302 clinical medicine Cancer epigenetics Germany Neoplasms Internal medicine Genotype medicine Humans Registries Child education Retrospective Studies 030304 developmental biology 0303 health sciences Childhood Cancer Registry education.field_of_study business.industry Chromosomes Human Pair 11 Incidence Infant Cancer Astrocytoma Retrospective cohort study Uniparental Disomy medicine.disease Child Preschool 030220 oncology & carcinogenesis Cohort Female business |
| Zdroj: | British Journal of Cancer |
| Popis: | Background Beckwith-Wiedemann syndrome (BWS) is a cancer predisposition syndrome caused by defects on chromosome 11p15.5. The quantitative cancer risks in BWS patients depend on the underlying (epi)genotype but have not yet been assessed in a population-based manner. Methods We identified a group of 321 individuals with a molecularly confirmed diagnosis of BWS and analysed the cancer incidence up to age 15 years and cancer spectrum by matching their data with the German Childhood Cancer Registry. Results We observed 13 cases of cancer in the entire BWS cohort vs 0.4 expected. This corresponds to a 33-fold increased risk (standardised incidence ratio (SIR) = 32.6; 95% confidence interval = 17.3-55.7). The specific cancers included hepatoblastoma (n = 6); nephroblastoma (n = 4); astrocytoma (n = 1); neuroblastoma (n = 1) and adrenocortical carcinoma (n = 1). The cancer SIR was highest in patients with a paternal uniparental disomy of 11p15.5 (UPDpat). A high cancer risk remained when cases of cancer diagnosed prior to the BWS diagnosis were excluded. Conclusions This study confirms an increased cancer risk in children with BWS. Our findings suggest that the highest cancer risk is associated with UPDpat. We were unable to confirm an excessive cancer risk in patients with IC1 gain of methylation (IC1-GOM) and this finding requires further investigation. |
| Databáze: | OpenAIRE |
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