基底细胞癌的分子遗传机制研究进展

Molecular genetic mechanisms of basal cell carcinoma

基底细胞癌是一种最为常见的皮肤癌。近年来研究表明，SHH信号通路的变异在基底细胞癌的发生中起到一个关键的作用，SHH通路的重要成员包括SHH、PTCH1、SM0、GLI，SHH的失调与细胞的PTCH1基因突变相关，SMO的过度激活和转录因子GLI的异常导致多种细胞生长和增殖的基因转录表达上调，并促进了基底细胞癌的形成。SHH信号通路抑制剂对肿瘤的抑制作用为基底细胞癌的治疗提供了一个新的策略。

Basal cell carcinoma （BCC） is the most common skin cancer in human. Recent studies have indicated that mutations in sonic hedgehog （SHH） signaling pathway play an important role in the occurrence of BCC. The key members of SHH pathway include SHH, PTCH1, SMO and GLI. PTCH1 mutations is correlated with the disturbance in SHH signaling pathway. The overexpression of SMO as well as abnormal activities of the transcription factor GLI can upregulate the transcription and expression of genes related to cell proliferation and growth, and finally contribute to the development of BCC. The suppression of small-molecule inhibitors of SHH pathway on tumors may provide new ideas for the treatment of BCC.