This evidence summary covers basal cell carcinoma (BCC) and squamous cell carcinoma (SCC) of the skin, and the related noninvasive lesion actinic keratosis (viewed by some pathologists as a variant of in situ SCC ). Although BCC and SCC are by far the most frequent types of nonmelanoma skin cancers, approximately 82 types of skin malignancies, with a wide range of clinical behaviors, fall into the category of nonmelanoma skin cancer. Other types of malignant disease of the skin include the following:
The clinical utility of the test refers to the likelihood that the test will, by prompting an intervention, result in an improved health outcome. The clinical utility of a genetic test is based on the health benefits related to the interventions offered to people with positive test results. Theoretically, there are at least five strategies that might improve the health outcome of people with a genetic susceptibility to cancer:
Correction of the underlying genetic defect (not currently available)...
BCC and SCC are both of epithelial origin. They are usually diagnosed on the basis of routine histopathology obtained from a shave, punch, or fusiform excisional biopsy.
Basal Cell Carcinoma
BCC is at least three times more common than SCC in nonimmunocompromised patients. It usually occurs on sun-exposed areas of skin, and the nose is the most frequent site. Although there are many different clinical presentations for BCC, the most characteristic type is the asymptomatic nodular or nodular ulcerative lesion that is elevated from the surrounding skin, has a pearly quality, and contains telangiectatic vessels.
BCC has a tendency to be locally destructive. High-risk areas for tumor recurrence after initial treatment include the central face (e.g., periorbital region, eyelids, nasolabial fold, or nose-cheek angle), postauricular region, pinna, ear canal, forehead, and scalp. A specific subtype of BCC is the morpheaform type. This subtype typically appears as a scar-like, firm plaque. Because of indistinct clinical tumor margins, the morpheaform type is difficult to treat adequately with traditional treatments.
BCCs are composed of nonkeratinizing cells derived from the basal cell layer of the epidermis. They are slow growing and rarely metastasize. However, they can result in serious deforming damage locally if left untreated or if local recurrences cannot be completely excised. BCCs often have a characteristic mutation in the patched 1 tumor suppressor gene (PTCH1), although the mechanism of carcinogenesis is not clear.
Squamous Cell Carcinoma
SCCs also tend to occur on sun-exposed portions of the skin, such as the ears, lower lip, and dorsa of the hands. However, SCCs that arise in areas of non-sun-exposed skin or that originate de novo on areas of sun-exposed skin are prognostically worse because they have a greater tendency to metastasize than those that occur on sun-exposed skin that develop from actinic keratosis. People with chronic sun damage, sites of prior burns, arsenic exposure, chronic cutaneous inflammation as seen in longstanding skin ulcers, and sites of previous x-ray therapy are predisposed to the development of SCC.