Faculty Bibliography

BACKGROUND: Human papillomavirus (HPV) type 2 is generally considered to be a benign viral infection associated with common warts. Other HPV types have been associated with the development of squamous cell carcinomas (SCCs). OBJECTIVE: To describe a case of HPV type 2 identified in a SCC of the finger in an immunocompetent patient. To our knowledge, this is the first such case reported in the literature. METHODS: This is a case report and review of the literature. RESULTS: Mohs micrographic surgery performed in two stages effectively removed the tumor. CONCLUSION: HPV type 2 may play a role in the development of cutaneous SCC. Further epidemiologic and molecular studies of HPV and SCCs will be helpful in determining the role of HPV type 2 in cutaneous oncogenesis.

UVB irradiation is known to produce DNA damage at mutation hotspots in the p53 tumor suppressor gene, leading to the development of skin cancers. Mutations in the PTCH tumor suppressor gene, which is known to be responsible for the development of nevoid basal cell carcinoma syndrome, have also been identified in sporadic basal cell carcinomas (BCCs). We describe the case of an 80-year-old welder in whom 3 novel p53 mutations, as well as UV-specific PTCH mutations, were detected in two BCC samples from sun-exposed skin. The simultaneous presence of UV-specific p53 and PTCH mutations in the same BCC sample has not previously been reported.

BACKGROUND:The nipple is an extremely unusual location for basal cell carcinoma (BCC). OBJECTIVE:To report a case of BCC originating on the areola and nipple region in a 47-year-old Dominican woman treated with Mohs micrographic surgery (MMS). METHODS:We discuss a case of BCC originating on the areola and nipple region treated with MMS and review the literature regarding treatment of BCC of the nipple. RESULTS:BCCs of the nipple occur rarely, with a total of 19 cases reported in the literature, 6 of which occurred in females. While many of the reported cases were treated with simple excision, several of these required postoperative radiation therapy and/or mastectomy due to their large size and aggressive nature. CONCLUSION/CONCLUSIONS:MMS should be considered for treating BCCs at this site as a tissue-sparing measure to minimize deformity of this important anatomic area and to minimize the risk of recurrence.

Merkel cell carcinoma has been found to have an increased incidence among immunosuppressed patients, specifically organ transplant recipients receiving immunosuppressive therapy. HIV similarly depresses the immune response of infected persons. We report a case of Merkel cell carcinoma (MCC) in an HIV-infected patient who died from liver metastases 2 years after his tumor was diagnosed. The purpose of this report is to describe the possible relationship between HIV and MCC and to emphasize the importance of early diagnosis and aggressive management of MCC.

Ultraviolet light exposure is the major risk factor for the development of squamous cell carcinoma in Caucasians. Mutations in the tumor suppressor gene p53 have been identified in both squamous cell carcinomas and basal cell carcinomas. The human homolog of the Drosophila patched gene, has been shown to be mutated in sporadic basal cell carcinomas; however, mutations in the patched gene have not been found in squamous cell carcinoma. In this study, we screened a total of 20 squamous cell carcinoma samples for mutations in the patched gene. Using polymerase chain reaction-single strand conformation polymorphism as an initial screening method, we identified one non-sense mutation, two mis-sense mutations and three silent mutations in five squamous cell carcinoma samples. In one squamous cell carcinoma sample, we identified a tandem GG-->AA transitional change at nucleotide 3152 in exon 18 of the patched gene that resulted in a premature stop codon at codon 1051. The three squamous cell carcinoma samples containing non-sense and mis-sense mutations were isolated from individuals with histories of multiple basal cell carcinoma. Sequence analysis of the p53 gene in these five squamous cell carcinoma samples identified one CC-->TT and three C-->T ultraviolet-specific nucleotide changes. Our study provides evidence that the patched gene is mutated in squamous cell carcinoma from individuals with a history of multiple basal cell carcinoma. The identification of ultraviolet-specific nucleotide changes in both tumor suppressor genes supports the notion that ultraviolet exposure plays an important part in the development of squamous cell carcinoma.