Objective To explore the role of methylation of Human MutS homolog 2 (MSH2) and Human runt-related transcription factor 3 genes (RUNX3) in DNA prepared from nasopharyngeal swabs in early diagnosis and prognosis prediction of nasopharyngeal carcinoma. Methods The methylation-specific PCR was used to detect hypermethylation of MSH2 and RUNX3 genes in DNA prepared from nasopharyngeal swabs from 54 nasopharyngeal carcinoma patients, 18 chronic nasopharyngitis patients and 20 healthy volunteers. The

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... specificity and sensitivity in early diagnosis of nasopharyngeal carcinoma by detecting MSH2 and/or RUNX3 gene methylation were evaluated. The relationship between methylation of MSH2 or RUNX3 gene and the biological behavior of nasopharyngeal carcinoma was analyzed. Results Hypermethylation of MSH2 and RUNX3 gene was respectively detected in 38 out of 54 (70.37%) and in 28 out of 54 (51.85%) nasopharyngeal swabs obtained from nasopharyngeal carcinoma patients, while there was no methylation in nasopharyngeal swabs from 18 chronic nasopharyngitis patients and 20 healthy volunteers. The differences were statistically significant (P<0.001). The specificity and sensitivity in early diagnosis of nasopharyngeal carcinoma were respectively 100% and 70.37% by detecting MSH2 gene methylation, 100% and 51.85% respectively by detecting RUNX3 gene methylation in nasopharyngeal swabs from nasopharyngeal carcinoma patients determined by methylation-specific PCR, while parallel combined detection of MSH2 and RUNX3 gene methylation increased the diagnostic specificity and sensitivity up to 100% and 90.74%, respectively. No close correlation was found between methylation of MSH2 or RUNX3 gene and the biological behavior of nasopharyngeal carcinoma in patients (P>0.05). Conclusions Parallel combined testing of MSH2 and RUNX3 gene methylation in DNA prepared from nasopharyngeal swabs determined by methylation-specific PCR could increase the specificity and sensitivity in early diagnosis of nasopharyngeal carcinoma, and is of important clini [...]