Laboratory of Radiation Biology & Biomedicine, Agenzia Nazionale per le Nuove Tecnologie, l'Energia e lo Sviluppo Economico Sostenibile, Centro Ricerche Casaccia, 00123 Rome, Italy.
Future Oncol. 2010 Jun;6(6):1003-14. doi: 10.2217/fon.10.49.
Basal cell carcinoma (BCC) is the most frequent cancer in the white population and its incidence appears to be increasing worldwide. While the majority of BCCs arise sporadically, many cases are attributable to basal cell nevus syndrome, or Gorlin syndrome, an autosomal dominantly inherited disorder characterized by the occurrence of multiple BCCs and by extracutaneous tumors. Genetic studies on patients with basal cell nevus syndrome indicate deregulation of the Hedgehog (Hh) pathway in epidermal keratinocytes as the primary event in the pathogenesis of BCC. This article summarizes the recent progress in understanding Hh-dependent BCC tumorigenesis, as well as evidence for deregulation of other molecular pathways, primarily the Wnt developmental pathway. Understanding the molecular genetics of BCC development has provided new opportunities for molecular therapy of this cancer by targeting Hh and other signaling pathways.
基底细胞癌（BCC）是白人中最常见的癌症，其发病率似乎在全球范围内呈上升趋势。虽然大多数 BCC 是散发性的，但许多病例归因于基底细胞痣综合征或 Gorlin 综合征，这是一种常染色体显性遗传疾病，其特征是多发性 BCC 和皮肤外肿瘤的发生。对基底细胞痣综合征患者的遗传研究表明，表皮角质形成细胞中 Hedgehog（Hh）途径的失调是 BCC 发病机制中的主要事件。本文总结了近年来对 Hh 依赖性 BCC 肿瘤发生的理解，以及其他分子途径失调的证据，主要是 Wnt 发育途径。对 BCC 发生的分子遗传学的理解为通过靶向 Hh 和其他信号通路进行这种癌症的分子治疗提供了新的机会。
