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双胞胎中的2B型多发性内分泌腺瘤病

Multiple endocrine neoplasia type 2b in twins.

作者信息

Galera H, Gonzalez-Campora R, Matilla A, Martin I

出版信息

Histopathology. 1982 Jan;6(1):111-9. doi: 10.1111/j.1365-2559.1982.tb02706.x.

Abstract

The syndrome of multiple endocrine neoplasia (MEN or MEA) type 2b is characterized by the association of medullary carcinoma of the thyroid, phaeochromocytoma, ganglioneuromatosis and Marfan-like features. Though this disorder usually shows a familial distribution, it may also appear spontaneously as the result of a genetic mutation. This paper describes the second case of MEA type 2 in twins, and appears to be the first description in twins of the association of medullary carcinoma of the thyroid, Marfan-like features and multiple neuromas.

摘要

2b型多发性内分泌腺瘤病(MEN或MEA)综合征的特征是甲状腺髓样癌、嗜铬细胞瘤、神经节瘤病和类马方综合征特征同时出现。尽管这种疾病通常呈家族性分布,但也可能由于基因突变而自发出现。本文描述了双胞胎中第二例2型MEA病例,似乎也是首例关于双胞胎中甲状腺髓样癌、类马方综合征特征和多发性神经瘤并存的报道。

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