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Research

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.

Research

Whole genome, transcriptome and methylome profiling enhances actionable target discovery in high-risk pediatric cancer

The 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.

Research

IDH-mutant gliomas in children and adolescents - from biology to clinical trials

Gliomas 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 equity

Delivering 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.

Research

A surveillance clinic for children and adolescents with, or at risk of, hereditary cancer predisposition syndromes

Hereditary 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 germinoma

Central 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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Activation of ERBB4 in Glioblastoma Can Contribute to Increased Tumorigenicity and Influence Therapeutic Response

The functional effects of increased ERBB4 activation identify ERBB4 as a potential prognostic and therapeutic target

Research

Most clinical anti-EGFR antibodies do not neutralize both wtEGFR and EGFRvIII activation in glioma

We 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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International experience in the development of patient-derived xenograft models of diffuse intrinsic pontine glioma

This 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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Exercise training improves vascular function and secondary health measures in survivors of pediatric oncology related cerebral insult

This study demonstrates that exercise is achievable and has positive effects on vascular function, submaximal fitness, local strength and physical activity in a population of AYA survivors of pediatric oncology related cerebral insult