Background: The DNA mismatch repair system (MMR) plays an important role in
the maintenance of genomic stability. To date few studies have been perfor
med on hMSH2 and hMLH1 expression and melanoma of the head and neck region.
A study of two cases revealed no mutations of the mismatch repair genes hM
SH2 and hMLH1. Materials and Methods: To verify the possibility of implicat
ion of hMSH2 and hMLH2 alterations in melanocytic cancerogenesis, the autho
rs examined the protein expression pattern of hMSH2 and hMLH1 by immunohist
ochemistry in 9 paraffin-embedded oral melanoma. Results: One case (11%) sh
owed nuclear positivity for hMSH2, 3 cases (33%) showed cytoplasmic positiv
ity, and five cases (55%) showed no staining in the tumoral cells, even if
normal squamous epithelium available in this section showed a nuclear posit
ivity. Four cases (44%) showed no hMLH1 staining in the tumoral cells, even
if normal squamous epithelium available in this section showed a nuclear p
ositivity. Two cases (22%) showed nuclear positivity, and three cases (33%)
showed cytoplasmic positivity. Conclusions: The analysis of mismatch repai
r genes can be a new molecular diagnostic tools for the detection of patien
ts at high risk of developing melanoma and other neoplasia, or metastasis a
nd recurrences.