Coexistence of Five Histopathologically and Genetically Distinct Adrenocortical Adenomas in a Patient with Primary Aldosteronism

Presentation Number: SAT 374
Date of Presentation: April 1st, 2017

Kei Omata*1, Yuto Yamazaki2, Yasuhiro Nakamura3, Sharath Anand4, Justine Barletta5, Scott A Tomlins1, Hironobu Sasano2, William E. Rainey1 and Anand Vaidya5
1University of Michigan, Ann Arbor, MI, 2Tohoku University Graduate School of Medicine, Sendai, Japan, 3Tohoku Medical and Pharmaceutical University, Sendai, Japan, 4University of Michigan, 5Brigham and Women's Hospital, Harvard Medical School, Boston, MA


Context. Whether primary aldosteronism (PA) is the consequence of a monoclonal or multiclonal neoplastic 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 adenomas, 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 a so-called black adenoma (pigmented appearance) 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 tumor was ZF-type, negative for CYP11B2 and CYP17 IHC, and harbored no known somatic mutations.

Conclusions. This case highlights complex intra-patient heterogeneity in histology, steroidogenesis and somatic mutations in multiple adrenocortical adenomas arising in a patient with PA. The extent of multiclonal adenoma involvement in PA, including apparent unifcoal tumors by morphology, warrants additional study.


Disclosure: SAT: Principal Investigator, Thermo Fisher Scientific, Speaker, Thermo Fisher Scientific. Nothing to Disclose: KO, YY, YN, SA, JB, HS, WER, AV