Mutational analysis of the PTEN/MMAC1 gene in primary oesophageal squamous cell carcinomas

Mol Pathol. 1999 Dec;52(6):353-6. doi: 10.1136/mp.52.6.353.

Abstract

Aim: To investigate whether PTEN/MMAC1 mutations play a role in the carcinogenesis of oesophageal squamous cell carcinoma.

Methods: A panel of 33 primary oesophageal squamous cell carcinoma tumour samples and 20 corresponding morphologically normal tissues was examined for mutations in all nine exons of the PTEN/MMAC1 gene by means of polymerase chain reaction single strand conformational polymorphism analysis (PCR-SSCP) and direct DNA sequencing methods.

Results: Only one of 33 oesophageal squamous cell carcinomas showed an aberrant SSCP band. Further sequencing analysis of this sample revealed an 802 -29 T-->C substitution in intron 7. PTEN/MMAC1 mutations were not found in the mutational "hot spot" in exon 5, even after direct sequencing of six oesophageal squamous cell carcinoma samples and three normal tissues. However, a deletion of one nucleotide T at position 492 +8 in intron 5 was seen in all samples.

Conclusion: These results suggest that PTEN/MMAC1 mutations do not play a major role in the carcinogenesis of oesophageal squamous cell carcinoma.

MeSH terms

  • Aged
  • Aged, 80 and over
  • Carcinoma, Squamous Cell / genetics*
  • DNA Mutational Analysis
  • DNA, Neoplasm / genetics
  • Esophageal Neoplasms / genetics*
  • Female
  • Humans
  • Male
  • Middle Aged
  • Mutation*
  • PTEN Phosphohydrolase
  • Phosphoric Monoester Hydrolases / genetics*
  • Polymerase Chain Reaction
  • Polymorphism, Single-Stranded Conformational
  • Prospective Studies
  • Tumor Suppressor Proteins*

Substances

  • DNA, Neoplasm
  • Tumor Suppressor Proteins
  • Phosphoric Monoester Hydrolases
  • PTEN Phosphohydrolase
  • PTEN protein, human