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[甲状腺癌伴淀粉样基质筛查中的家族性调查。对同一家族80名成员进行的个人调查结果报告]

[Familial surveys in screening for thyroid cancers with amyloid stroma. Report of a personal survey carried out on 80 members of the same family].

作者信息

Allannic H, Lorcy Y, Cornec A, Le Marec B, Calmettes C

出版信息

Ann Endocrinol (Paris). 1980 Jan-Feb;41(1):31-41.

PMID:7396392
Abstract

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.

摘要

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。

相似文献

1
[Familial surveys in screening for thyroid cancers with amyloid stroma. Report of a personal survey carried out on 80 members of the same family].[甲状腺癌伴淀粉样基质筛查中的家族性调查。对同一家族80名成员进行的个人调查结果报告]
Ann Endocrinol (Paris). 1980 Jan-Feb;41(1):31-41.
2
[Thyroid cancer with amyloid stroma. Results of a familial study].[伴有淀粉样间质的甲状腺癌。一项家族性研究的结果]
Ann Endocrinol (Paris). 1979 Jan-Feb;40(1):61-2.
3
[Value of the assay of plasma carcinoembryonic antigen and thyrocalcitonin in the detection of medullary cancer of the thyroid with amyloid stroma. Results of a familial survey of 47 subjects].[血浆癌胚抗原和甲状腺降钙素检测在伴有淀粉样间质的甲状腺髓样癌检测中的价值。47名受试者的家族调查结果]
Ann Med Interne (Paris). 1984;135(5):341-4.
4
[Sipple's syndrome: a study through three generations. HLA--carcino-embryonic antigen system. Preliminary results (author's transl)].
Ann Med Interne (Paris). 1980;131(5):291-6.
5
[Screening for the familial form of medullary cancer of the thyroid].
Bull Cancer. 1984;71(2):125-9.
6
Familial and sporadic medullary thyroid carcinoma: clinical and immunohistological findings.家族性和散发性甲状腺髓样癌:临床及免疫组织学发现
Q J Med. 1987 Nov;65(247):899-910.
7
Familial nonmultiple endocrine neoplasia medullary thyroid carcinoma: an evolving clinical entity.家族性非多发性内分泌肿瘤性甲状腺髓样癌:一种不断演变的临床实体。
Surgery. 1992 Oct;112(4):728-32; discussion 732-3.
8
Familial medullary thyroid carcinoma.家族性甲状腺髓样癌
Lancet. 1978 May 13;1(8072):1009-11. doi: 10.1016/s0140-6736(78)90736-5.
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[Experience with presymptomatic screening of patients with C cell carcinoma of the thyroid gland].[甲状腺C细胞癌患者的症状前筛查经验]
Chirurg. 1993 Jan;64(1):28-35.
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[Value of the pentagastrin test in familial hypercalcitoninemia].[五肽胃泌素试验在家族性高降钙素血症中的价值]
Ann Endocrinol (Paris). 1982 Jul-Sep;43(4):299-300.

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