Genetic and Histopathologic Inter-Tumor Heterogeneity in Primary Aldosteronism.

Genetic and Histopathologic Inter-Tumor Heterogeneity in Primary Aldosteronism.

J Clin Endocrinol Metab. 2017 Mar 24;:

Authors: Omata K, Yamazaki Y, Nakamura Y, Anand SK, Barletta JA, Sasano H, Rainey WE, Tomlins SA, Vaidya A

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 (CT) showed three left-sided cortical nodules, post-surgical 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 (ZG)-like APA harbored a known CACNA1D G403R somatic mutation, while a zona reticularis (ZR)-like adenoma, which was grossly black in pigmentation with histologic characteristics more associated 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 inter-tumor 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 multi-clonal functional adrenal adenomas.

PMID: 28368480 [PubMed - as supplied by publisher]

http://ift.tt/2oE2Tba