| Summary: | <p>Abstract</p> <p>Background</p> <p>Human papillomavirus (HPV) infection accounts for about 40-50% of all cases of penile carcinoma suggesting that other factors, including host genetic status, are involved in neoplastic transformation. In this perspective, <it>STK11</it> gene, which has been found frequently mutated in HPV-related cervical carcinoma, has been analyzed in HPV-positive and HPV-negative invasive penile cancers to establish its mutational status and the possible correlation of HPV infection with specific genetic alterations.</p> <p>Methods</p> <p>Genomic DNAs extracted from 26 cases of penile squamous cell carcinoma were analyzed for genetic alterations in the exons 1 to 9 of <it>STK11</it> gene by quantitative real-time PCR. Ratios of potentially deleted and non-deleted exons were indicative of specific loss of <it>STK11</it> coding regions. DNA samples of 5 cancer cases were subjected to standard PCR amplification of <it>STK11</it> exons 1 to 9 and analyzed for somatic mutations by direct nucleotide sequencing analysis.</p> <p>Results</p> <p>Heterozygous deletions of <it>STK11</it> exon 1 and 2 were identified in 2 out of 14 HPV-positive (14.3%) and 1 out of 12 HPV-negative cases (8.3%). Complete nucleotide sequencing analysis of exons 1 to 9 showed a single nucleotide change upstream the exon 2 coding region in 1 out of 5 penile carcinoma samples.</p> <p>Conclusions</p> <p>The present results suggest that single nucleotide mutations and/or deletions of <it>STK11</it> gene are rare events in penile cancer. Moreover, no significant association was observed between <it>STK11</it> alterations and HPV infection in these tumors.</p>
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