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Hepatocellular adenoma associated with familial adenomatous polyposis coli

World Journal of Hepatology 2012年第11期4卷 322-326页

作者： Keisuke Inaba Takanori Sakaguchi Kiyotaka Kurachi Hiroki Mori Toshio Nakamura yasuo takehara Satoshi Baba Masato Maekawa Haruhiko Sugimura Hiroyuki Konno Second Department of Surgery Hamamatsu University School of Medicine Hama-matsu 431-3192 Japan Department of Surgery Iwata City Hospital Iwata 438-8500 Japan Department of Pathology Hamamatsu University School of Medicine Hamamatsu 431-3192 Japan Department of Radiology Hamamatsu University School of Medicine Hamamatsu 431-3192 Japan Department of Laboratory Medicine Hamamatsu University School of Medicine Hamamatsu 431-3192 Japan

Hepatocellular adenoma (HCA) is a benign liver tumor that most frequently occurs in young women using oral contraceptives. We report a rare case of HCA in a 29 years old female with familial adenomatous polyposis (FAP). The first proband was her sister, who under-went a total colectomy and was genetically diagnosed as FAP. A tumor, 3.0 cm in diameter, was detected in the right lobe of the liver during a screening study for FAP. A colonoscopy and gastroendoscopy revealed numerous adenomatous polyps without carcinoma. The patient underwent a total colectomy and ileoanal anastomosis and hepatic posterior sectoriectomy. The pathological findings of the liver tumor were compatible with HCA. The resected specimen of the colon revealed multiple colonic adenomatous polyps. Examination of genetic alteration revealed a germ-line mutation of the adenomatous polyposis coli (APC) gene. Inactivation of the second APC allele was not found. Other genetic alterations in the hepatocyte nuclear factor 1 alpha and β-catenin gene, which are reported to be associated with HCA, were not detected. Although FAP is reported to be complicated with various neoplasias in extracolic organs, only six cases of HCA associated with FAP, including the present case, have been reported. Additional reports will establish the precise mechanisms of HCA development in FAP patients.

关键词： Hepatic adenoma Familial adenomatous polyposis coli Extrahepatic manifestation Adenomatous polyposis coli gene Hepatocyte nuclear factor 1 alpha

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