Patients with familial adenomatous polyposis have a higher incidence for developing adrenal neoplasms, most of which are nonfunctioning with conventional histologic appearance. We report a patient with a history of multiple colon polyps who developed an adrenocortical adenoma with unusual morphology. The tumor showed a tubulopapillary architecture and plasmacytoid cytomorphology that were distinct from conventional adrenocortical adenomas. β-Catenin stain showed aberrant nuclear positivity in the tumor, suggesting an altered β-catenin-related pathway. The unusual morphology prompted molecular characterization, and sequencing demonstrated the patient to be germline heterozygous for a 5-base-pair APC deletion at codon 1309 with loss of heterozygosity in the tumor. Our study provides further evidence of genetic predisposition to extraintestinal tumors in the familial adenomatous polyposis population.
Keywords: APC gene; Adrenocortical adenoma; Familial adenomatous polyposis; Tubulopapillary adenoma.
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