Abstract 1821: International Study of Embryonal Tumors
Authors: Hung Rayjean J. , Birch Jill , Buffler Patricia , Ribeiro Karina , Bencko Vladimir , Clavel Jacqueline , de Camargo Beatriz , Chu Anna , Fujimoto Junichiro , Koifman Sérgio , Kurkure Purna , Merletti Franco , Milne Liz , Ognjanovic Simona , Pombo Maria do Socorro , Roeleveld Nel , Sakamoto Naoko , Scelo Ghislaine , Boffetta Paolo , Brennan Paul 
Published: February 2011

Abstract
Background
The International Study on Embryonal Tumours (ISET) was initiated by epidemiologists and pediatric clinicians in 13 countries worldwide including 7 in Europe (UK, the Netherlands, Italy France, Serbia, Macedonia, Czech Republic), 3 in America (California USA, Canada, Brazil), and 3 in Asia / Oceania (India, Japan, and Australia), in collaboration with the International Agency for Research on Cancer. The study is focused on the etiology of non-CNS embryonal tumors which have been severely under-studied to date. Due to their rarity, past studies of these tumors have been underpowered and an international effort is required to accrue sufficient numbers of cases. The full study will include retinoblastoma, Wilms tumor, rhabdomyosarcoma, neuroblastoma and hepatoblastoma. Our main objective is to conduct a comprehensive study to investigate the effect of perinatal factors, molecular profiles and gene-environment interaction on the risk of these tumors.
Methods
This study is based on a case-control trio design, which has been shown to be a powerful design for genetic association and it is robust against the bias due to population stratification. For childhood cancer, the parent-child trio design is particularly appropriate as it can be used to study maternal-fetal effects and parent of origin such as imprinting.
We collect information on parental environmental exposure history, medical and family history, as well as data on neonatal and infancy history of the index child by detailed interview with a standardized questionnaire. We obtain DNA samples from the trios. Tumor samples will also be collected in collaboration with clinical trials groups for disease characterization. We plan to investigate the effect of perinatal factors and incorporate molecular profiles of the trios such as epigenetic aberration, germline variation and DNA repair capacity, to conduct comprehensive investigations on gene-environment interactions.
Results
The pilot study of Wilms tumor and neuroblastoma has been launched in Australia, France, Czech Republic, Serbia, Macedonia and Canada in 2009 and 2010. The estimated number of patients to be recruited varies by study center and cancer site, with a total of approximately 1400 per year (including 640 Wilms tumor and 400 neuroblastoma). The participation rate for case trios is between 70-80%, and among the participating families, more than 95% are willing to provide biological samples. The results of the pilot study will be presented. The pilot results also indicate that the adjustment of study protocol and questionnaire to local requirement is necessary for multicenter study at international scale.
Discussion
ISET Investigators aim to improve the understanding of etiology and pathogenesis of these tumors, providing new tools for their prevention and control. Greater understanding of factors leading to the development of these tumors may improve surveillance, diagnosis, prognosis, and treatment of these childhood malignancies.
Citation Format: {Authors}. {Abstract title} [abstract]. In: Proceedings of the 101st Annual Meeting of the American Association for Cancer Research; 2010 Apr 17-21; Washington, DC. Philadelphia (PA): AACR; Cancer Res 2010;70(8 Suppl):Abstract nr 1821.