Genomic Sequencing in Oncocytic Adrenal Carcinoma May Provide Insights into Disease Progression and Treatment Options

嗜酸性肾上腺癌的基因组测序或可为疾病进展和治疗方案提供新的见解

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Abstract

Oncocytic adrenal carcinoma (OAC) is a rare histologic subtype of adrenal cortical carcinoma (ACC) characterized by >90% oncocytic cells. Unlike ACC, OACs have a reduced incidence of adrenal hormone production, larger size, and longer time to recurrence (17.5 months vs 8 months). Genetic mutations in CTNNB1 are associated with decreased survival in ACC but their role in OAC is unknown. Here, we present a case of OAC highlighting the importance of comprehensive genomic profiling in predicting time to recurrence. A 72-year-old woman presented with rapidly progressive muscle weakness, new-onset type 2 diabetes mellitus, resistant hypertension associated with hypokalemia, and profound cognitive decline. Hormonal evaluation was consistent with ACTH-independent Cushing syndrome. A computed tomography scan of the abdomen showed a 7.1-cm heterogenous left adrenal mass. Pathology confirmed OAC after an en bloc left adrenalectomy. Next-generation sequencing revealed somatic mutations in CTNNB1, CDKN2A, and CDKN2B. Disease progression at 5 months after left adrenalectomy was comparable to other histopathological types of ACC, emphasizing the impact of genomic alterations in OAC.

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