在散发的醛固酮瘤中鉴定到 CLCN2 的体细胞突变。
A somatic mutation in CLCN2 identified in a sporadic aldosterone-producing adenoma.
机构信息
Department of Clinical and Experimental Medicine, Faculty of Health Sciences, Linköping University, Linköping, Sweden.
Department of Surgery, Haukeland University Hospital, Bergen, Norway.
出版信息
Eur J Endocrinol. 2019 Nov;181(5):K37-K41. doi: 10.1530/EJE-19-0377.
OBJECTIVE
To screen for CLCN2 mutations in apparently sporadic cases of aldosterone-producing adenomas (APAs).
DESCRIPTION
Recently, CLCN2, encoding for the voltage-gated chloride channel protein 2 (ClC-2), was identified to be mutated in familial hyperaldosteronism II (FH II). So far, somatic mutations in CLCN2 have not been reported in sporadic cases of APAs. We screened 80 apparently sporadic APAs for mutations in CLCN2. One somatic mutation was identified at p.Gly24Asp in CLCN2. The male patient had a small adenoma in size but high aldosterone levels preoperatively. Postoperatively, the patient had normal aldosterone levels and was clinically cured.
CONCLUSION
In this study, we identified a CLCN2 mutation in a sporadic APA comprising about 1% of all APAs investigated. This mutation was complementary to mutations in other susceptibility genes for sporadic APAs and may thus be a driving mutation in APA formation.
目的
在非家族性醛固酮分泌腺瘤（APA）的散发病例中筛选 CLCN2 突变。
描述
最近，CLCN2 （编码电压门控氯离子通道蛋白 2（ClC-2））被鉴定为家族性醛固酮增多症 II 型（FH II）的突变基因。到目前为止，CLCN2 的体细胞突变尚未在 APA 的散发病例中报道。我们筛选了 80 例非家族性 APA 的 CLCN2 突变。在 CLCN2 中发现了 p.Gly24Asp 的一个体细胞突变。该男性患者术前腺瘤较小但醛固酮水平较高。术后，患者的醛固酮水平恢复正常，临床治愈。
结论
在这项研究中，我们在一个散发性 APA 中鉴定出了 CLCN2 突变，该突变约占所有研究的 APA 的 1%。该突变与其他散发性 APA 的易感基因的突变互补，因此可能是 APA 形成的驱动突变。
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