Publications by authors named "Vincenzo Aievola"
Article Synopsis
- The study investigates the potential role of variants in the HLA region in contributing to neuroblastoma (NB) susceptibility, utilizing genetic data from 724 NB patients and 2863 matched controls.
- Researchers employed whole-exome sequencing and multiple typing tools to accurately identify HLA alleles and ensured sample quality by matching ancestry, finding significant associations with certain HLA alleles (HLA-DQB1*05:02 and HLA-DRB1*16:01) linked to increased NB risk.
- A risk score based on five HLA variants showed strong predictive value for patient survival, independent of traditional prognostic factors, indicating complex genetic interactions that warrant further investigation.
Article Synopsis
- Neuroblastoma (NB) is the most prevalent solid tumor in children, and while common risk variants have been studied, the impact of rare genetic variants on NB susceptibility hasn't been extensively researched until now.* -
- Researchers conducted whole-exome sequencing on a large sample of NB cases and controls, employing two models to uncover mutations and their effects in cancer predisposition genes (CPGs) and related biological pathways.* -
- The study found that a significant proportion of NB patients carried pathogenic/likely pathogenic variants in CPGs, specifically in genes linked to the homologous recombination pathway, and highlighted the importance of genetic counseling for these patients.*
High-Risk neuroblastoma (NB) survival rate is still <50%, despite treatments being more and more aggressive. The biggest hurdle liable to cancer therapy failure is the drug resistance by tumor cells that is likely due to the intra-tumor heterogeneity (ITH). To investigate the link between ITH and therapy resistance in NB, we performed a single cell RNA sequencing (scRNAseq) of etoposide and cisplatin resistant NB and their parental cells.
View Article and Find Full Text PDF