Friday 3 August 2007
Rare and orphan children cancers (ROCC) are a group of pediatric cancers that represents about two hundred different tumoral entities. Each tumoral entity has its own way of tumorigenesis involving a specific set of mutated genes (cancer genes), abnormally expressed proteins and deregulated molecular signaling pathways. By their low frequency, very few is known about the molecular tumorigenesis of these models.
We think that this tumoral group represent a still unexploited source of unknown oncogenetic data, that would have a very important impact on the identification of unknown chromosomal regions involved in cancer (cancer loci), cancer genes and new signalling pathways. It will help to design new molecules to target those oncogenetic pathways (targeted therapeutics).
For beginning, the study will be centered on rhabdomyosarcomas, hepatoblastomas and orphan pediatric tumors.
The multicentric research project is based on the application of oncogenomics techniques to the study of pediatric tumors: tumoral genotyping by SNP array, high-definition CGH array, DNA methylation genomic profile, gene expression profiling and miRNA detection.
Clinical level: Patient recruitement, blood sampling for DNA extraction
Pathology level: Frozen samples of the tumor, pathological diagnosis, validation of the tumoral frozen sample
Data will be stored in a multicentric Web-accesses database that could integrate very heterogenous data (cytogenetics, CGHarray, SNP genotyping, expression profiling. miRNA).
As pilote projects, we have already implemented three pilote-projects about hepatoblastomas, rhabdomyosarcomas and pediatric orphan tumors. In a collaboration with the Genome Quebec-McGill University Innovation center, we have already performed a tumoral genotyping by SNP array in 40 rare pediatric tumors.