颈动脉体瘤相关致病基因与其临床病理特征关系的初步研究

摘要

Objective:To study the relationship between the clinicopathological characters and the mutation situ and frequency of SDHB.SDHC and SDHD in patients with carotid body tumor in China. Methods: Twenty four CBT patients with complete clinical and pathological data were investigated. All of them were preliminarily diagnosed at Tianjin Medical University Cancer Hospital from 2006 April to 2011 January. Organization genomic DNA was extracted by blood/cell/organization genomic DNA extracted kit. Each amplification fragment of SDHB, SDHC and SDHD exons gained through PCR were sequenced directly after purification. Finaly the results of sequencing were compaired with standard sequence published in the NCBI net using the software of BLAST. Results: In this study, 4/21 (19.1% )benign patients had SDH mutation. One was SDHB gene mutation, three were SDHD gene mutation. One missense germline mutation in SDHB - exon 6, S198R. Two same - sense germline mutation in SDHD - exon 2, R38X; a missense germline mutation in SDHD - exon 3, H104P. 2/3 (66. 7% ) malignant patients had SDH gene mutation. Both carried samesense mutation in SDHB -exon 1 A6A. Conclusion: In this study, CBT patients proned to carry a mutation in SDHB and SDHD. It is consistent with the view that SDHD gene mutations mainly related with benign CBT, and SDHB gene mutations mainly related with malignant CBT.%目的:初步了解与颈动脉体瘤(carotid body tumor,CBT)发病相关的琥珀酸脱氢酶(succinate dehydrogenase,SDH)亚单位B、C、D基因突变位点、突变率及其与临床病理特征之间的关系.方法:选取2006年4月至2011年1月间天津医科大学附属肿瘤医院收治具有完整临床资料的24例CBT患者作为研究对象,统计其年龄、性别、肿瘤大小、单双侧、良恶性等临床特征.同时提取患者肿瘤组织/外周血细胞基因组DNA,PCR法扩增SDHB、SDHC、SDHD基因各外显子后测定DNA序列,并将测序结果与临床资料进行配比分析.结果:24例CBT患者中良性21例,其中4例(19.1％)患者携带SDH基因突变,分别为SDHB 1例(4.8％),SDHD 3例(14.3％)；SDHB基因为发生于第六外显子的错义突变S198R；SDHD基因突变中,2例为发生于第二外显子的无义突变R38X,1例为发生于第三外显子的错义突变H104P；3例恶性病例中,2例(66.7％)患者携带SDH基因突变,均为SDHB第一外显子的同义突变A6A.结论:国人CBT患者易携带SDHB、SDHD基因突变,其中SDHD基因突变主要与良性CBT发病相关；SDHB基因突变与恶性CBT发生有一定的相关性.