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一名患有家族性腺瘤性息肉病的男性患者中β-连环蛋白激活型肝腺瘤1例。

A Case of a Beta-Catenin-Activated Hepatic Adenoma in a Male Patient With Familial Adenomatous Polyposis.

作者信息

Kusnik Alexander, Li Shifan, Graziano Elliot, Katerji Roula, Ramaraju Gopal

机构信息

Department of Internal Medicine, Unity Hospital, Rochester, NY.

Department of Internal Medicine, University of Rochester Medical Center, Rochester, NY.

出版信息

ACG Case Rep J. 2023 Mar 16;10(3):e01012. doi: 10.14309/crj.0000000000001012. eCollection 2023 Mar.

DOI:10.14309/crj.0000000000001012
PMID:36936132
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10019209/
Abstract

Hepatocellular adenoma is a benign liver tumor often diagnosed incidentally in women of reproductive age who are taking oral contraceptives. In this study, we present a unique case of an 18-year-old man with known familial adenomatous polyposis who presented with sepsis in the setting of a recent total proctocolectomy and was incidentally found to have multiple large hepatic lesions. A biopsy of a liver lesion confirmed the diagnosis of a beta-catenin-activated hepatic adenoma. To the best of our knowledge, this is the first known case of beta-catenin-activated hepatic adenoma in a patient with a known familial adenomatous polyposis mutation. Beta-catenin is one of the many subtypes of hepatocellular adenomas, which carries a high risk of malignant transformation.

摘要

肝细胞腺瘤是一种良性肝脏肿瘤,常在服用口服避孕药的育龄女性中偶然被诊断出来。在本研究中,我们报告了一例独特病例,一名18岁已知患有家族性腺瘤性息肉病的男性,在近期全直肠结肠切除术后出现败血症,偶然发现有多个大的肝脏病变。肝脏病变活检确诊为β-连环蛋白激活型肝腺瘤。据我们所知,这是已知家族性腺瘤性息肉病突变患者中首例β-连环蛋白激活型肝腺瘤。β-连环蛋白是肝细胞腺瘤的众多亚型之一,具有高恶性转化风险。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/608a/10019209/c50e1cd3581b/ac9-10-e01012-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/608a/10019209/11d17002b33b/ac9-10-e01012-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/608a/10019209/c50e1cd3581b/ac9-10-e01012-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/608a/10019209/11d17002b33b/ac9-10-e01012-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/608a/10019209/c50e1cd3581b/ac9-10-e01012-g002.jpg

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Ann Diagn Pathol. 2021 Dec;55:151833. doi: 10.1016/j.anndiagpath.2021.151833. Epub 2021 Sep 25.
2
Hepatocellular adenoma in men: Is it time for a precision approach?男性肝细胞腺瘤:是时候采取精准治疗方法了吗?
Liver Int. 2021 Oct;41(10):2246-2248. doi: 10.1111/liv.15050.
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Hepatocellular adenoma in men: A nationwide assessment of pathology and correlation with clinical course.
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Liver Int. 2021 Oct;41(10):2474-2484. doi: 10.1111/liv.14989. Epub 2021 Jul 8.
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Pediatr Blood Cancer. 2018 Aug;65(8):e27103. doi: 10.1002/pbc.27103. Epub 2018 May 2.
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Cancer Metastasis Rev. 2018 Mar;37(1):159-172. doi: 10.1007/s10555-017-9725-6.
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Men with biopsy-confirmed hepatocellular adenoma have a high risk of progression to hepatocellular carcinoma: A nationwide population-based study.经活检证实患有肝细胞腺瘤的男性发生肝细胞癌的风险很高:一项全国范围内基于人群的研究。
Liver Int. 2017 Jul;37(7):1042-1046. doi: 10.1111/liv.13423. Epub 2017 Apr 11.
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