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Diverse mutations and structural variations contribute to Notch signaling deregulation in paediatric T-cell lymphoblastic lymphoma
(Wiley, 2022-11)
Background T-cell lymphoblastic lymphoma (T-LBL) is an aggressive neoplasm closely related to T-cell acute lymphoblastic leukaemia (T-ALL). Despite their similarities, and contrary to T-ALL, studies on paediatric T-LBL are ...
Methionine adenosyltransferase 1a antisense oligonucleotides activate the liver-brown adipose tissue axis preventing obesity and associated hepatosteatosis
(Nature, 2022)
Altered methionine metabolism is associated with weight gain in obesity. The methionine adenosyltransferase (MAT), catalyzing the first reaction of the methionine cycle, plays an important role regulating lipid metabolism. ...
Identification and Functional Analysis of a Novel CTNNB1 Mutation in Pediatric Medulloblastoma
(MDPI, 2022-01-14)
Medulloblastoma is the primary malignant tumor of the Central Nervous System (CNS) most common in pediatrics. We present here, the histological, molecular, and functional analysis of a cohort of 88 pediatric medulloblastoma ...
Molecular characterisation defines clinically-actionable heterogeneity within Group 4 medulloblastoma and improves disease risk-stratification
(Springer, 2023-05)
Group 4 tumours (MBGrp4) represent the majority of non-WNT/non-SHH medulloblastomas. Their clinical course is poorly predicted by current risk-factors. MBGrp4 molecular substructures have been identified (e.g. subgroups/ ...
Non-leukemic pediatric mixed phenotype acute leukemia/lymphoma: genomic characterization and clinical outcome in a prospective trial for pediatric lymphoblastic lymphoma
(Wiley, 2018-12-22)
Rare cases of hematological precursor neoplasms fulfill the diagnostic criteria of mixed phenotype acute leukemia (MPAL), characterized by expression patterns of at least two hematopoietic lineages, for which a highly ...
Variants in the 14q32 miRNA cluster are associated with osteosarcoma risk in the Spanish population
(Nature Publishing, 2018-10-18)
Association studies in osteosarcoma risk found significant results in intergenic regions, suggesting that regions which do not codify for proteins could play an important role. The deregulation of microRNAs (miRNAs) has ...
Prognostic and therapeutic value of somatic mutations in diffuse large B-cell lymphoma: A systematic review
(Elsevier, 2021-09)
Diffuse large B-cell lymphoma (DLBCL), the most common type of Non-Hodgkin lymphoma (NHL), is a highly heterogeneous and aggressive disease. Regardless of this heterogeneity, all patients receive the same first-line therapy, ...
Genetic Variants in MiRNA Processing Genes and Pre-MiRNAs Are Associated with the Risk of Chronic Lymphocytic Leukemia
(Public Library Science, 2015-03-20)
Genome wide association studies (GWAS) have identified several low-penetrance susceptibility alleles in chronic lymphocytic leukemia (CLL). Nevertheless, these studies scarcely study regions that are implicated in non-coding ...
MTHFR polymorphisms in childhood acute lymphoblastic leukemia: influence on methotrexate therapy
(Dove Medical Press, 2017-03-27)
Methotrexate (MTX) is an important component in the therapy used to treat childhood acute lymphoblastic leukemia ( ALL). Methylenetetrahydrofolate reductase ( MTHFR) is a key enzyme for MTX pharmacokinetics. Two single-nucleotide ...
Variants in vincristine pharmacodynamic genes involved in neurotoxicity at induction phase in the therapy of pediatric acute lymphoblastic leukemia
(Springer, 2019-02-06)
Vincristine is an important drug of acute lymphoblastic leukemia (ALL) treatment protocols that can cause neurotoxicity. Patients treated with LAL/SHOP protocols often suffer from vincristine-related neurotoxicity in early ...