Quantitative assessment of DNA methylation for the detection of cervical and endometrial adenocarcinomas in liquid-based cytology specimens

Anal Quant Cytopathol Histpathol. 2012 Aug;34(4):195-203.

Abstract

Objective: To investigate the aberrant promoter hypermethylation as a screening tool for cervical adenocarcinomas (CAs) and endometrial adenocarcinomas (EAs) in cervical scrapings.

Study design: A quantitative multiplex methylation-specific polymerase chain reaction approach was used to examine promoter methylation of 5 genes (APC, HIN-1, RAR-beta, RASSF1A and Twist) in biopsy-confirmed CA (n = 31) and EA (n = 27) residual, liquid-based cytology samples. The data of negative for intraepithelial lesions or malignancy and low-grade squamous intraepithelial lesions were used as controls.

Results: Methylation levels of APC, RAR-beta, RASSF1A and Twist were significantly higher in CA than in control cervical samples. For EA, only the methylation levels of RASSF1A differed significantly from those of control. Receiver-operating characteristic analysis demonstrated that APC, RAR-beta and RASSF1A had the ability to distinguish CA/EA, CA and EA from control samples. In CA/EA and CA samples, the best 3-gene combination was RASSF1A/RAR-beta/APC. This 3-gene panel had a sensitivity of 87.0% for CA/EA and of 80.6% for CA and a specificity of 79.3% for both CA/EA and CA. In EA samples, RASSF1A showed the best performance in distinguishing EA from control. The estimated sensitivity of RASSF1A for detecting EA was 63.0%, and its specificity was 96.3%.

Conclusion: This feasibility study demonstrates that quantitative detection of aberrant DNA methylation in cervical scrapings may be a promising new diagnostic tool for the detection of CA and EA.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenocarcinoma / diagnosis
  • Adenocarcinoma / genetics*
  • Adult
  • Aged
  • Area Under Curve
  • Biomarkers, Tumor / genetics*
  • Cytodiagnosis / methods
  • Cytological Techniques
  • DNA Methylation / genetics*
  • Endometrial Neoplasms / diagnosis
  • Endometrial Neoplasms / genetics*
  • Female
  • Genes, APC
  • Humans
  • Immunohistochemistry
  • Middle Aged
  • Multiplex Polymerase Chain Reaction
  • Neoplasm Grading
  • Neoplasm Staging
  • ROC Curve
  • Receptors, Retinoic Acid / genetics
  • Sensitivity and Specificity
  • Tumor Suppressor Proteins / genetics
  • Uterine Cervical Neoplasms / diagnosis
  • Uterine Cervical Neoplasms / genetics*
  • Young Adult

Substances

  • Biomarkers, Tumor
  • RASSF1 protein, human
  • Receptors, Retinoic Acid
  • Tumor Suppressor Proteins
  • retinoic acid receptor beta