Petr Elisabeth Joye, Else Tobias
University of Michigan, Michigan Medicine, Department of Internal Medicine, Metabolism, Endocrinology and Diabetes, 500 S State St, Ann Arbor, 48109, MI, USA.
University of Michigan, Michigan Medicine, Department of Internal Medicine, Metabolism, Endocrinology and Diabetes, 500 S State St, Ann Arbor, 48109, MI, USA.
Presse Med. 2018 Jul-Aug;47(7-8 Pt 2):e119-e125. doi: 10.1016/j.lpm.2018.07.004. Epub 2018 Aug 10.
Adrenocortical carcinoma (ACC), particularly when occurring during childhood, has been a traditional component of the tumor spectrum of Li-Fraumeni syndrome. Recent research has defined a significant risk increase of ACC with other familial cancer syndromes, such as Lynch syndrome and multiple endocrine neoplasia. ACC patients can serve as index patients for a new family diagnosis of a hereditary syndrome, allowing for further family cascade genetic testing, impacting the care and surveillance for patients and at risk family members. Individuals carrying pathogenic genetic variants can embark on a regular preventive screening and surveillance protocol likely reducing morbidity and mortality. Although several of these hereditary predisposition syndromes lead to a very high relative risk increase for ACC, the absolute risk most often does not reach a level to recommend general screening for ACC in carriers of pathogenic mutations. The larger value lies in the ability to screen for other commonly associated tumors in pathogenic variant carriers, such as colon cancer with Lynch syndrome. Here, we review the risk for ACC associated with hereditary syndromes and suggest an approach for genetic evaluation for ACC patients.
肾上腺皮质癌（ACC），尤其是发生在儿童期时，一直是李-弗劳梅尼综合征肿瘤谱的传统组成部分。最近的研究表明，ACC与其他家族性癌症综合征（如林奇综合征和多发性内分泌腺瘤病）的风险显著增加。ACC患者可作为遗传性综合征新家族诊断的索引患者，从而进行进一步的家族级联基因检测，影响患者及高危家庭成员的护理和监测。携带致病性基因变异的个体可以开始定期的预防性筛查和监测方案，这可能会降低发病率和死亡率。尽管这些遗传性易感性综合征中的几种会导致ACC的相对风险大幅增加，但绝对风险通常未达到建议对携带致病性突变的个体进行ACC常规筛查的水平。更大的价值在于能够对致病性变异携带者中的其他常见相关肿瘤进行筛查，例如林奇综合征患者的结肠癌。在此，我们综述了与遗传性综合征相关的ACC风险，并提出了一种ACC患者基因评估的方法。
