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Germline Elongator mutations in Sonic Hedgehog medulloblastomaGenetic predisposition to proteome instability may be a determinant in the pathogenesis of paediatric brain cancers
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MEIS proteins as partners of the TLX1/HOX11 oncoproteinAberrant expression of the TLX1/HOX11 proto-oncogene is associated with a significant subset of T-cell acute lymphoblastic leukemias...
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Developing and characterising juvenile models of aggressive paediatric brain cancers for the evaluation of novel immunotherapies.While profound treatment responses have been realised using immunotherapy for some cancer types, this is yet to be seen for paediatric brain cancer patients.
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Tissue resident memory T cells: putting cancer cells to sleep and a target for therapyTissue resident memory T cells are cancer killing immune cells that have emerged as key players in immune-mediated control of solid cancers, as well as being markers of prognosis and predictors of response to immunotherapy.
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A surveillance clinic for children and adolescents with, or at risk of, hereditary cancer predisposition syndromesHereditary cancer predisposition syndromes (HCPS) account for at least 10% of paediatric cancers.1 Li‐Fraumeni syndrome (LFS) is a dominant HCPS caused by mutations in the TP53 gene and is associated with an 80–90% lifetime risk of cancer, commencing in infancy.2 Children of affected individuals are at 50% risk of inheriting the family mutation.
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Multi-institutional analysis of treatment modalities in basal ganglia and thalamic germinomaCentral nervous system germinomas are treatment-sensitive tumors with excellent survival outcomes. Current treatment strategies combine chemotherapy with radiotherapy (RT) in order to reduce the field and dose of RT. Germinomas originating in the basal ganglia/thalamus have proven challenging to treat given their rarity and poorly defined imaging characteristics. Craniospinal, whole brain, whole ventricle, and focal RT have all been utilized; however, the best treatment strategy remains unclear.
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IDH-mutant gliomas in children and adolescents - from biology to clinical trialsGliomas account for nearly 30% of all primary central nervous system (CNS) tumors in children and adolescents and young adults (AYA), contributing to significant morbidity and mortality. The updated molecular classification of gliomas defines molecularly diverse subtypes with a spectrum of tumors associated with age-distinct incidence.
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Towards precision cancer medicine for Aboriginal and Torres Strait Islander cancer health equityDelivering cancer control at scale for Aboriginal and Torres Strait Islander communities is a national priority that requires Aboriginal and Torres Strait Islander leadership and codesign, as well as significant involvement of the Aboriginal community-controlled health sector. The unique genomic variation observed among Aboriginal and Torres Strait Islander peoples may have implications for standard and precision medicine.
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Chemotherapy-induced peripheral neuropathy in children and adolescent cancer patientsBrain cancer and leukemia are the most common cancers diagnosed in the pediatric population and are often treated with lifesaving chemotherapy. However, chemotherapy causes severe adverse effects and chemotherapy-induced peripheral neuropathy (CIPN) is a major dose-limiting and debilitating side effect.
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Whole genome, transcriptome and methylome profiling enhances actionable target discovery in high-risk pediatric cancerThe Zero Childhood Cancer Program is a precision medicine program to benefit children with poor-outcome, rare, relapsed or refractory cancer. Using tumor and germline whole genome sequencing (WGS) and RNA sequencing (RNAseq) across 252 tumors from high-risk pediatric patients with cancer, we identified 968 reportable molecular aberrations.