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The type II RAF inhibitor tovorafenib in relapsed/refractory pediatric low-grade glioma: the phase 2 FIREFLY-1 trialBRAF genomic alterations are the most common oncogenic drivers in pediatric low-grade glioma.
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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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MedulloblastomaMedulloblastoma is a highly malignant small round blue cell tumor of the posterior fossa
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Unusual paediatric spinal myxopapillary ependymomas: Unique molecular entities or pathological variations on a theme?We describe two unusual cases of MPE and use DNA methylation analyses to compare their signatures to try and distinguish if these represent a unique subset.
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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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International experience in the development of patient-derived xenograft models of diffuse intrinsic pontine gliomaThis multi-center study provides valuable information on the success rate of establishing patient-derived pre-clinical models of diffuse intrinsic pontine glioma
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Most clinical anti-EGFR antibodies do not neutralize both wtEGFR and EGFRvIII activation in gliomaWe discovered a previously unknown major resistance mechanism in glioma in that most EGFR domain III-targeting antibodies do not neutralize EGFRvIII
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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.
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Landmark research hopes to increase survival rates for aggressive childhood cancerA new combination of drugs could help to increase survival rates with fewer side effects for some children with one of the most aggressive forms of childhood brain cancer.
Research
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.