Ettaieb Madeleine, Kerkhofs Thomas, van Engeland Manon, Haak Harm
Department of Internal Medicine, Division of Endocrinology, Maxima Medical Center, 5631 Eindhoven/Veldhoven, The Netherlands.
Department of Internal Medicine, Division of Medical Oncology, Maastricht University Medical Center, 6229 Maastricht, The Netherlands.
Cancers (Basel). 2020 May 13;12(5):1218. doi: 10.3390/cancers12051218.
DNA methylation profiling has been suggested a reliable technique to distinguish between benign and malignant adrenocortical tumors, a process which with current diagnostic methods remains challenging and lacks diagnostic accuracy of borderline tumors. Accurate distinction between benign and malignant adrenal tumors is of the essence, since ACC is a rare but aggressive endocrine disease with an annual incidence of about 2.0 cases per million people per year. The estimated five-year overall survival rate for ACC patients is <50%. However, available treatment regimens are limited, in which a radical surgical resection is the only curable option. Nevertheless, up to 85% of patients with radical resection show recurrence of the local disease often with concurrent metastases. Adrenolytic therapy with mitotane, administered alone or in combination with cytotoxic agents, is currently the primary (palliative) treatment for patients with advanced ACC and is increasingly used in adjuvant setting to prevent recurrence. Prognostic stratification is important in order to individualize adjuvant therapies. On April 1, 2020, there were 7404 publications on adrenocortical carcinoma (adrenocortical carcinoma) OR adrenocortical carcinoma [MeSH Terms]) OR adrenal cortex cancer[MeSH Terms]) OR adrenal cortical carcinoma [MeSH Terms]) OR adrenal cortex neoplasm [MeSH Terms]) OR adrenocortical cancer [MeSH Terms]), yet the underlying pathophysiology and characteristics of ACC is not fully understood. Knowledge on epigenetic alterations in the process of adrenal tumorigenesis is rapidly increasing and will add to a better understanding of the pathogenesis of ACC. DNA methylation profiling has been heralded as a promising method in the prognostication of ACC. This review summarizes recent findings on epigenetics of ACC and its role in diagnosis, prognosis and therapeutic strategies.
DNA甲基化谱分析已被认为是一种区分肾上腺皮质良性和恶性肿瘤的可靠技术，而目前的诊断方法在这一过程中仍具有挑战性，且对临界肿瘤缺乏诊断准确性。准确区分肾上腺良性和恶性肿瘤至关重要，因为肾上腺皮质癌（ACC）是一种罕见但侵袭性强的内分泌疾病，年发病率约为每百万人每年2.0例。ACC患者的估计五年总生存率<50%。然而，可用的治疗方案有限，其中根治性手术切除是唯一可治愈的选择。尽管如此，高达85%接受根治性切除的患者会出现局部疾病复发，且常伴有转移。米托坦单独或与细胞毒性药物联合进行的肾上腺溶解疗法，是目前晚期ACC患者的主要（姑息）治疗方法，并越来越多地用于辅助治疗以预防复发。预后分层对于个体化辅助治疗很重要。2020年4月1日，关于肾上腺皮质癌（肾上腺皮质癌或肾上腺皮质癌[医学主题词]）或肾上腺皮质癌[医学主题词]）或肾上腺皮质癌[医学主题词]）或肾上腺皮质肿瘤[医学主题词]）或肾上腺皮质癌[医学主题词]）有7404篇出版物，但ACC的潜在病理生理学和特征尚未完全了解。关于肾上腺肿瘤发生过程中表观遗传改变的知识正在迅速增加，这将有助于更好地理解ACC的发病机制。DNA甲基化谱分析已被誉为ACC预后评估的一种有前景的方法。本综述总结了ACC表观遗传学的最新发现及其在诊断、预后和治疗策略中的作用。
