PTEN methylation is associated with advanced stage and microsatellite instability in endometrial carcinoma

Int J Cancer. 2001 Jan 1;91(1):22-6. doi: 10.1002/1097-0215(20010101)91:1<22::aid-ijc1002>;2-s.


Loss of heterozygosity and mutations in the PTEN (MMAC1) tumor suppressor gene are frequent in endometrial carcinoma. Promoter hypermethylation has recently been identified as an alternative mechanism of tumor suppressor gene inactivation in cancer, but its importance in the PTEN gene in endometrial carcinoma is unknown. The purpose of our study was to assess the frequency of promoter methylation of the PTEN gene and to determine its correlation with clinicopathologic variables in a prospective and population-based series of endometrial carcinomas with complete follow-up. Presence of PTEN promoter methylation was seen in 26 of 138 patients (19%). Methylation was significantly associated with metastatic disease (p = 0.01) and a microsatellite unstable phenotype (p = 0.006). In conclusion, we find that PTEN promoter methylation is relatively frequent in endometrial carcinoma. Its association with metastatic disease and microsatellite instability implicates its importance in the development of this tumor type.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Alleles
  • Carcinoma / genetics*
  • Carcinoma / metabolism
  • DNA Methylation*
  • Endometrial Neoplasms / genetics*
  • Endometrial Neoplasms / metabolism
  • Exons
  • Female
  • Follow-Up Studies
  • Humans
  • Immunohistochemistry
  • Microsatellite Repeats / genetics*
  • PTEN Phosphohydrolase
  • Phenotype
  • Phosphoric Monoester Hydrolases / biosynthesis
  • Phosphoric Monoester Hydrolases / genetics*
  • Ploidies
  • Polymerase Chain Reaction
  • Prognosis
  • Promoter Regions, Genetic
  • Receptors, Steroid / metabolism
  • Tumor Suppressor Proteins*


  • Receptors, Steroid
  • Tumor Suppressor Proteins
  • Phosphoric Monoester Hydrolases
  • PTEN Phosphohydrolase
  • PTEN protein, human