Regional Centre for Hereditary Endocrine Tumors, Unit of Metabolic Bone Diseases, Department of Internal Medicine, University of Florence, Florence, Italy.
Genet Med. 2009 Dec;11(12):825-35. doi: 10.1097/GIM.0b013e3181be5c97.
MEN 1 is a rare hereditary cancer syndrome which manifests a variety of endocrine and non-endocrine neoplasms and lesions. Growing knowledge of this condition in both its molecular genetic underpinnings and its clinical implications have affected the entire spectrum of the clinical management of MEN patients. The MEN1 gene is a tumor suppressor gene, and mutations in it account for the development of the MEN1 clinical syndrome through impairment of several cell functions, such as cell proliferations, cell growth control, apoptosis, DNA replication and repair, gene expression, transcriptional machinery control, and hormone secretion. Currently, DNA testing makes possible the early identification of germline mutations in asymptomatic mutation carriers. The ever increrasing combination of genetic and clinical tools will allow early detection of MEN1-associated neoplasms, potentially improving clinical outcomes and quality of life for both affected patients and their relatives.
MEN1 是一种罕见的遗传性癌症综合征，表现为多种内分泌和非内分泌肿瘤和病变。对这种疾病的分子遗传基础及其临床意义的日益了解，影响了 MEN 患者临床管理的整个范围。MEN1 基因是一种肿瘤抑制基因，其突变通过损害细胞增殖、细胞生长控制、细胞凋亡、DNA 复制和修复、基因表达、转录机制控制和激素分泌等多种细胞功能，导致 MEN1 临床综合征的发生。目前，DNA 检测可实现对无症状突变携带者种系突变的早期识别。越来越多的遗传和临床工具的结合将有助于早期发现 MEN1 相关肿瘤，从而有可能改善受影响患者及其亲属的临床结局和生活质量。
