We hypothesized that reactivation of p53 by inhibition of its negative regulator will result in p53-mediated growth arrest and apoptosis. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2012
• February 2012

Aberrant promoter DNA methylation has been reported in childhood acute lymphoblastic leukaemia and has the potential to contribute to its onset and outcome ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2010
• June 2010

Aberrant expression of the TLX1/HOX11 proto-oncogene is associated with a significant subset of T-cell acute lymphoblastic leukemias... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2010
• March 2010

Chemotherapy is included in treatment regimens for many solid cancers, but when administered as a single agent it is rarely curative. The addition of immune checkpoint therapy to standard chemotherapy regimens has improved response rates and increased survival in some cancers. However, most patients do not respond to treatment and immune checkpoint therapy can cause severe side effects. Therefore, there is a need for alternative immunomodulatory drugs that enhance chemotherapy. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2024
• February 2024

BRAF genomic alterations are the most common oncogenic drivers in pediatric low-grade glioma. ...

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

B-cell acute lymphoblastic leukaemia (B-ALL) is characterised by diverse genomic alterations, the most frequent being gene fusions detected via transcriptomic analysis (mRNA-seq). Due to its hypervariable nature, gene fusions involving the Immunoglobulin Heavy Chain (IGH) locus can be difficult to detect with standard gene fusion calling algorithms and significant computational resources and analysis times are required. We aimed to optimize a gene fusion calling workflow to achieve best-case sensitivity for IGH gene fusion detection. ...

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

Pediatric patients with recurrent and refractory cancers are in most need for new treatments. This study developed patient-derived-xenograft (PDX) models within the European MAPPYACTS cancer precision medicine trial. ...

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

Optic pathway gliomas (OPGs) are associated with significant risk of visual and endocrine morbidity, but data on long-term outcomes in symptomatic patients is sparse. This study reviews the clinical course, disease progression, survival outcomes and long-term sequelae in pediatric patients with symptomatic OPGs in our institution over three decades. ...

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

ZFTA-RELA (formerly known as c11orf-RELA) fused supratentorial ependymoma has been recognized as a novel entity in the 2016 WHO classification of CNS tumors and further defined in the recent 2021 edition. ...

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

Invasive pulmonary aspergillosis remains a major cause of morbidity and mortality for immunocompromised children, particularly for patients with acute leukaemia and those undergoing haematopoietic stem cell transplantation. Timely diagnosis, using a combination of computed tomography (CT) imaging and microbiological testing, is key to improve prognosis, yet there are inherent challenges in this process. For CT imaging, changes in children are generally less specific than those reported in adults and recent data are limited. ...

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

Both fetal and tumor tissue microenvironments display immunosuppressive features characterized by the presence of specific immunomodulatory stromal and immune cell populations. Recently, we discovered shared microenvironments between hepatocellular carcinoma and fetal tissues and described this phenomenon as an oncofetal ecosystem. ...

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

T-cell lymphoblastic lymphoma (T-LBL) is a rare and aggressive lymphatic cancer, often diagnosed at a young age. Patients are treated with intensive chemotherapy, potentially followed by a hematopoietic stem cell transplantation. Although prognosis of T-LBL has improved with intensified treatment protocols, they are associated with side effects and 10-20% of patients still die from relapsed or refractory disease. Given this, the search toward less toxic anti-lymphoma therapies is ongoing. ...

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