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Japanese Journal of Clinical Oncology Advance Access published online on August 14, 2009
Japanese Journal of Clinical Oncology, doi:10.1093/jjco/hyp093
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© The Author (2009). Published by Oxford University Press. All rights reserved

Biallelic APC Inactivation Was Responsible for Functional Adrenocortical Adenoma in Familial Adenomatous Polyposis with Novel Germline Mutation of the APC Gene: Report of a Case

Hisahiro Hosogi1,{dagger}, Satoshi Nagayama1{dagger}, Naotetsu Kanamoto2, Akihiko Yoshizawa3, Takashi Suzuki4, Kazuwa Nakao2 and Yoshiharu Sakai1

1 Department of Surgery, Graduate School of Medicine, Kyoto University
2 Department of Medicine and Clinical Science, Graduate School of Medicine, Kyoto University
3 Department of Diagnostic Pathology, Kyoto University Hospital, Kyoto
4 Department of Pathology, Graduate School of Medicine, Tohoku University, Sendai, Japan

For reprints and all correspondence: Satoshi Nagayama, Department of Surgery, Graduate School of Medicine, Kyoto University, 54 Kawaharacho, Shogoin, Sakyo-ku, Kyoto 606-8507, Japan. E-mail: nagayama{at}kuhp.kyoto-u.ac.jp

Received February 2, 2009; accepted July 12, 2009

Familial adenomatous polyposis (FAP) patients develop various extracolonic lesions, among which functional adrenocortical neoplasms are infrequent. A 44-year-old woman was hospitalized because of pseudo-Meigs' syndrome, caused by bilateral ovarian metastases from an advanced ascending colon cancer due to FAP of intermediate type. Furthermore, bilateral adrenocortical adenomas were detected, and functional analyses showed a hormonal secretion pattern consistent with Cushing's syndrome. She underwent a right hemicolectomy with extirpation of bilateral ovaries. At 10 months post-operative with no detectable metastatic lesions, the residual colorectum and the larger, left adrenal gland were resected, and the hormonal hypersecretion was normalized. Direct sequencing of the adenomatous polyposis coli (APC) gene revealed a nonsense germline mutation at codon 1577 and an additional nonsense somatic mutation at codon 554 in cancer tissues. Biallelic APC inactivation due to loss of the normal allele was evident in the adrenocortical adenoma. There were no hypermethylated CpG islands detected in APC promoter regions. Immunostaining for β-catenin revealed diffuse cytoplasmic expression in resected tissues including adrenocortical adenoma. Biallelic APC inactivation may play a role in developing cortisol-secreting adrenocortical adenoma in FAP patients. It is noteworthy that biallelic APC inactivation was caused in different ways in different tumors from the same individual.

Key Words: APC • adrenocortical adenoma • Cushing's syndrome

{dagger} These authors contributed equally to this work.


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