Genetic and histopathologic intertumor heterogeneity in primary aldosteronism

Kei Omata, Yuto Yamazaki, Yasuhiro Nakamura, Sharath K. Anand, Justine A. Barletta, Hironobu Sasano, William E. Rainey, Scott A. Tomlins, Anand Vaidya

Research output: Contribution to journalArticlepeer-review

14 Citations (Scopus)

Abstract

Context: Whether primary aldosteronism (PA) is the consequence of a monoclonal or multiclonal process is unclear. Case Description: A 48-year-old man with severe bilateral PA refractory to medical therapy underwent unilateral adrenalectomy of the dominant adrenal. Although computed tomography showed three left-sided cortical nodules, postsurgical histopathology and genetic analysis revealed five different adrenocortical adenomas. Two zona fasciculata (ZF)-like aldosterone-producing adenomas (APAs) each harbored distinct known somatic KCNJ5 mutations (L168R and T158A). A zona glomerulosa-like APA harbored a known CACNA1D G403R somatic mutation, whereas a zona reticularis-like adenoma, which was grossly black in pigmentation with histologic characteristics more associated with cortisol-producing adenomas, expressed CYP11B2, CYP17, and DHEA-ST by immunohistochemistry (IHC) and harbored no known somatic mutations. The fifth adenoma was ZF-type, negative for CYP11B2 and CYP17 IHC, and harbored no known somatic mutations. Conclusions: This case highlights complex intertumor heterogeneity in histology, steroidogenesis, and somatic mutations in multiple adrenocortical adenomas arising in a single patient with PA. These findings suggest that the syndrome of PA can involve heterogeneous and multiclonal functional adrenal adenomas.

Original languageEnglish
Pages (from-to)1792-1796
Number of pages5
JournalJournal of Clinical Endocrinology and Metabolism
Volume102
Issue number6
DOIs
Publication statusPublished - 2017 Jun 1

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Endocrinology
  • Clinical Biochemistry
  • Biochemistry, medical

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