伪装成MEN 1的MEN 2综合征。

MEN 2 syndrome masquerading as MEN 1.

作者信息

Ezzat Tarek, Paramesawaran Rajeev, Phillips Ben, Sadler Greg

机构信息

Department of Endocrine Surgery, John Radcliffe Hospital, Oxford, UK.

出版信息

Ann R Coll Surg Engl. 2012 Sep;94(6):e206-7. doi: 10.1308/003588412X13171221590818.

DOI:10.1308/003588412X13171221590818

PMID:22943324

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3954364/

Abstract

Patients with multiple endocrine neoplasia (MEN) type 2A develop medullary thyroid cancer, which is associated with poor prognosis in its metastatic stage. Hyperparathyroidism is a common finding in both MEN 1 and 2. We report a 68-year-old patient diagnosed clinically with MEN 1 based on the presence of hyperparathyroidism and pituitary Cushing's disease with no supporting genetic evidence. The hyperparathyroidism was later found to be part of MEN 2A with underlying metastatic medullary thyroid cancer. We highlight the importance of genetic confirmation before a diagnosis of MEN 1 is made as other more serious pathologies might be overlooked.

摘要

2A 型多发性内分泌腺瘤病（MEN）患者会发生甲状腺髓样癌，其转移阶段预后较差。甲状旁腺功能亢进在 MEN 1 和 MEN 2 中均很常见。我们报告了一名 68 岁的患者，临床上基于甲状旁腺功能亢进和垂体库欣病诊断为 MEN 1，但无支持性的基因证据。后来发现甲状旁腺功能亢进是 MEN 2A 的一部分，伴有潜在的转移性甲状腺髓样癌。我们强调在诊断 MEN 1 之前进行基因确认的重要性，因为可能会忽略其他更严重的病理情况。