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      • Record: found
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      Perianal basal cell carcinoma: a common cancer in an uncommon location

      case-report

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          Abstract

          This is a case of a perianal basal cell carcinoma, a common skin cancer in an unusual location. Our patient is a 67-year-old male with a perianal lesion. He first noticed this painless lesion 5 years prior to presentation and was having fecal incontinence and weight loss. He had a fully encompassing ulcerated lesion involving the entirety of the anal margin. We performed a biopsy that returned on pathology as a basal cell carcinoma. Due to the size of the lesion and his current nutritional status, it was determined to be unresectable. We were able to provide him with a diverting colostomy to address his incontinence and this allowed the patient to recover enough to undergo treatment with radiation (total of 5400 cGy). To our knowledge, this is the largest perianal basal cell carcinoma reported in the literature and an example of combining palliative surgery and radiation as a treatment option.

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          Understanding the Molecular Genetics of Basal Cell Carcinoma

          Cristina Pellegrini, Maria Maturo, Lucia Di Nardo … (2017)
          Basal cell carcinoma (BCC) is the most common human cancer and represents a growing public health care problem. Several tumor suppressor genes and proto-oncogenes have been implicated in BCC pathogenesis, including the key components of the Hedgehog pathway, PTCH1 and SMO, the TP53 tumor suppressor, and members of the RAS proto-oncogene family. Aberrant activation of the Hedgehog pathway represents the molecular driver in basal cell carcinoma pathogenesis, with the majority of BCCs carrying somatic point mutations, mainly ultraviolet (UV)-induced, and/or copy-loss of heterozygosis in the PTCH1 gene. Recent advances in sequencing technology allowed genome-scale approaches to mutation discovery, identifying new genes and pathways potentially involved in BCC carcinogenesis. Mutational and functional analysis suggested PTPN14 and LATS1, both effectors of the Hippo–YAP pathway, and MYCN as new BCC-associated genes. In addition, emerging reports identified frequent non-coding mutations within the regulatory promoter sequences of the TERT and DPH3-OXNAD1 genes. Thus, it is clear that a more complex genetic network of cancer-associated genes than previously hypothesized is involved in BCC carcinogenesis, with a potential impact on the development of new molecular targeted therapies. This article reviews established knowledge and new hypotheses regarding the molecular genetics of BCC pathogenesis.
          Article 0 comments Cited 73 times – based on 0 reviews     Review now
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            Association of nonmelanoma skin cancer and actinic keratosis with cumulative solar ultraviolet exposure in Maryland watermen.

            H Abbey, B C Vitasa, S Ng … (1990)
            To establish the relationship between ultraviolet-B radiation and squamous cell carcinoma (SCC), basal cell carcinoma (BCC), and actinic keratosis (AK), a cross-sectional prevalence survey was performed in a sample of 808 white, male watermen 30 years of age and older residing in the Eastern Shore of Maryland. A measure of personal cumulative ultraviolet-B exposure was determined for each subject from data collected through interviews and field and laboratory measurements. A personal interview elicited skin type, medication history, and other factors. Clinical diagnoses and histologic confirmation were done for current and previously removed skin tumors. The ratio of subjects with SCC to subjects with BCC was approximately 1:1; however, the ratio of BCC to SCC was 1.25:1 because BCC cases were more prone to multiple lesions. Watermen with SCC or AK but not BCC had higher average annual ultraviolet-B doses than age-matched controls. This was particularly marked in watermen younger than 60 years of age. Logistic regression showed that an older age, childhood freckling, and blue eyes significantly increased the risk of the development of all three types of skin tumor. Ease of sunburning was associated with BCC and AK, but not with SCC. Watermen in the upper quartile of cumulative ultraviolet-B exposure had a 2.5 times higher risk for the development of SCC when compared with the lower 3 quartiles. This suggests that high levels of ultraviolet-B exposure are important in SCC occurrence. The risk of AK developing was 1.5 times higher for those whose cumulative ultraviolet-B exposure exceeded the median. The relationship of BCC to cumulative ultraviolet-B exposure was not clear and this suggests that different etiologic mechanisms operate for SCC and BCC.
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              Perianal and genital basal cell carcinoma: A clinicopathologic review of 51 cases.

              Peter G Gibson, Mustafa Ahmed (2001)
              Basal cell carcinoma (BCC) occurring on non-sun-exposed sites, especially the perianal and genital regions, is very rare. We analyzed the incidence, clinical and pathologic features, and etiologic and prognostic factors of all non-nevoid perianal and genital BCCs diagnosed at our institution within a defined period (January 1985-September 1996). A retrospective review was performed with the use of patient clinical records and dermatopathologic slides. Cutaneous biopsy samples were tested for the presence of human papillomavirus (HPV) by in situ hybridization using biotinylated pan-HPV and serotype-specific (6, 11, 16, 18, 31, 33, 51) probes. Of all non-nevoid BCC syndrome cases, 51 BCCs (0.27%) were located within the perianal and genital regions. The average age of the patients was 73 years. Nine perianal BCCs occurred in men, 6 in women. Ten BCCs occurred in the pubic area, 18 on the vulva, 6 on the scrotum, and 2 on the penis. Three patients had 2 tumor sites. The average size of BCC was 1.95 cm; 29.4% were ulcerated. Seventeen patients (36%) had a history of skin cancer on sun-exposed sites and 10 (21%) had a possibly relevant associated condition. HPV was not detected in the specimens tested. Treatments included wide excision (n = 32), electrodesiccation and curettage (n = 10), Mohs micrographic surgery (n = 8), and carbon dioxide laser (n = 1). Of 30 patients with 5 years' follow-up or longer, 1 recurrence was noted 7 years after wide excision. There were no metastases. BCC of the perianal and genital skin is rare and exhibits clinical and histologic heterogeneity. Advancing age and local trauma may contribute to the pathogenesis of BCC at these sites.
              Article 0 comments Cited 28 times – based on 0 reviews     Review now
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                Author and article information

                Journal
                Journal ID (nlm-ta): J Surg Case Rep
                Journal ID (iso-abbrev): J Surg Case Rep
                Journal ID (publisher-id): jscr
                Title: Journal of Surgical Case Reports
                Publisher: Oxford University Press
                ISSN (Electronic): 2042-8812
                Publication date Collection: July 2020
                Publication date (Electronic): 14 July 2020
                Publication date PMC-release: 14 July 2020
                Volume: 2020
                Issue: 7
                Electronic Location Identifier: rjaa151
                Affiliations
                [1 ] Department of General Surgery , Swedish Medical Center , Seattle, WA, USA
                [2 ] Lady of the Lake Physician Group , Department of Colon & Rectal Surgery, Baton Rouge, LA, USA
                [3 ] Swedish Medical Center , Swedish Colon & Rectal Clinic, Seattle, WA
                Author notes
                Correspondence address. Department of General Surgery, Swedish Medical Center, Edward Hagen, 1201 E John St. Apt 6, Seattle, WA 98102, USA. Tel: +1 7124907661; Fax: 206-386-6293; E-mail: ed.hagen@ 123456swedish.org
                Author information
                http://orcid.org/0000-0001-7083-5124
                Article
                Publisher ID: rjaa151
                DOI: 10.1093/jscr/rjaa151
                PMC ID: 7365036
                PubMed ID: 32699596
                SO-VID: 75d0b18a-5e2a-4f2a-8b44-43a5409e74c5
                Copyright © Published by Oxford University Press and JSCR Publishing Ltd. All rights reserved. © The Author(s) 2020.
                License:

                This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License ( http://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com

                History
                Date received : 15 April 2020
                Date accepted : 12 May 2020
                Page count
                Pages: 2
                Categories
                Subject: Jscrep/040
                Subject: AcademicSubjects/MED00910
                Subject: Case Report

                Data availability:

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