Genetic predisposition to proteome instability may be a determinant in the pathogenesis of paediatric brain cancers ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2020
• April 2020

Advancements in genomic profiling led to the discovery of four major molecular subgroups in medulloblastoma (MB), which have now been incorporated into the World Health Organization classification of central nervous system tumors. The current study aimed to determine the prognostic significance of the MB molecular subgroups among children in Malaysia.  ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• November 2023

Predicting treatment response or survival of cancer patients remains challenging in immuno-oncology. Efforts to overcome these challenges focus, among others, on the discovery of new biomarkers. Despite advances in cellular and molecular approaches, only a limited number of candidate biomarkers eventually enter clinical practice. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2021
• May 2021

We identified previously unidentified gene fusions involving the MET oncogene in pediatric glioblastoma ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2016
• October 2016

KMT2A-rearranged acute lymphoblastic leukemia (ALL) in infants is an aggressive disease with 3-year event-free survival below 40%. Most relapses occur during treatment, with two thirds occurring within 1 year and 90% within 2 years after diagnosis. Outcomes have not improved in recent decades despite intensification of chemotherapy. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• April 2023

Children with Down syndrome (DS) are at a significantly higher risk of developing acute myeloid leukemia, also termed myeloid leukemia associated with DS (ML-DS). In contrast to the highly favorable prognosis of primary ML-DS, the limited data that are available for children who relapse or who have refractory ML-DS (r/r ML-DS) suggest a dismal prognosis. There are few clinical trials and no standardized treatment approach for this population. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• February 2023

Acute lymphoblastic leukemia (ALL) in infants younger than 1 year of age is an aggressive, high-risk subtype of childhood ALL. Infant ALL with KMT2A-r is characteristically poorly responsive to chemotherapy and hematopoietic stem cell transplantation. New strategies, such as molecularly targeted therapies and immunotherapies, are in development and show promise in preclinical models and early phase studies. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2022
• January 2022

We report on 3 children treated with vismodegib who developed widespread growth plate fusions that persist long after cessation of therapy. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2017
• September 2017

Raelene Nick Endersby Gottardo R NG BSc (Hons) PhD MBChB FRACP PhD Brainchild Fellow; Co-Head, Brain Tumour Research Co-Head, Brain Tumour Research raelene.endersby@telethonkids.org.au nicholas.gottardo@telethonkids.org.au Co-Head, Brain Tumour ...

• 1. Telethon Kids Institute
• Projects

KMT2A-rearranged infant acute lymphoblastic leukemia (ALL) represents the most refractory type of childhood leukemia. To uncover the molecular heterogeneity of this disease, we perform RNA sequencing, methylation array analysis, whole exome and targeted deep sequencing on 84 infants with KMT2A-rearranged leukemia. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2022
• August 2022

Embryonal tumours with multi-layered rosettes (ETMRs) are a newly recognised, rare paediatric brain tumour with alterations of the C19MC microRNA locus. Due to varied diagnostic practices and scarce clinical data, disease features and determinants of outcomes for these tumours are poorly defined. We did an integrated clinicopathological and molecular analysis of primary ETMRs to define clinical phenotypes, and to identify prognostic factors of survival and key treatment modalities for this orphan disease. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2021
• November 2021

Here we present an approach for the DNA methylation-based classification of central nervous system tumors across all groups and demonstrate its application. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2018
• March 2018