Department of Surgical Oncology, University of Texas MD Anderson Cancer Center, 1400 Pressler Street, Houston, TX 77030, USA; Department of Clinical Cancer Genetics, University of Texas MD Anderson Cancer Center, 1400 Pressler Street, Houston, TX 77030, USA.
Department of Endocrine Neoplasia and Hormonal Disorders, University of Texas MD Anderson Cancer Center, 1400 Pressler Street, Houston, TX 77030, USA.
Endocrinol Metab Clin North Am. 2017 Jun;46(2):491-502. doi: 10.1016/j.ecl.2017.01.011. Epub 2017 Mar 18.
Multiple endocrine neoplasia syndromes types 1 and 2 represent well-characterized yet clinically heterogeneous hereditary conditions for which diagnostic and management recommendations exist; genetic testing for these inherited endocrinopathies is included in these guidelines and is an important part of identifying affected patients and their family members. Understanding of these mature syndromes is challenged as more individuals undergo genetic testing and genetic data are amassed, with the potential to create clinical conundrums that may have an impact on individualized approaches to management and counseling. Clinicians who diagnose and treat patients with MEN syndromes should be aware of these possibilities.
多发性内分泌腺瘤综合征 1 型和 2 型是两种特征明确但临床表现存在显著差异的遗传性疾病，目前已有相关的诊断和治疗建议。这些遗传性内分泌疾病的基因检测也包含在本指南中，是确定受影响患者及其家庭成员的重要组成部分。随着越来越多的人接受基因检测并积累了遗传数据，这些成熟综合征的理解受到了挑战，这可能会产生一些临床难题，从而对管理和咨询的个体化方法产生影响。诊断和治疗 MEN 综合征患者的临床医生应该意识到这些可能性。
