Mutational analysis of ribosomal proteins in a cohort of pediatric patients with T-cell acute lymphoblastic leukemia reveals Q123R, a novel mutation in RPL10

T-cell Acute Lymphoblastic Leukemia (T-ALL) is a very common pediatric tumor. In the last years, the list of T-ALL driver genes has been expanded revealing the involvement of somatic mutations in genes encoding ribosomal proteins (RPs). The improper functioning of ribosomes has an important impact on cancer and mutations in RPs were found in different tumors. In T-ALL, mutations occurring in RPs most frequently involve RPL10 gene, and they occur almost exclusively in residue arginine 98 (R98S). R98S contribution to pediatric T-ALL has been extensively studied, showing its impact on ribosome structure and function. To acquire a broader picture of how altered ribosomes contribute to T-ALL, we studied the occurrence of RP mutations in a cohort of pediatric T-ALL patients and correlated it to the presence of other mutations occurring in factors involved in ribosome biogenesis or protein synthesis control. This analysis further expands the list of RP mutations potentially contributing to oncogenesis, and opens the way to new studies aimed at defining its impact on ribosome function in malignant cells.