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Background  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,  STK11  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.    Methods  Genomic DNAs extracted from 26 cases of penile squamous cell carcinoma were analyzed for genetic alterations in the exons 1 to 9 of  STK11  gene by quantitative real-time PCR. Ratios of potentially deleted and non-deleted exons were indicative of specific loss of  STK11  coding regions. DNA samples of 5 cancer cases were subjected to standard PCR amplification of  STK11  exons 1 to 9 and analyzed for somatic mutations by direct nucleotide sequencing analysis.    Results  Heterozygous deletions of  STK11  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.    Conclusions  The present results suggest that single nucleotide mutations and/or deletions of  STK11  gene are rare events in penile cancer. Moreover, no significant association was observed between  STK11  alterations and HPV infection in these tumors.

Somatic mutations of STK11 gene in human papillomavirus positive and negative penile cancer