皮肤鳞状细胞癌FHIT基因的异常改变及意义

Detection and Significance of Abnormality FHIT Gene in Cutis SCC

摘要: 目的检测脆性组氨酸三联体基因在皮肤SCC中外显子5和8的缺失和突变情况，分析该异常在皮肤SCC发生中的作用机制。方法 PCR-SSCP方法检测皮肤SCC患者皮损FHIT基因外显子5和8的缺失和突变状况。结果 10例CSCC组织中，E5有3例缺失，E8有8例缺失，其中有2例同时缺失E5和E8，对扩出的外显子进行SSCP分析没有检测到其突变。结论皮肤SCC中存在外显子5和8的缺失异常，没有发现其突变，这种异常与该肿瘤的发生可能有关，其具体的发生机制需做更进一步的探讨。

Abstract: Objective To detect the deletion and mutation of exon 5 and 8 of fagile histidine triad gene （FHIT） in cutis SCC, and to analyze the role of the abnormality in the carcinogenesis of cutis cancer. Methods The deletion and mutations of exon 5 and 8 of FHIT gene were detected in 10 cutis CSCC tissues by PCR-SSCP methods. Results Deletion of exon 5 was observed in 3 out of 10 SCC tumor samples, and the deletion of exon 8 is 8 out of 10 CSCC. No mutation was found at exon 5 and 8 of FHIT gene. Conclusion Deletion of exon 5 and 8 was observed in cutis SCC and no mutation was found. The abnormality may play a role in the pathogenesis of cutis tumor SCC which deserve further research on the concrete pathogenesis.