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Related Experiment Video

Updated: Aug 12, 2025

Modeling Astrocytoma Pathogenesis In Vitro and In Vivo Using Cortical Astrocytes or Neural Stem Cells from Conditional, Genetically Engineered Mice
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Polymorphisms in TPT1 Pathways in Pediatric Astrocytomas.

Eduardo Morais de Castro1, Leonardo Vinícius Barbosa1, Aline Simoneti Fonseca1

  • 1245067Faculdades Pequeno Príncipe, 245143Instituto de Pesquisa Pelé Pequeno Príncipe, Curitiba, Paraná, Brazil.

ASN Neuro
|January 30, 2023
PubMed
Summary
This summary is machine-generated.

Genetic variations in the MDM2 and CDKN1A genes are linked to pediatric astrocytomas. MDM2 protein expression may serve as a prognostic marker for glioblastoma survival in children.

Keywords:
MDM2TCTPTPT1astrocytomasbiomarkerspolymorphisms

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Area of Science:

  • Oncology
  • Genetics
  • Molecular Biology

Background:

  • Pediatric astrocytomas are leading causes of cancer death in children.
  • While histopathology is key, molecular diagnostics are increasingly vital.
  • The role of Translationally Controlled Tumor Protein (TCTP) in pediatric astrocytomas remains unclear.

Purpose of the Study:

  • To investigate polymorphisms in TPT1 and related genes (MTOR, MDM2, TP53, CDKN1A) in pediatric astrocytomas.
  • To correlate these genetic findings with TCTP protein expression and clinical outcomes.
  • To explore the potential of these markers in astrocytoma tumorigenesis and prognosis.

Main Methods:

  • Genotyping and immunohistochemistry on formalin-fixed, paraffin-embedded (FFPE) pediatric astrocytoma samples.
  • Analysis of specific gene polymorphisms, including MDM2 (rs117039649) and CDKN1A (rs3176334).
  • Correlation of genetic data with protein expression and patient survival rates.

Main Results:

  • The MDM2 rs117039649 (C allele) polymorphism was exclusively found in pediatric glioblastomas (p=0.028).
  • The CDKN1A rs3176334 (homozygous polymorphic genotype) was specific to high-grade astrocytomas (p=0.039).
  • Cytoplasmic MDM2 expression correlated with improved survival in glioblastoma patients (p=0.018).

Conclusions:

  • MDM2 and CDKN1A gene polymorphisms may be associated with pediatric astrocytoma risk.
  • MDM2 expression shows potential as a prognostic indicator in pediatric glioblastoma.
  • Further research into the TCTP pathway could identify novel therapeutic targets and biomarkers.