Reifenberger J
Hautklinik, Heinrich-Heine-Universität, 40225, Düsseldorf.
Hautarzt. 2007 May;58(5):406-11. doi: 10.1007/s00105-007-1324-y.
Basal cell carcinoma is the most common human cancer. Its incidence is steadily increasing. The development of basal cell carcinoma is linked to genetic factors, including the individual skin phototype, as well as the cumulative exposure to UVB. The vast majority of basal cell carcinomas are sporadic tumors, while familial cases associated with certain hereditary syndromes are less common. At the molecular level, basal cell carcinomas are characterized by aberrant activation of sonic hedgehog signaling, usually due to mutations either in the ptch or smoh genes. In addition, about half of the cases carry mutations in the tp53 tumor suppressor gene, which are often UVB-associated C-->T transition mutations. Clinically, basal cell carcinomas may show a high degree of phenotypical variability. In particular, tumors occurring in atypical locations, showing an unusual clinical appearance, or imitating other skin diseases may cause diagnostic problems. This review article summarizes the current state of the art concerning the etiology, predisposition and molecular genetics of basal cell carcinoma. In addition, examples of unusual clinical manifestations are illustrated.
基底细胞癌是人类最常见的癌症。其发病率正在稳步上升。基底细胞癌的发生与遗传因素有关，包括个体皮肤光类型，以及紫外线B的累积暴露。绝大多数基底细胞癌是散发性肿瘤，而与某些遗传综合征相关的家族性病例则较少见。在分子水平上，基底细胞癌的特征是音猬因子信号通路异常激活，通常是由于ptch或smoh基因的突变。此外，约一半的病例携带tp53肿瘤抑制基因突变，这些突变通常是与紫外线B相关的C→T转换突变。临床上，基底细胞癌可能表现出高度的表型变异性。特别是，发生在非典型部位、表现出异常临床外观或模仿其他皮肤病的肿瘤可能会导致诊断问题。这篇综述文章总结了关于基底细胞癌的病因、易感性和分子遗传学的当前技术水平。此外，还举例说明了不寻常的临床表现。
