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Related Experiment Videos

Mononucleotide repeat instability is infrequent in neuroblastoma

M D Hogarty1, P S White, E P Sulman

  • 1Division of Oncology, Children's Hospital of Philadelphia, PA 19104-4318, USA.

Cancer Genetics and Cytogenetics
|November 3, 1998
PubMed
Summary

Microsatellite instability (MSI) is rare in neuroblastoma, a pediatric cancer. DNA mismatch repair gene defects are unlikely to cause the genomic instability observed in this disease.

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Area of Science:

  • Oncology
  • Genetics
  • Molecular Biology

Background:

  • Neuroblastoma, a pediatric cancer, exhibits genetic instability.
  • Mismatch repair (MMR) gene mutations cause genomic instability in other cancers via microsatellite instability (MSI).
  • Previous studies found infrequent MSI in neuroblastoma, particularly at di- or tetranucleotide repeats.

Purpose of the Study:

  • To investigate the frequency of MSI at mononucleotide repeats in neuroblastoma.
  • To determine if MMR gene defects contribute to genomic instability in neuroblastoma.

Main Methods:

  • Analysis of 46 matched normal and neuroblastoma tumor DNA samples.
  • Use of five polymorphic mononucleotide repeat markers to detect MSI.
  • Assessment of MSI across all clinical stages of neuroblastoma.

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Main Results:

  • Only one tumor (2%) showed mononucleotide repeat instability at a single locus.
  • MSI at mononucleotide repeats was infrequent in the studied neuroblastoma cohort.

Conclusions:

  • Microsatellite instability is uncommon in human neuroblastoma.
  • Defects in DNA mismatch repair are not a primary cause of genomic instability in neuroblastoma.