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Open AccessCharacterisation of FLT3 alterations in childhood acute lymphoblastic leukaemia
Alterations of FLT3 are among the most common driver events in acute leukaemia with important clinical implications, since it allows patient classification into prognostic groups and the possibility of personalis...
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Article
Open AccessRepurposing disulfiram, an alcohol-abuse drug, in neuroblastoma causes KAT2A downregulation and in vivo activity with a water/oil emulsion
Neuroblastoma, the most common type of pediatric extracranial solid tumor, causes 10% of childhood cancer deaths. Despite intensive multimodal treatment, the outcomes of high-risk neuroblastoma remain poor. We...
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Article
Genetic susceptibility to acute graft versus host disease in pediatric patients undergoing HSCT
The most frequent complication of allogeneic hematopoietic stem cell transplantation is acute Graft versus Host Disease (aGVHD). Proliferation and differentiation of donor T cells initiate inflammatory respons...
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Article
Repurposing proscillaridin A in combination with decitabine against embryonal rhabdomyosarcoma RD cells
Embryonal rhabdomyosarcoma (eRMS) is the most common type of rhabdomyosarcoma in children. eRMS is characterized by malignant skeletal muscle cells driven by hyperactivation of several oncogenic pathways inclu...
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Article
Open AccessPublisher Correction: Single-cell analysis of childhood leukemia reveals a link between developmental states and ribosomal protein expression as a source of intra-individual heterogeneity
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
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Article
Open AccessAn optimized workflow to improve reliability of detection of KIAA1549:BRAF fusions from RNA sequencing data
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Article
Open AccessSingle-cell analysis of childhood leukemia reveals a link between developmental states and ribosomal protein expression as a source of intra-individual heterogeneity
Childhood acute lymphoblastic leukemia (cALL) is the most common pediatric cancer. It is characterized by bone marrow lymphoid precursors that acquire genetic alterations, resulting in disrupted maturation and...
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Article
Open AccessHeart failure drug proscillaridin A targets MYC overexpressing leukemia through global loss of lysine acetylation
Cardiac glycosides are approved for the treatment of heart failure as Na+/K+ pump inhibitors. Their repurposing in oncology is currently investigated in preclinical and clinical studies. However, the identificati...
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Article
Open AccessIdentification of genetic association between cardiorespiratory fitness and the trainability genes in childhood acute lymphoblastic leukemia survivors
The progress of treatments of childhood acute lymphoblastic leukemia (ALL) has made it possible to reach a survival rate superior to 80%. However, the treatments lead to several long-term adverse effects, incl...
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Article
Open AccessRecurrent somatic BRAF insertion (p.V504_R506dup): a tumor marker and a potential therapeutic target in pilocytic astrocytoma
Pilocytic astrocytoma (PA) is emerging as a tumor entity with dysregulated RAS/RAF/MEK/ERK signaling. In this study, we report the identification of a novel recurrent BRAF insertion (p.V504_R506dup) in five PA...
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Article
Open AccessTRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw
Giant cell lesions of the jaw (GCLJ) are debilitating tumors of unknown origin with limited available therapies. Here, we analyze 58 sporadic samples using next generation or targeted sequencing and report som...
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Article
Open AccessGenomic determinants of long-term cardiometabolic complications in childhood acute lymphoblastic leukemia survivors
While cure rates for childhood acute lymphoblastic leukemia (cALL) now exceed 80%, over 60% of survivors will face treatment-related long-term sequelae, including cardiometabolic complications such as obesity,...
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Article
Genomic and genealogical investigation of the French Canadian founder population structure
Characterizing the genetic structure of worldwide populations is important for understanding human history and is essential to the design and analysis of genetic epidemiological studies. In this study, we exam...