| 江 梅,乔法敏,和占华.遗传性多发性外生骨疣家系的EXT基因突变检测[J].肿瘤学杂志,2019,25(2):162-165. |
| 遗传性多发性外生骨疣家系的EXT基因突变检测 |
| Screening of EXT Gene Mutation in A Pedigree with Hereditary Multiple Exostoses |
| 投稿时间：2018-03-26 |
| DOI：10.11735/j.issn.1671-170X.2019.02.B016 |
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| 中文关键词: 遗传性多发性骨疣 EXT基因 连锁分析 |
| 英文关键词:desmoplastic small round cell tumor diagnosis treatment |
| 基金项目: |
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| 摘要点击次数: 2010 |
| 全文下载次数: 526 |
| 中文摘要: |
| 摘 要：［目的］ 对遗传性多发性骨疣(hereditary multiple exostoses，EXT)也称遗传性多发性骨软骨瘤（HME）家系的EXT1和EXT2基因编码序列进行突变检测，寻找引起该家系EXT的致病基因突变。［方法］ 利用与EXT1、EXT2紧密连锁的短串联重复序列（short tandem repeat，STR）对该家系进行连锁分析，确定候选基因，然后对候选基因的编码区及外显子与内含子交界处进行PCR-测序法进行突变分析。［结果］ DNA测序分析发现，先证者致病基因EXT2第三外显子有一新的637G>A无义突变，致使编码第192位的氨基酸的密码子，提前出现终止密码，使编码蛋白成为只有191个氨基酸的截断型蛋白。突变与疾病共分离，其余外显子未发现突变。家系调查发现，该突变来自于先证者父亲，先证者EXT1基因未发现变异。［结论］ EXT2基因637G>A突变是导致该家系发生多发性骨疣的分子机制。 |
| 英文摘要: |
| Abstract：Desmoplastic small round cell tumor(DSRCT) is a very rare，highly aggressive malignant soft tissue sarcoma usually occurring in abdominal and pelvic cavity of male adolescents. The specific organs or tissue types of origin are not identified. The disease is lack of characteristic clinical manifestations. Its diagnosis is based on clinicopathological features，immune phenotype and molecular genetics. DSRCT is associated with a unique chromosomal translocation t(11，22)(P13；q12)，generating EWS-WT1 fusion gene. Reverse transcriptase-polymerase chain reaction(RT-PCR)，fluorescence in situ hybridization and Southern blot are used to detect the fusion gene and to indentify the DSRCT. The prognosis of DSRCT is very poor，and the median survival time ranges from 17 to 25 months. The optimal management of DSRCT at present is not consentient. Multi-disciplinary comprehensive treatment including debulking surgery，chemotherapy，radiation，and hyperthermal intraperitoneal chemotherapy(HIPEC) may prolong survival time to a certain extent，however，the overall effect is poor. Emerging therapeutic measures such as targeted therapy and immune therapy need to be further studied. |
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