Allannic H, Lorcy Y, Cornec A, Le Marec B, Calmettes C
Ann Endocrinol (Paris). 1980 Jan-Feb;41(1):31-41.
We have recently studied a large family of 80 persons in which 47 were examined. The evaluation included history, blood pressure determination, palpation of the thyroid gland and determination of serum carcino-embryonic antigen (C.E.A.) and calcitonin (C.T.). Two members of the kindred had a proven M.C.T. without pheochromocytoma, hyperparathyroidism or Cushing's disease and two others a probable M.C.T. Four members suffered from intestinal occlusion and death occurred in three of them. Our conclusions are: 1) In this family traced through 4 generations: it appears that M.C.T. is transmitted as an autosomal dominant trait with a high degree of penetrance; 2) Our cases associated with those reported in the literature in the past few years point to the existence of a rare but distinct syndrome characterised by the association of M.C.T. and congenital megacolon with hyperplasia of the myenteric plexus; 3) As far as we know, this is the first indication of C.E.A. coupled with elevated calcitonin among several individuals of the same family. We confirm here the conclusions of previous studies: "C.E.A. is a valuable tumour marker which can be used for the detection of M.C.T., particularly if no calcitonin radio-immuno assay is available.
我们最近研究了一个由80人组成的大家庭,其中47人接受了检查。评估内容包括病史、血压测定、甲状腺触诊以及血清癌胚抗原(C.E.A.)和降钙素(C.T.)的测定。该家族中有两名成员被证实患有髓样癌,无嗜铬细胞瘤、甲状旁腺功能亢进或库欣病,另外两名成员可能患有髓样癌。四名成员患有肠梗阻,其中三人死亡。我们的结论是:1)在这个追溯到四代的家族中:髓样癌似乎作为一种常染色体显性性状传递,且具有高度的外显率;2)我们的病例与过去几年文献中报道的病例表明,存在一种罕见但独特的综合征,其特征为髓样癌与先天性巨结肠伴肌间神经丛增生相关联;3)据我们所知,这是同一家庭中数人癌胚抗原与降钙素升高的首个迹象。我们在此证实了先前研究的结论:“癌胚抗原是一种有价值的肿瘤标志物,可用于髓样癌的检测,尤其是在没有降钙素放射免疫测定的情况下。