Aneuploidy and loss of heterozygosity as risk markers for malignant transformation in oral mucosa

Oral Dis. 2021 Nov;27(8):1993-2007. doi: 10.1111/odi.13797. Epub 2021 Feb 26.

Abstract

The ability to predict malignant transformation in oral potentially malignant disorders would inform targeted treatment, provide prognostic information and allow secondary prevention. DNA ploidy and loss of heterozygosity assays are already in clinical use, and loss of heterozygosity has been used in prospective clinical trials. This review appraises published evidence of predictive ability and explores interpretation of heterogeneous studies, with different diagnostic methods, criteria and intention. Both methods have a sound biological foundation and have predictive value independent of dysplasia grading and clinical parameters. The application of these two techniques cannot be directly compared because of differences in expression of results and application to populations of different risk. Predicting malignant transformation accurately on an individual patient basis is not yet possible with either technique. However, they are valuable applications to stratify patients for inclusion in trials, identify the lowest risk patients and exclude risk when biopsy results are indeterminate for dysplasia.

Keywords: DNA ploidy; leukoplakia; loss of heterozygosity; oral cancer; oral potentially malignant disorder; premalignancy.

Publication types

  • Review

MeSH terms

  • Aneuploidy
  • Cell Transformation, Neoplastic / genetics
  • Humans
  • Leukoplakia, Oral
  • Loss of Heterozygosity / genetics
  • Mouth Mucosa*
  • Precancerous Conditions*
  • Prospective Studies