Allannic H, Lorcy Y, Cornec A, Le Marec B, Calmettes C
Ann Endocrinol (Paris). 1979 Jan-Feb;40(1):61-2.
We have recently studied a kindred in which there have been 2 proven and 2 probable cases of medullary thyroid carcinoma without pheochromocytoma, hyperparathyroidism or Cushing's disease. Four other members suffered from intestinal occlusion and death occurred in three of them. The family has been traced through 4 generations (80 members) and 47 members could be examined; circulating calcitonin and carcinoembryonic antigen levels were measured. This study leads to two conclusions: 1) Medullary thyroid carcinoma is transmitted as an autosomal dominant trait with a high degree of penetrance. 2) Carcinoembryonic antigen is a valuable tumour marker particularly if no calcitonin radioimmunoassay is avialable for the diagnosis of M.C.T.
我们最近研究了一个家族，其中有2例经证实和2例可能的甲状腺髓样癌病例，无嗜铬细胞瘤、甲状旁腺功能亢进或库欣病。另外四名家族成员患有肠梗阻，其中三人死亡。该家族已追溯了四代（80名成员），47名成员接受了检查；测量了循环降钙素和癌胚抗原水平。这项研究得出两个结论：1）甲状腺髓样癌作为常染色体显性性状传递，外显率很高。2）癌胚抗原是一种有价值的肿瘤标志物，特别是在没有降钙素放射免疫测定法用于甲状腺髓样癌诊断的情况下。
