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oai:figshare.com:article/33985474 2026-09-24T12:39:06Z category_393 portal_316 item_type_3 month_year_09_2026

Table 3_Case Report: Somatic GNAS and CACNA1D mutations responsible for adrenal cortisol-producing adenoma with multiple aldosterone-producing micronodules—concurrence of primary aldosteronism and mild autonomous cortisol secretion.docx Lingna Deng (7571411) Yinchun Jin (25104010) Yihan Dong (16945478) Li Jiang (120930) Zhongyu Wang (171066) Haimin Xu (11175270) Jing Xie (180526) Foetal Development and Medicine adrenal cortical Cushing’s tumor CACNA1D GNAS multiple aldosterone-producing micronodules next-generation sequencing Background<p>The concurrent presence of primary aldosteronism (PA) and mild autonomous cortisol secretion (MACS) caused by adrenal lesions of a solitary cortisol-producing adenoma, accompanied by multiple aldosterone-producing micronodules (MAPM), is exceptionally rare. Moreover, there is a notable paucity of data regarding the molecular pathogenesis of this disease.</p>Case presentation<p>We report a unique case of a somatic GNAS/CACNA1D-mutant cortisol-producing adenoma accompanied by MAPM and an aldosterone-producing nodule (APN) in the adjacent adrenal cortex. The patient was a 63-year-old woman with a 25-year history of hypertension and had a mass in the right adrenal gland. Detailed endocrine examinations revealed the concomitant occurrence of PA and MACS. Histologically, the main tumor was a well-circumscribed, encapsulated mass composed of neoplastic cells arranged in trabecular and nested patterns, exhibiting eosinophilic to vacuolated cytoplasm with uniformly round nuclei. Adjacent to the main tumor, a histologically similar 0.4 cm cortical nodule rich in clear cells was observed. Immunohistochemical analysis revealed diffuse CYP11B1 staining in the main tumor, whereas adjacent scattered cortical cell clusters and nodules exhibited distinctively diffuse CYP11B2 positivity. Next-generation sequencing results revealed missense mutations in the GNAS (p.R201H) and CACNA1D genes (p.F1131L).</p>Conclusion<p>Our molecular findings from bulk tissue analysis identified somatic mutations in the GNAS and CACNA1D genes. Although the lack of microdissection precludes definitively assigning each variant to a specific pathological component, we hypothesize that these mutations may serve as key drivers for concurrent PA and MACS associated with cortisol-producing adenoma and adjacent MAPM/APN. Furthermore, our data support the emerging concept that primary aldosteronism can originate from MAPM rather than just from conventional adrenal cortical adenomas.</p> 2026-09-24T12:39:06Z Dataset Dataset 10.3389/fmed.2026.1949358.s004 https://figshare.com/articles/dataset/Table_3_Case_Report_Somatic_GNAS_and_CACNA1D_mutations_responsible_for_adrenal_cortisol-producing_adenoma_with_multiple_aldosterone-producing_micronodules_concurrence_of_primary_aldosteronism_and_mild_autonomous_cortisol_secretion_docx/33985474 CC BY 4.0