Tubulopapillary adrenocortical adenoma in a patient with familial adenomatous polyposis: a morphologic, ultrastructural, and molecular study. Hum Pathol 2019 May;87:51-56
Date
09/03/2018Pubmed ID
30172912DOI
10.1016/j.humpath.2018.08.022Scopus ID
2-s2.0-85063968209 (requires institutional sign-in at Scopus site)Abstract
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.
Author List
Huang H, Chang J, Rosati S, Geurts J, Mackinnon ACAuthor
Jennifer L. Geurts MS, CGC Director, Assistant Professor in the Institute for Health and Equity department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
Adenomatous Polyposis ColiAdenomatous Polyposis Coli Protein
Adrenal Cortex Neoplasms
Adrenocortical Adenoma
Adult
Female
Genes, APC
Humans
Loss of Heterozygosity
Mutation