Metabolism, Endocrinology and Diabetes, Department of Internal Medicine, University of Michigan Health System, Ann Arbor, MI, USA.
Mol Cell Endocrinol. 2012 Mar 31;351(1):66-70. doi: 10.1016/j.mce.2011.12.008. Epub 2011 Dec 19.
Our knowledge about inherited susceptibility to adrenocortical carcinoma (ACC) almost exclusively stems from experiences with familial cancer susceptibility syndromes, which are caused by single gene mutations (e.g. Li-Fraumeni syndrome (LFS)). Population-based studies are largely unavailable. ACC diagnosed during childhood is known to be commonly part of hereditary cancer syndromes. Childhood ACC is part of the classical tumor spectrum of LFS and Beckwith-Wiedemann syndrome (BWS). In adults ACC has been reported in patients with multiple endocrine neoplasia (MEN1), familial adenomatous polyposis coli (FAP) and neurofibromatosis type 1 (NF1). However, the evidence associating ACC with these syndromes is less well substantiated. Here, we will review the evidence for genetic predisposition in general and the association with known familial cancer susceptibility syndromes in particular. We will also review current recommendations regarding screening and surveillance of these patients as they apply to a specialized ACC or endocrine cancer clinic.
我们对肾上腺皮质癌（ACC）遗传易感性的了解几乎完全来自于对家族性癌症易感性综合征的经验，这些综合征是由单个基因突变引起的（例如 Li-Fraumeni 综合征（LFS））。基于人群的研究基本上不可用。在儿童期诊断出的 ACC 通常是遗传性癌症综合征的一部分。儿童期 ACC 是 LFS 和 Beckwith-Wiedemann 综合征（BWS）的经典肿瘤谱的一部分。在成年人中，已经在患有多发性内分泌肿瘤（MEN1）、家族性腺瘤性息肉病（FAP）和神经纤维瘤病 1 型（NF1）的患者中报告了 ACC。然而，将 ACC 与这些综合征相关联的证据还不够充分。在这里，我们将回顾遗传易感性的一般证据，以及与已知的家族性癌症易感性综合征的特别关联。我们还将回顾适用于专门的 ACC 或内分泌癌症诊所的这些患者的筛查和监测的当前建议。
