| 丁 燕,冯 俊,应荣彪.多发性内分泌腺瘤病2A型家系RET基因突变筛查的临床意义[J].肿瘤学杂志,2019,25(3):234-238. |
| 多发性内分泌腺瘤病2A型家系RET基因突变筛查的临床意义 |
| Clinical Ｓignificance of RET Ｐroto-oncogene Ｓcreening in Ｆamily with Ｍultiple Ｅndocrine Ｎeoplasia Ｔype 2A |
| 投稿时间：2018-08-16 |
| DOI：10.11735/j.issn.1671-170X.2019.03.B012 |
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| 中文关键词: 多发性内分泌腺瘤病2A型 RET原癌基因 突变 |
| 英文关键词:multiple endocrine neoplasia type 2a ret proto-oncogene mutation |
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| 中文摘要: |
| 摘 要：［目的］ 探讨多发性内分泌腺瘤病2A的临床诊治特点及RET原癌基因检测的意义。［方法］ 对1个MEN2A家系进行家系调查，并提取外周血进行RET原癌基因测序和降钙素检测，并绘制家系图。［结果］ 10名家族成员均存在RET原癌基因第11外显子第634位点TGC→TAC杂合错义突变，即p.C634Y突变，其中病理确诊MEN2A患者7例，另3名成员为该基因突变携带者。家系分析显示Ⅲ、Ⅳ、Ⅴ代中均有基因突变者，并符合单基因显性遗传病的传递规律。经随访发现，接受手术4例患者术后降钙素及CEA升高，其中3例B超示甲状腺肿块，1例甲状腺残留。3名基因突变携带者中，2名降钙素升高，1名经B超示双侧甲状腺小结节，但降钙素水平正常。［结论］ 对MEN2A家系进行RET基因测序和降钙素检测，有利于早期诊断以改善预后；对无症状的RET基因突变携带者，应根据其降钙素水平，实施个体化的预防性甲状腺全切除除或严密随访观察。 |
| 英文摘要: |
| Abstract：［Objective］ To explore the clinical significance of RET proto-oncogene screening in family with multiple endocrine neoplasia type 2A(MEN2A). ［Methods］ Comprehensive medical history was obtained from 23 members in a 5-generation family with MEN2A. The investigations included biochemical testing，imaging examinations and germline RET gene sequencing. ［Results］ The Cys(TGC)634Arg (CGC) missense mutation in exon 11 of the RET proto-oncogene were detected in 10 members of the family，among whom 7 were pathologically diagnosed as MEN2A，the other 3 were mutant gene carriers. Pedigree analysis showed that the Ⅲ，Ⅳ，Ⅴgeneration had gene mutation in accordance with the rules of monogenic disease. During follow-up in 4 patients receiving operation，the calcitonin and CEA levels were elevated，and ultrasonography showed thyroid mass in 3 cases and thyroid remnant in 1 case. In 3 mutant gene carriers，calcitonin level was elevated in 2 cases，1 case had normal calcitonin level and bilateral thyroid nodules in ultrasonography. ［Conclusion］ For the family with MEN2A，RET gene screening and determination of basal serum calcitonin are of value in early diagnosis，early treatment of MEN2A patients or in follow-up and monitoring of RET mutation carriers. |
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