Project description:We aim to describe the transcriptomic landscape of infant spindle cell tumours. .
This dataset contains all the data available for this study on 2019-04-11.
Project description:Neuroblastoma (NB) tumours have the highest incidence of spontaneous remission, especially among the stage 4s NB subgroup affecting infants. Clinical distinction of stage 4s from lethal stage 4 can be difficult, but critical for therapeutic decisions. The aim of this study was to investigate differential gene expression amongst infant disseminated NB subgroups. Thirty-five NB tumours from patients diagnosed at < 18 months (25 stage 4 and 10 stage 4s), were evaluated gene expression analyses. Initial comparison analyses between stage 4s and 4 < 12 months tumours revealed distinct gene expression profiles. A significant portion of genes mapped to chromosome 1 (p<0.0001), 90% with higher expression in stage 4s, and chromosome 11 (p=0.0054), 91% with higher expression in stage 4. Less definite expression profiles were observed between stage 4s and 4 < 18m, yet, association with chromosomes 1 (p<0.0001) and 11 (p=0.005) was maintained. Distinct gene expression profiles but no significant association with specific chromosomal region localization was observed between stage 4s and stage 4 < 18 months without MYCN amplification. Distinct gene expression profiles characterize spontaneously regressing or aggressive infant NB, providing the biological basis for the distinct clinical behaviour.
Project description:B-cell acute lymphoblastic leukemia (B-ALL) is the most prevailing childhood cancer. As predicated by its prenatal origin, infant B-ALL (iB-ALL) show a silent mutational landscape irrespective of the MLL rearrangement/status, suggesting that other regulatory mechanisms might be impaired in the context of the disease. Here we used the most recent Illumina MethylationEPIC Beadchip platform to describe the genome-wide DNA methylation changes observed in a total of 69 de novo MLL-AF4+, MLL-AF9+ and non-rearranged MLL iB-ALL leukemias uniformly treated according to Interfant 99/06 protocol. Please note that samples X8 and X9 (pool of B cells and BCP) correspond to samples 200340580160_R08C01 and 200340580161_R07C01 from study E-MTAB-6315, respectively.
Project description:Methylation array profiling of infant high grade gliomas identifies an intrinsic group of tumours with epigenetic profiles distinct from gliomas in older children. These tumours are characterised by very few recurrent mutations and carry a very high frequency of fusion genes. They can be diagnosed according to their methylation profile and novel treatments are available targeting the different fusion genes.
Project description:Methylation array profiling of infant high grade gliomas identifies an intrinsic group of tumours with epigenetic profiles distinct from gliomas in older children. These tumours are characterised by very few recurrent mutations and carry a very high frequency of fusion genes. They can be diagnosed according to their methylation profile and novel treatments are available targeting the different fusion genes.
Project description:In this study we explored the genotype of Infant ALL to detect MLL-cooperating aberrations, hidden to conventional techniques. In order to limit further heterogeneity, we focused on patients carrying the t(4;11) translocation, the most frequent genetic abnormality in Infant ALL. Final aim was to get new insights into the leukemia pathogenesis of this rare and aggressive disease, as well as providing the basis for discovering new genes for targeted therapy.
