Frank-Raue K, Höppner W, Buhr H, Herfarth C, Ziegler R, Raue F
Endokrinologische Gemeinschaftspraxis, Heidelberg, Germany.
Exp Clin Endocrinol Diabetes. 1996;104 Suppl 4:108-10. doi: 10.1055/s-0029-1211715.
In 34 families out of 35 with hereditary medullary thyroid cancer a mutation in the RET proto-ongene could be identified. In 84 family members gene carrier state could be proven, in 75 family members gene carrier state could be excluded. The majority of gene carriers (67 out of 84) were symptomatic while 17 gene carriers were diagnosed in a presymptomatic state. 9 of the 17 presymptomatic gene carriers had prophylactic thyroidectomy. On histological examination C-cell hyperplasia or multifocal microcarcinomas could be proven. In one of our families with familial MTC no germline mutation in the RET gene could be detected. In this family pentagastrintests and indirect genotyping are necessary. Four family members of MEN 2A families have had thyroidectomy on the basis of pentagastrin testing and now proved not to be gene carriers. The application of genetic testing in families with hereditary thyroid carcinoma has further improved management in these families - it is the first step in the evaluation of family members at risk.
在35个患有遗传性甲状腺髓样癌的家庭中，有34个家庭可检测到RET原癌基因的突变。在84名家庭成员中证实为基因携带者，75名家庭成员被排除基因携带者状态。大多数基因携带者（84名中的67名）有症状，而17名基因携带者在症状出现前被诊断出来。17名症状出现前的基因携带者中有9人接受了预防性甲状腺切除术。组织学检查证实有C细胞增生或多灶性微癌。在我们一个患有家族性甲状腺髓样癌的家庭中，未检测到RET基因的种系突变。在这个家庭中，五肽胃泌素试验和间接基因分型是必要的。2A型多发性内分泌腺瘤病家庭的4名家庭成员基于五肽胃泌素试验接受了甲状腺切除术，现在证实不是基因携带者。对遗传性甲状腺癌家庭进行基因检测进一步改善了这些家庭的管理——这是评估有风险家庭成员的第一步。
