Internal Medicine Division, Department of Medical and Surgical Sciences, University of Brescia – Spedali Civili of Brescia, Italy.
J Endocrinol Invest. 2012 Feb;35(2):124-8. doi: 10.1007/BF03345419.
To perform a genetic screening for the multiple endocrine neoplasia type 1 (MEN1) gene mutations in patients affected by an apparently sporadic form of the disease, referred to an internal medicine unit of a large general hospital.
In a group of 12 consecutive patients presenting clinical features of MEN type 1 syndrome, we performed a genetic screening for germline MEN1 gene mutations, including complete sequencing of the coding region (exons 2 to 10) and multiplex ligation-dependent probe amplification analysis for large deletion detection.
Among these patients affected by apparently sporadic MEN type 1 syndrome, a targeted clinical history could detect indirect support for a diagnosis of familial condition only in 2 cases. The genetic screening identified pathogenic germline MEN1 gene mutations in 3 patients (25%). A previously unknown 18 base-pair deletion within exon 3, c.564_581delCAATGGGGAGCAGACAGC, resulting in loss of 6 amino acids (pAsp189_Ala194del), was found in heterozygosis in a woman affected by primary hyperparathyroidism and multifocal pancreatic neoplasia.
Our results underscore the importance of performing genetic testing also in apparently sporadic MEN1 patients and extend the list of molecular variants leading to inactivation of the MEN1 gene.
对就诊于大型综合医院内科的散发型多发性内分泌腺瘤病 1 型（MEN1）患者进行 MEN1 基因突变的基因筛查。
对 12 例临床表现符合 MEN1 综合征的散发性 MEN1 患者进行 MEN1 基因突变的基因筛查，包括对编码区（外显子 2 至 10）的完整测序和用于检测大片段缺失的多重连接依赖性探针扩增分析。
在这 12 例散发型 MEN1 患者中，有 2 例存在明确的家族史，而有针对性的临床病史仅能提示家族性疾病。基因筛查在 3 例（25%）患者中发现致病性的 MEN1 基因突变。一名女性同时患有甲状旁腺功能亢进症和胰腺多灶性肿瘤，其在 MEN1 基因外显子 3 中存在一个新的 18 个碱基对缺失，c.564_581delCAATGGGGAGCAGACAGC，导致 6 个氨基酸（pAsp189_Ala194del）缺失，为杂合子状态。
我们的结果强调了对散发型 MEN1 患者进行基因检测的重要性，并扩展了导致 MEN1 基因失活的分子变异列表。
