下咽鳞状细胞癌中FHIT基因异常表达的研究  

Mutation and abnormal expression of FHIT gene in hypopharyngeal carcinoma

作　　者：吴昊[1] 栾信庸[2] 潘新良[2] 黄剑飞[3] 王强[1] 雷大鹏[2] 

机构地区：[1]南通大学附属医院耳鼻咽喉-头颈外科,江苏南通226001 [2]山东大学齐鲁医院耳鼻咽喉-头颈外科 [3]南通大学附属医院病理科,江苏南通226001

出　　处：《临床耳鼻咽喉头颈外科杂志》2009年第6期245-248,253,共5页Journal of Clinical Otorhinolaryngology Head And Neck Surgery

基　　金：南通大学博士科研基金(No:03040253)

摘　　要：目的:分析下咽鳞状细胞癌中脆性组氨酸三联体FHIT基因转录本的表达,探讨FHIT基因与下咽鳞状细胞癌生物学行为的相关性。方法:应用nestedRT-PCR及DNA测序技术检测24例下咽鳞状细胞癌组织及对应的正常组织标本中FHIT基因的表达情况。结果:24例正常配对下咽组织中23例有FHIT基因完整表达,1例未见任何转录本,9例(37.5%)下咽癌标本中检测出FHIT基因mRNA转录本的异常表达。高分化鳞状细胞癌FHIT基因转录本异常率为28.6%(2/7),中分化鳞状细胞癌为50.0%(4/8),低分化鳞状细胞癌为33.3%(3/9),各个病理分级之间的差异无统计学意义(rs=-0.0198,P>0.05);无淋巴结转移下咽癌FHIT基因转录本异常率为33.3%(4/12),伴淋巴结转移癌组41.7%(5/12),差异无统计学意义(P<0.01)。2例原发性下咽癌经测序发现,分别缺失exon8,exon7～9,所有缺失的起始处均为外显子之间的连接部位。结论:位于3P14.2的FHIT基因在下咽鳞状细胞癌中存在较高的缺失率,提示FHIT基因为下咽鳞状细胞癌的候选抑制基因,在下咽癌的发生、演化和进展中起着重要作用。Objective：To analyze the mutation and abnormal expression of the FHIT Gene in human hypopha- ryngeal carcinoma. Method：Matched normal and cancerous tissues from 24 patients with hypopharyngeal squamous cell carcinoma were obtained immediately after surgery. Total RNA was extracted, the FHIT gene was detected by nested RT-PCR and DNA sequencing technology. Result： Normal sized FHIT transcript was detected in 23 of the 24 cases of normal matched tissues. Aberrant FHIT transcripts were found in 9/24 （37.5%） cases in hypo- pharyngeal carcinoma. Aberrant FHIT transcripts rate of well-differentiated, moderately differentiated and poorly differentiated squamous cell carcinoma, was 28.6 % （2/7） ,50.0% （4/8） and 33.3 % （3/9） , respectively. There The carcinoma with FHIT aberrant transcripts was neither corresponding to histological grade（P〉0.05） nor to lymphatic matastasis. The sequence analyses of the two aberrant cDNAs revealed absence of exon 8 and exon 7-9. All initial deletion were in conjunction of exons. Conclusion： High deletion rate of the FHIT gene in Chinese hypo- pharyngeal squamous cell carcinoma suggested the FHIT gene, a candidate tumor suppressor gene at 3p14. 2, plays an important role in the tumor carcinogenesis, development and progression of the tumor, and thus may be-come a new prognostic marker in hypopharyngeal carcinoma.

关 键 词：下咽肿瘤 癌 鳞状细胞 脆性组氨酸三联体基因 抑癌基因 巢式逆转录聚合酶链反应 

分 类 号：R739.6[医药卫生—肿瘤]