基础医学与临床 ›› 2021, Vol. 41 ›› Issue (3): 352-357.

• 研究论文 • 上一篇    下一篇

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

王慧萍1,文进2,崔云英3,马晓森4,任卫东5,童安莉6   

  1. 1. 1.中国医学科学院北京协和医院内分泌科卫生部内分泌重点实验室 2.河北北方学院研究生院
    2. 中国医学科学院北京协和医院
    3. 北京协和医院内分泌科
    4. 中国医学科学院北京协和医院内分泌科卫生部内分泌重点实验室
    5. 河北北方学院附属第一医院
    6. 中国医学科学院北京协和医学院北京协和医院内分泌科 卫生部内分泌重点实验室
  • 收稿日期:2020-10-26 修回日期:2020-12-24 出版日期:2021-03-05 发布日期:2021-03-01
  • 通讯作者: 童安莉 E-mail:tonganli@hotmail.com
  • 基金资助:
    国家自然科学基金面上项目;国家自然科学基金面上项目;中国医学科学院医学与健康科技创新工程项目

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

  • Received:2020-10-26 Revised:2020-12-24 Online:2021-03-05 Published:2021-03-01
  • Contact: TONG An-li E-mail:tonganli@hotmail.com

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4.5cm×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CTNNB1 c.133T>C (p.S45P) 基因突变。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。

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

Abstract: Objective To identify the genetic mutations of aldosterone- and cortisol-coproducing adrenal adenoma from 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 subclinical Cushing's syndrome according to clinical manifestations and adrenal hormone testing. CT scan found a 4.5cm ×3.6 cm mass in right adrenal gland. The mass was removed and pathologically diagnosed as adrenocortical adenoma. 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 case with aldosterone- and cortisol-coproducing adrenal adenoma. But the profound mechanism needs further study.

Key words: aldosterone- and cortisol-coproducing adrenal adenoma, whole-exome sequencing, LC-MS