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

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

Medulloblastoma (MB) consists of four core molecular subgroups with distinct clinical features and prognoses. Treatment consists of surgery, followed by radiotherapy and cytotoxic chemotherapy. Despite this intensive approach, outcome remains dismal for patients with certain subtypes of MB, namely, MYC-amplified Group 3 and TP53-mutated SHH. Using high-throughput assays, six human MB cell lines were screened against a library of 3208 unique compounds. We identified 45 effective compounds from the screen and found that cell cycle checkpoint kinase (CHK1/2) inhibition synergistically enhanced the cytotoxic activity of clinically used chemotherapeutics cyclophosphamide, cisplatin, and gemcitabine. ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2021
• January 2021

Patient-derived orthotopic xenograft (PDOX) mouse models are considered the gold standard for evidence-based preclinical research in pediatric neuro-oncology. This protocol describes the generation of PDOX models by intracranial implantation of human pediatric brain cancer cells into immune-deficient mice, and their continued propagation to establish cohorts of animals for preclinical research. ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2024
• April 2024

We report vaccine efficacy against CIN3+ and adenocarcinoma in situ (AIS) in the end-of-study analysis of PApilloma TRIal against Cancer In young Adults. ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2012
• January 2012

Medulloblastoma (MB) is the most common malignant brain tumor in children and a leading cause of cancer-related mortality and morbidity. ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2011
• September 2011

DYRK1A is a serine/threonine kinase encoded on human chromosome 21 (HSA21) that has been implicated in several pathologies of Down syndrome (DS), including cognitive deficits and Alzheimer's disease. Although children with DS are predisposed to developing leukemia, especially B cell acute lymphoblastic leukemia (B-ALL), the HSA21 genes that contribute to malignancies remain largely undefined. Here, we report that DYRK1A is overexpressed and required for B-ALL. Genetic and pharmacologic inhibition of DYRK1A decreased leukemic cell expansion and suppressed B-ALL development in vitro and in vivo. ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2021
• January 2021

This JAK3A572V knockin model is a relevant new tool for testing the efficacy of JAK inhibitors in JAK3-related hematopoietic malignancies ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2018
• July 2018

Immune checkpoint therapy (ICT) results in durable responses in individuals with some cancers, but not all patients respond to treatment. ICT improves CD8+ cytotoxic T lymphocyte (CTL) function, but changes in tumor antigen-specific CTLs post-ICT that correlate with successful responses have not been well characterized. Here, we studied murine tumor models with dichotomous responses to ICT. ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2020
• November 2020

Here we describe 19 new cases with RASopathy due to disease-causing variants in NRAS ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2017
• June 2017

One of Australia’s leading cancer research centres continues to be powered by parents who decided to fight back. Hard. ...

• Giving at Telethon Kids
• Your impact
• Giving stories
• Stories from our Community
• 2017