Haase M, Willenberg H S
Department of Endocrinology, Diabetes and Rheumatology, University Hospital Duesseldorf, Duesseldorf, Germany.
Minerva Endocrinol. 2009 Jun;34(2):123-35.
Relatively frequent, adrenal masses include a multitude of different tumor types: uni- or bilateral hyperplasias, adenomas, and the rare entity of adrenocortical carcinomas. With significant progress in our appreciation of their underlying molecular pathomechanisms and from analysis of affected individuals and their families, a number of inherited diseases and tumor syndromes have been linked to adrenocortical tumorigenesis. These syndromes and diseases include the Carney complex, the McCune-Albright syndrome, multiple endocrine neoplasia type 1, familial adenomatosis coli, congenital adrenal hyperplasia, familial forms of primary aldosteronism, the Beckwith-Wiedemann syndrome, and the Li-Fraumeni syndrome. The key to successful management of these syndromes is identification of patients harboring adrenal tumors within the context of hereditary diseases, since diagnostic procedures, therapy and follow-up may significantly differ from the management of sporadic, isolated adrenal tumors. This review explores the underlying genetic defects, diagnosis and therapy of the major heritable tumor syndromes associated with adrenocortical tumorigenesis.
肾上腺肿块相对常见，包括多种不同的肿瘤类型：单侧或双侧增生、腺瘤以及罕见的肾上腺皮质癌。随着我们对其潜在分子发病机制认识的显著进展，以及对患病个体及其家族的分析，一些遗传性疾病和肿瘤综合征已与肾上腺皮质肿瘤发生相关联。这些综合征和疾病包括卡尼综合征、麦库恩-奥尔布赖特综合征、多发性内分泌腺瘤病1型、家族性腺瘤性息肉病、先天性肾上腺增生、家族性原发性醛固酮增多症、贝克威思-维德曼综合征和李-弗劳梅尼综合征。成功管理这些综合征的关键在于在遗传性疾病背景下识别患有肾上腺肿瘤的患者，因为诊断程序、治疗和随访可能与散发性孤立肾上腺肿瘤的管理有显著差异。本综述探讨了与肾上腺皮质肿瘤发生相关的主要遗传性肿瘤综合征的潜在遗传缺陷、诊断和治疗。
