Department of Oncology, St. Jude Children's Research Hospital, Memphis, TN 38105-3678, USA.
Best Pract Res Clin Endocrinol Metab. 2010 Jun;24(3):477-90. doi: 10.1016/j.beem.2010.03.002.
The incidence of adrenocortical tumors (ACTs) is increased in several familial cancer syndromes resulting from abnormalities in genes that encode transcription factors implicated in cell proliferation, differentiation, senescence, apoptosis, and genomic instability. These include P53, MEN1, APC, and PRKAR1A. Adenomas are the most common ACTs, but adrenocortical carcinomas occur rarely as well. The clinical manifestations of ACTs, which result from increased secretion of adrenocortical hormones, are similar in the familial and sporadic forms of the disease. However, their management may differ because of unique aspects of the constitutional syndromes. The analysis of gene expression profiles of ACTs in these constitutional syndromes have contributed to our understanding of adrenal tumorigenesis and revealed new molecular diagnostic and prognostic markers and candidate genes for targeted therapies. This chapter summarizes the clinical and biological features, pathogenesis, and management strategies for ACTs that develop in patients with familial cancer syndrome.
肾上腺皮质肿瘤 (ACTs) 的发病率在几种家族性癌症综合征中增加，这些综合征是由于编码转录因子的基因异常引起的，这些转录因子参与细胞增殖、分化、衰老、凋亡和基因组不稳定性。这些基因包括 P53、MEN1、APC 和 PRKAR1A。腺瘤是最常见的 ACTs，但也很少发生肾上腺皮质癌。ACTs 的临床表现是由于肾上腺皮质激素分泌增加所致，在家族性和散发性疾病中相似。然而，由于综合征的独特方面，其治疗可能有所不同。对这些遗传性综合征中 ACTs 的基因表达谱的分析有助于我们了解肾上腺肿瘤的发生机制，并揭示了新的分子诊断和预后标志物以及针对特定治疗的候选基因。本章总结了发生在家族性癌症综合征患者中的 ACTs 的临床和生物学特征、发病机制和治疗策略。
