喉鳞癌中FHIT基因第5,8外显子纯合性缺失及突变研究

目的探讨喉鳞癌(laryngealsquamouscellcarcinoma,LSCC)组织中脆性组氨酸三联体(FHIT)基因第5,8外显子纯合性缺失及突变的情况。方法分别采用外显子特异PCR及PCR-SSCP技术检测41例LSCC中FHIT基因第5,8外显子纯合性缺失及点突变。结果LSCC中,第5外显子纯合性缺失率为26.8%(11/41),且与患者TNM分期及淋巴结转移有关(P<0.05);第8外显子纯合性缺失率为29.3%(12/41),且与患者TNM分期、病理分级及淋巴结转移有关(P<0.05);FHIT基因第5,8外显子的纯合性缺失有明显的相关性(P<0.01);所有标本没有检测到第5,8外显子的点突变。结论LSCC中,FHIT基因第5,8外显子为其基因缺失的重要靶区,两者的纯合性缺失可作为检测LSCC生物学行为的重要标志。LSCC中,点突变可能不是FHIT基因失活的主要机制。

Homozygous Deletion and Mutation of Exon5 and Exon8 of FHIT Gene in Laryngeal Squamous Cell Carcinoma

Purpose To investigate the frequencies of homozygous deletion and mutation of Exon5 and Exon8 of fragile histidine triad (FHIT) gene in laryngeal squamous cell carcinoma (LSCC) and to evaluate the clinical significance. Methods Exon-specific PCR amplification technique and PCR single strand conformation polymorphism (PCR-SSCP) technique were used to detect homozygous deletion and mutation of Exon5 and Exon8 of FHIT gene in 41 cases of LSCC. Results Rate of homozygous deletion of Exon5 was 26.8%(11/41),and it was related to the tumor TNM stage and lymph node metastasis (P<0.05).The rate of homozygous deletion of Exon8 was 29.3%(12/41),and it was related to the tumor pathological grade,TNM stage and lymph node metastasis (P<0.05).There was distinct correlation between homozygous deletion of Exon5 and Exon8 (P<0.01).No point mutation was found in Exon5 and Exon8. Conclusions Exon5 and Exon8 might be important target regions of deletion of FHIT gene,and homozygous deletion of Exon5 and Exon8 might be good biomarkers for evaluating the biological behavior of LSCC.Point mutation might not important in inactivation of FHIT gene in LSCC.