SMO基因突变在成釉细胞瘤中的研究进展

Research advances in SMO gene mutation in ameloblastoma

SMO基因编码的蛋白质SMO是sonic hedgehog(SHH)信号通路中至关重要的信号转换器。SHH信号通路与多种人类肿瘤的发生、发展密切相关,异常激活的SHH信号通路通过影响细胞的增殖、分化和凋亡,导致肿瘤发生。研究发现在成釉细胞瘤中,SMO基因是除BRAF基因之外第二常见突变的基因,其较高的突变率使得SMO基因成为成釉细胞瘤分子病理研究领域中的热点。现在已有大量的研究证实,SMO基因突变与成釉细胞瘤的临床特征(如发病部位、组织学、年龄和预后等)有关,这些研究结果为成釉细胞瘤的靶向治疗提供了新的治疗思路,本文就SMO基因突变在成釉细胞瘤中的研究进展及其潜在的临床意义进行综述。

The SMO protein encoded by the smoothened oncogene SMO is a crucial signal converter in the sonic hedgehog(SHH) signalling pathway. This signalling pathway is closely related to the occurrence and development of a variety of human tumours. The abnormally activated SHH signalling pathway leads to tumorigenesis by affecting cell proliferation, differentiation and apoptosis. The study found that in the ameloblastoma, the SMO gene is the second most common mutated gene in addition to the BRAF gene, and this high mutation makes the SMO gene a hotspot in ameloblastoma molecular pathology. Many studies confirmed that the SMO gene mutations are related to the clinical features of ameloblastoma, such as location, histology, age and prognosis. These findings provided new therapeutic ideas for targeted therapy of ameloblastoma. This paper reviewed the research progress of the SMO gene mutations in ameloblastoma and their potential clinical significance.