Adrenocortical tumor in a patient with familial adenomatous polyposis: A case associated with a complete inactivating mutation of the APC gene and unusual histological features

Shigeru Wakatsuki, Hironobu Sasano, Tomoko Matsui, Kazuo Nagashima, Takayoshi Toyota, Akira Horii

研究成果: Article査読

42 被引用数 (Scopus)

抄録

Familial adenomatous polyposis (FAP) is an autosomal dominant hereditary disorder caused by a germline inactivating mutation of the adenomatous polyp coli (apc) gene. Patients with Fap sometimes develop various extracolonic manifestations including adrenocortical neoplasms. We present a 14-year-old boy with Fap who had an adrenocortical tumor with atypical histopathologic features, ie, sex-cord-like differentiation. Immunohistochemical studies of adrenal 4 binding protein (Ad4BP) and steroidogenic enzymes showed the capacity of these tumor cells to produce steroids. Genetic analysis of the tumor disclosed a two-hit mutation in Apc: a germline 5-base pair deletion accompanied by a loss of the normal allele. Because there were no reports of genetic alterations in adrenocortical tumors developed in Fap patients, we examined 10 sporadic adrenal tumors (four carcinomas and six adenomas) for mutations in Apc. However, no mutations were found in these 10 sporadic adrenal tumors. These results suggest that mutation of Apc is also responsible for some fraction of the adrenocortical tumors: the tumor in this case is included.

本文言語English
ページ(範囲)302-306
ページ数5
ジャーナルHuman Pathology
29
3
DOI
出版ステータスPublished - 1998
外部発表はい

ASJC Scopus subject areas

  • 病理学および法医学

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