Hereditary tumour syndromes featuring basal cell carcinomas.

Abstract

Basal cell carcinoma (BCC) is the most frequent cutaneous malignancy worldwide. This skin tumour is characterized by a broad phenotypic variability and distinct histopathological subtypes. It shows slow, locally invasive growth and only rarely metastasizes. BCCs can occur either sporadically or in the context of genetic syndromes, including Gorlin syndrome, Bazex-Dupré-Christol syndrome, Rombo syndrome, Oley syndrome and xeroderma pigmentosum. Different genes and signalling routes have been shown to play an important role in the development and growth of these tumours, including the hedgehog and Wnt/β-catenin pathway. In some of the aforementioned hereditary disorders the underlying genetic defect is still unknown whereas in others several genes have been demonstrated to be involved. Currently, most therapeutic approaches are based on surgical measures. In the case of superficial BCCs, photodynamic therapy, 5-fluorouracil cream, imiquimod or radiotherapy also may be an option. Elucidation of the molecular mechanisms governing the manifestation of BCCs in monogenetically inherited tumour syndromes will not only contribute to a better understanding of the complex pathogenesis of these tumours but might pave the way to the development of noninvasive, specific and molecule-based therapeutic strategies in the near future.