論文種別	症例報告
言語種別	英語
査読の有無	査読あり
表題	Cortisol-Producing Oncocytic Adrenocortical Carcinoma Harboring a GNAS Mutation: An Integrated Histologic, Ultrastructural, and Genomic Analysis.
掲載誌名	正式名：Pathology international 略　 称：Pathol Int ISSNコード：14401827/13205463
巻・号・頁	76(4),pp.e70112
著者・共著者	Sato N, Tezuka Y, Itoh T, Omori Y, Koike T, Satou M, Ogata M, Ono Y, Kitada M, Yamazaki Y, Furukawa T, Suzuki T, Nakamura Y
発行年月	2026/04
概要	Oncocytic adrenal neoplasms are rare adrenocortical tumors characterized by abundant eosinophilic cytoplasm due to massive mitochondrial accumulation. Their biological behavior is often difficult to predict, and various diagnostic systems-including the Lin-Weiss-Bisceglia system, the Helsinki score, and the reticulin algorithm-are used to assess their malignant potential. We report a case of an oncocytic adrenocortical carcinoma associated with Cushing's syndrome and hyperandrogenemia in a 34-year-old woman. Histologically, the tumor showed diffuse growth of eosinophilic cells with marked pleomorphism and focal capsular invasion. Immunohistochemistry confirmed adrenocortical origin and cortisol production, with a Ki-67 labeling index of 25%. Ultrastructural examination revealed densely packed mitochondria with lamellar and tubulovesicular cristae, accompanied by numerous whorled smooth endoplasmic reticulum formations, suggesting active remodeling of the endoplasmic reticulum. Whole-exome sequencing identified a pathogenic GNAS R201S mutation, together with copy number losses of ARID1A, CDKN2A, and ZNRF3 with widespread copy number alteration. Despite multiple adverse prognostic indicators, the patient has remained disease-free for over 5 years following adrenalectomy and adjuvant low-dose mitotane therapy. These findings suggest that GNAS activation may drive steroidogenesis while attenuating malignant progression, as demonstrated by integrated morphologic and genomic assessment in this case.
DOI	10.1111/pin.70112
PMID	41936040