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Cell Population Analyses During Skin Carcinogenesis
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Mutations of microsatellite instability target genes in sporadic basal cell carcinomas

Angelica A Saetta1, Angeliki Stamatelli, Maria Karlou

  • 1Department of Pathology, Medical School, The National and Kapodistrian University of Athens, 75 Mikras Asias Street, Goudi, GR-115 27 Athens, Greece. asaetta@med.uoa.gr

Pathology, Research and Practice
|October 24, 2007
PubMed

Insights

Microsatellite instability (MSI) is linked to DNA repair defects and cancer. In basal cell carcinomas (BCCs), mutations in TGF-betaRII or hMSH3 were found, though MSI was infrequent.

Area of Science:

  • Genetics
  • Oncology
  • Molecular Biology

Background:

  • Genomic instability, including microsatellite instability (MSI) due to DNA mismatch repair (MMR) defects, plays a role in tumorigenesis.
  • Specific genes with coding mononucleotide repeats (e.g., TGF-betaRII, IGFIIR, hMSH3, hMSH6) are known mutation targets in MSI-high tumors.

Purpose of the Study:

  • To investigate the prevalence of mutations in four key MSI target genes (TGF-betaRII, IGFIIR, hMSH3, hMSH6).
  • To correlate these mutations with the MSI status in 75 basal cell carcinoma (BCC) cases, including aggressive subtypes.

Main Methods:

  • Analysis of mutations in TGF-betaRII, IGFIIR, hMSH3, and hMSH6 genes.
  • Assessment of microsatellite instability (MSI) status in 75 basal cell carcinoma (BCC) samples.

Main Results:

  • Frameshift mutations in TGF-betaRII or hMSH3 were identified in 5% of BCCs, including aggressive cases.
  • No microsatellite alterations were found in the IGFIIR and hMSH6 genes.
  • Mutations in hMSH3 and TGF-betaRII mononucleotide repeats occurred in some BCCs, independent of overall MSI status.

Conclusions:

  • Microsatellite alterations may contribute to the development of certain basal cell carcinomas (BCCs), despite a low overall frequency of microsatellite instability (MSI) in the cohort.
  • The findings suggest a complex role for DNA repair gene mutations in BCC pathogenesis.

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