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Related Concept Videos

The Retinoblastoma Gene01:20

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...

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Related Experiment Video

Updated: Jun 28, 2026

Co-culture of Glutamatergic Neurons and Pediatric High-Grade Glioma Cells Into Microfluidic Devices to Assess Electrical Interactions
07:39

Co-culture of Glutamatergic Neurons and Pediatric High-Grade Glioma Cells Into Microfluidic Devices to Assess Electrical Interactions

Published on: November 17, 2021

Pediatric High-Grade Gliomas and Cancer Predisposition Syndromes: A Retrospective Study.

Selene Cipri1, Giada Del Baldo1, Emanuele Agolini2

  • 1Pediatric Hematology/Oncology, Cell Therapy, Gene Therapies and Hemopoietic Transplant, Bambino Gesù Children's Hospital, IRCCS, Rome, Latium, 00165, Italy.

HGG Advances
|June 27, 2026
PubMed
Summary
This summary is machine-generated.

Pediatric high-grade glioma patients show a higher prevalence of cancer predisposition syndromes (CPSs) than previously thought. Genetic analysis revealed pathogenic variants in 18.9% of patients, highlighting the importance of germline variant screening.

Keywords:
cancer predisposition syndromefunctional studieshigh-grade gliomaneuro-oncologypediatric brain tumors

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Isolation and Flow Cytometric Analysis of Glioma-infiltrating Peripheral Blood Mononuclear Cells
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Isolation and Flow Cytometric Analysis of Glioma-infiltrating Peripheral Blood Mononuclear Cells

Published on: November 28, 2015

Area of Science:

  • Oncology
  • Genetics
  • Pediatrics

Background:

  • The link between pediatric high-grade gliomas (pHGG) and cancer predisposition syndromes (CPSs) is not well understood.
  • Massive parallel sequencing is increasingly used in diagnostics, yet germline variants in pHGG patients require further investigation.

Purpose of the Study:

  • To investigate the prevalence of germline variants associated with cancer risk in pediatric patients with high-grade gliomas.
  • To evaluate the presence of somatic variants and reclassify variants of uncertain significance (VUS).

Main Methods:

  • Retrospective analysis of sequencing data from 95 pediatric HGG patients.
  • Evaluation of somatic variants in 15 cases.
  • In silico and in vitro studies for variant reclassification.

Main Results:

  • Identified 80 variants, including 17 pathogenic (P) and 2 likely pathogenic (LP).
  • 23.7% of P/LP variants were in CPS-associated genes.
  • 18.9% of patients harbored P/LP variants; 11.6% had variants linked to CNS tumors, exceeding the reported 10% incidence.

Conclusions:

  • Pediatric HGG patients exhibit a higher prevalence of CPSs than previously reported.
  • Comprehensive germline variant analysis is crucial for identifying cancer predisposition in pediatric HGG.
  • Functional studies can aid in reclassifying VUS, improving diagnostic accuracy.