Division of Endocrinology, Department of Medicine, Health Sciences Centre, Universidade Estadual de Londrina, Londrina, Paraná, Brazil.
Clin Endocrinol (Oxf). 2012 Jul;77(1):1-10. doi: 10.1111/j.1365-2265.2012.04403.x.
Adrenocortical tumours (ACT), which include adenomas, carcinomas and adrenal hyperplasia, may be associated with genetic syndromes, such as Li-Fraumeni syndrome, Beckwith-Wiedemann syndrome, multiple endocrine neoplasia type 1, familial adenomatous polyposis and Carney complex. Genetic defects have been found to be responsible for the disease in most of these syndromes, allowing genetic counselling to affected patients and family members. Here, we summarize the clinical criteria of these hereditary syndromes and briefly describe the genetic alterations related to them. In addition, we discuss the involvement of various genetic defects in the development of sporadic adrenocortical tumours.
肾上腺皮质肿瘤（adrenocortical tumours，ACT）包括腺瘤、癌和肾上腺增生，可能与遗传综合征有关，如 Li-Fraumeni 综合征、Beckwith-Wiedemann 综合征、多发性内分泌腺瘤病 1 型、家族性腺瘤性息肉病和 Carney 复合征。这些综合征中的大多数疾病都是由遗传缺陷引起的，这使得对受累患者及其家庭成员进行遗传咨询成为可能。在这里，我们总结了这些遗传性综合征的临床标准，并简要描述了与之相关的遗传改变。此外，我们还讨论了各种遗传缺陷在散发性肾上腺皮质肿瘤发生中的作用。
