【摘要】 [目的]探讨家族性甲状腺髓样癌(FMTC)的家系及临床特点。[方法]总结我院自1954年至2000年收治的一组10例家族性甲状腺髓样癌病人。[结果]在147例所收治的甲状腺髓样癌(MTC)中6.8 %为FMTC ,病人平均年龄为29.8岁 ,6例(60%)为双侧甲状腺MTC。10例病人来自6个家族 ,每个亲代不是完全发病甚至晚于子代发病。[结论]FMTC为常染色体显性遗传病 ,其结果显示FMTC家族中基因携带者不一定发展为MTC。测定血清降钙素水平可作为筛选FMTC家族成员中无临床症状MTC者的一种方法。更多还原

【Abstract】 To investigate the pedigree and clinical features of familial medullary thyroid carcinoma(FMTC).The study group consisted of 10 patients with familial medullary thyroid carcinoma enrolled in our hospital between 1954 and 2000.6.8% of the patients had FMTC in 147 cases of MTC.The mean age in the study group was 29.8 years old.Six patients (60%) had bilateral tumors.Ten patients belonged to six families.The disease might not occur in the parental generation or even later than their filial generation.[Conclusions]The family forms of MTC are inherited as autosomal dominant traits with complete penetration but with variable expression.The results indicate that gene carrier in family indefinitely develops the disease.Screening for the members of kindreds with FMTC,who are at high risk for developing MTC,the measurement of plasma calcitonin levels following provocative test often establishes the presence of MTC,even though there is no clinical evidence of disease.更多还原