一例儿童醛固酮和皮质醇共分泌肾上腺瘤的临床表现及全外显子测序分析  

Whole-exome sequencing from a case of pediatric aldosterone-and cortisol-coproducing adrenal adenoma

作　　者：王慧萍 文进[3] 崔云英 马晓森 任卫东[1] 童安莉 WANG Hui-ping;WEN Jin;CUI Yun-ying;MA Xiao-sen;REN Wei-dong;TONG An-li(Graduate School, Hebei North University,Zhangjiakou 075000;Department of Endocrinology, Key Laboratory of Endocrinology of National Health Commission;Department of Urology, Peking Union Medical College Hospital, CAMS & PUMC,Beijing 100730, China)

机构地区：[1]河北北方学院研究生院,河北张家口075000 [2]中国医学科学院北京协和医学院北京协和医院,内分泌科国家卫生健康委员会内分泌重点实验室,北京100730 [3]中国医学科学院北京协和医学院北京协和医院泌尿外科,北京100730

出　　处：《基础医学与临床》2021年第3期352-357,共6页Basic and Clinical Medicine

基　　金：国家自然科学基金(81770427,82070822);中国医学科学院医学与健康科技创新工程项目(2017-12M-1-001)。

摘　　要：目的对1例儿童醛固酮和皮质醇共分泌瘤患者行全外显子测序,探讨其可能的发病机制。方法收集此例共分泌肾上腺皮质腺瘤患者有关临床资料;提取患者肿瘤组织DNA及外周血DNA,进行全外显子测序,分析胚系及体系突变。结果患者为13岁男孩,因高血压和低血钾就诊;根据临床表现和激素检测的结果,诊断为原发性醛固酮增多症合并亚临床库欣综合征;CT发现右肾上腺4.5 cm×3.6 cm占位,手术病理证实为肾上腺皮质腺瘤。在患者肿瘤组织中发现醛固酮合成酶CTNNB1 c.133T>C(p.S45P)位点突变。未发现KCNJ5、ATP1A1、ATP2B3和CACNA1D等基因突变。结论此例罕见的儿童醛固酮和皮质醇共分泌肾上腺皮质腺瘤的发生与CTNNB1突变有关,但具体机制仍需要进一步研究。Objective To identify the genetic mutations of aldosterone-and cortisol-coproducing adrenal adenoma in a young boy by whole-exome sequencing.Methods The clinical data of a boy with aldosterone-and cortisol-coproducing adrenal adenoma were collected.Whole-exome sequencing was performed with DNA extracted from the blood and tumor tissue to identify germline and somatic mutations.Results A 13-year-old boy with hypertension and hypokalemia was diagnosed as primary aldosteronism complicated with sub-clinical Cushing's syndrome diagnosed by clinical manifestations and adrenal hormone testing.CT scan found a 4.5 cm×3.6 cm mass in right adrenal gland.The mass was surgically removed and adenoma was proved by pathologic microscopy.A somatic CTNNB1 c.133T>C(p.S45P)mutation was detected in the adenoma tissue.Somatic mutations,such as KCNJ5,ATP1A1,ATP2B3 and CACNA1D were not detected.Conclusions Somatic CTNNB1 mutation is probably the main cause of this rare disease characterized by aldosterone-and cortisol-coproducing adrenal adenoma.But the profound mechanism needs further study.

关 键 词：醛固酮和皮质醇共分泌肾上腺皮质腺瘤 全外显子测序 质谱分析(LC-MS) 

分 类 号：R586.9[医药卫生—内分泌]