脊索瘤与脆性组氨酸三联体基因的相关性研究

Deletion of FHIT gene and protein expression in human chordoma

目的探讨脆性组氨酸三联体(FHIT)基因改变与脊索瘤发生的关系。方法应用逆转录聚合酶链反应(RTPCR)和免疫组织化学(SP)方法对18例脊索瘤和瘤旁正常组织FHIT基因RNA转录本和蛋白表达进行检测。结果RTPCR检测可见11例(61.1%)存在FHIT基因RNA转录本缺失,1例还同时含有正常和异常转录本。对其中2例进行测序,证实1例转录本缺失全部E5～E7外显子及部分E8外显子和部分E10外显子等2个片段;另1例转录本缺失全部E5～E9外显子及绝大部分E10外显子。脊索瘤中FHIT蛋白表达阳性百分比为55.6%(10/18),瘤周正常组织为100.0%(18/18),差异有统计学意义(P<0.05),FHIT蛋白在脊索瘤中表达减低。结论FHIT基因表达缺失是脊索瘤发生的重要事件之一,可能与脊索瘤的发生机制有关。

Objective To study the possible correlation between the deletion of FHIT gene with the carcinogensis of chordoma. Methods Matched normal and cancerous tissues from 18 patients withchordoma were analyzed by RT-PCR and immuneohistochemistry （SP） methods. Results Eleven cases （61.1% ） of cancerous tissues exhibited ddetion of FHIT gene （ the losing fragments ranged from 100-500 bp）, and one case had the presence of normal and abnormal transcripts in its lane. Of the 2 cases subjected to DNA sequencing, one case lost two fragments （all exon 5 to exon 7 and part of exon 8 and 10）,and the other lost all exon 5 to exon 9 and most of exon 10. The positive rate of FHIT protein in 18 cases of chordoma was 55.6 % （10/18）, and 100.0 % （18/18） in normal tissues respectively, with the difference being significant （ P 〈0.05）. Conclusion Deletion of FHIT gene may be very important to carcinogenesis of chordoma.