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同卵双胞胎中伴不一致嗜铬细胞瘤(西普尔综合征)的一致甲状腺髓样癌(作者译)

[Concordant medullary thyroid carcinoma in identical twins with discordant phaeochromocytoma (Sipple syndrome) (author's transl)].

作者信息

Pohl G, Boeckl O, Galvan G, Salis-Samaden R, Steiner H, Thurner J

出版信息

Wien Klin Wochenschr. 1977 Jul 15;89(14):481-4.

PMID:899022
Abstract

The first case of Sipple syndrome in identical twins is reported. It is concluded that the concordant medullary carcinoma of the thyroid is the result of a germinal mutation, whilst the discordant solitary phaeochromocytoma is caused by a somatic mutation according to the two mutation model. The practical conclusion to be drawn from this report is that if one identical twin develops carcinoma of the thyroid or a phaeochromocytoma, the other twin should be throughly investigated and surgical exploration undertaken, even in the absence of clinical evidence of disease.

摘要

本文报道了同卵双胞胎中首例多发性内分泌腺瘤病2型(Sipple综合征)病例。研究得出结论,根据双突变模型,甲状腺髓样癌一致性发病是生殖细胞突变的结果,而孤立性嗜铬细胞瘤不一致发病则是体细胞突变所致。从本报告得出的实际结论是,如果同卵双胞胎中的一人患甲状腺癌或嗜铬细胞瘤,即使另一人没有疾病的临床证据,也应对其进行全面检查并进行手术探查。

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