Publications by authors named "R Renella"
Article Synopsis
- A study investigated the relationship between solar UV radiation (UVR) exposure and childhood hematological malignancies in Switzerland, utilizing data from the Swiss National Cohort between 1990-2016.
- The research focused on children aged 0-15, identifying cancer cases and assessing UVR exposure using a climatological model to estimate UV levels at children's homes.
- Results showed a significant inverse association between higher UVR exposure, particularly in July, and the risk of acute lymphoblastic leukemia (ALL), suggesting that increased UV exposure might lower the risk of this type of cancer, though no connection was found for lymphoma.
EWS fusion oncoproteins underlie several human malignancies including Desmoplastic Small Round Cell Tumor (DSRCT), an aggressive cancer driven by EWS-WT1 fusion proteins. Here we combine chromatin occupancy and 3D profiles to identify EWS-WT1-dependent gene regulation networks and target genes. We show that EWS-WT1 is a powerful chromatin activator controlling an oncogenic gene expression program that characterizes primary tumors.
View Article and Find Full Text PDFThe development of targeted therapies offers new hope for patients affected by incurable cancer. However, multiple challenges persist, notably in controlling tumor cell plasticity in patients with refractory and metastatic illness. Neuroblastoma (NB) is an aggressive pediatric malignancy originating from defective differentiation of neural crest-derived progenitors with oncogenic activity due to genetic and epigenetic alterations and remains a clinical challenge for high-risk patients.
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- - Diamond-Blackfan anemia syndrome (DBA) is caused by mutations in over 20 ribosomal protein genes, and this study specifically investigates the role of RPL17, which encodes a large ribosomal subunit protein.
- - Patients with RPL17 mutations exhibited typical DBA symptoms and erythroid proliferation defects, with further experiments showing that these mutations are pathogenic and lead to anemia in model organisms.
- - The research found that RPL17 variants result in defects in ribosomal RNA maturation and suggest that DBA primarily stems from insufficient ribosome production rather than changes in ribosome structure, as indicated by altered translation profiles in cell lines.
Article Synopsis
- Myeloid neoplasms are a significant cause of pediatric leukaemias in infants, with 25%-50% of newborn leukemia cases showing skin-related symptoms before bone marrow involvement.
- This study examines 50 infants diagnosed with either cutaneous extramedullary disease (cEMD) or acute myeloid leukemia with cutaneous involvement (AML-cEMD), finding a common genetic mutation (KMT2A rearrangement) and notable survival rates.
- Results indicate a 66% event-free survival and a 75% overall survival rate, with some patients experiencing spontaneous remission; outcomes did not significantly differ between cEMD and AML-cEMD groups.