Omata Kei, Tomlins Scott A, Rainey William E
Department of Pathology, University of Michigan, Ann Arbor, MI, USA.
Division of Nephrology, Endocrinology and Vascular Medicine, Tohoku University, Aoba-ku, Sendai, Miyagi, Japan.
Horm Metab Res. 2017 Dec;49(12):951-956. doi: 10.1055/s-0043-122394. Epub 2017 Dec 4.
Primary aldosteronism (PA) significantly increases the risk of cardiovascular complications, and early diagnosis and targeted treatment based on its pathophysiology is warranted. Next-generation sequencing (NGS) has revealed recurrent somatic mutations in aldosterone-driving genes in aldosterone-producing adenoma (APA). By applying CYP11B2 (aldosterone synthase) immunohistochemistry and NGS to adrenal glands from normal subjects and PA patients, we and others have shown that CYP11B2-positive cells make small clusters, termed aldosterone-producing cell clusters (APCC), beneath the adrenal capsule, and that APCC harbor somatic mutations in genes mutated in APA. We have shown that APCC are increased in CT-negative PA adrenals, while others showed potential progression from APCC to micro APA through mutations. These results suggest that APCC are a key factor for understanding the origin of PA, and further investigation on the relation between APCC and PA is highly needed.
原发性醛固酮增多症(PA)显著增加心血管并发症的风险,因此有必要基于其病理生理学进行早期诊断和靶向治疗。下一代测序(NGS)已揭示醛固酮分泌性腺瘤(APA)中醛固酮驱动基因的复发性体细胞突变。通过对正常受试者和PA患者的肾上腺应用CYP11B2(醛固酮合酶)免疫组织化学和NGS,我们和其他人已经表明,CYP11B2阳性细胞在肾上腺被膜下形成小簇,称为醛固酮分泌细胞簇(APCC),并且APCC在APA中发生突变的基因中存在体细胞突变。我们已经表明,CT阴性PA肾上腺中的APCC增加,而其他人则表明APCC可能通过突变发展为微小APA。这些结果表明,APCC是理解PA起源的关键因素,因此非常需要进一步研究APCC与PA之间的关系。