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Updated: Sep 29, 2026
Genetic Profiling and Genome-Scale Dropout Screening to Identify Therapeutic Targets in Mouse Models of Malignant Peripheral Nerve Sheath Tumor
Published on: August 25, 2023
Molecular genetic changes in a series of neuroepithelial tumors of childhood
Alessia Di Sapio1, Isabella Morra, Luca Pradotto
1Divisione Universitaria di Neurologia, Ospedale San Luigi, Torino, Italy. alessia.disapio@tin.it
Abstract:
Amplification of the EGFR, mdm2, CDK4 and PDGFR A genes has been widely demonstrated in adult malignant gliomas, almost exclusively glioblastomas. To determine the role of these mutational events in pediatric astrocytic gliomas we investigated the presence of EGFR, mdm2, CDK4 and PDGFR A gene amplification in 38 childhood brain tumor biopsies, including 24 low-grade astrocytomas and 14 malignant tumors. We used differential PCR assay on DNA extracted either from paraffin embedded or frozen tissues. EGFR gene amplification was detected in 4 out of 14 malignant tumors; no low-grade astrocytoma showed amplification. Tumors with EGFR gene amplification were negative for the presence of p53 mutations, as observed in a previous study. One glioblastoma showed PDGFR A amplification, while no amplifications were observed for mdm2 and CDK4 genes. These data are in line with those obtained from studies on gliomas of adults and suggest the existence of two different subsets of malignant gliomas also in pediatric brain tumors: one carrying EGFR gene amplification, the other showing p53 mutations.
Insights
Gene amplification in pediatric gliomas was investigated. Epidermal growth factor receptor (EGFR) gene amplification occurred in malignant pediatric gliomas, suggesting distinct tumor subsets in childhood brain tumors.
Area of Science:
- Oncology
- Molecular Biology
- Pediatric Neuro-oncology
Background:
- Gene amplification of EGFR, mdm2, CDK4, and PDGFR A is common in adult malignant gliomas.
- The role of these genetic alterations in pediatric astrocytic gliomas remains less understood.
Purpose of the Study:
- To investigate the presence and significance of EGFR, mdm2, CDK4, and PDGFR A gene amplification in pediatric astrocytic gliomas.
- To compare genetic alterations in pediatric gliomas with those found in adult gliomas.
Main Methods:
- Analysis of 38 pediatric brain tumor biopsies (24 low-grade, 14 malignant) using differential PCR.
- DNA was extracted from paraffin-embedded or frozen tissues.
Main Results:
- EGFR gene amplification was found in 4 of 14 malignant pediatric gliomas, but not in low-grade astrocytomas.
- Tumors with EGFR amplification lacked p53 mutations.
- PDGFR A amplification was observed in one glioblastoma; mdm2 and CDK4 amplifications were absent.
Conclusions:
- Pediatric malignant gliomas may represent distinct subsets, similar to adult gliomas, characterized by either EGFR gene amplification or p53 mutations.
- EGFR amplification is a specific event in malignant pediatric astrocytic gliomas.
