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伴有肝细胞核因子-1α(HNF-1α)突变的肝细胞腺瘤:一例报告

Hepatocellular Adenoma With Hepatocyte Nuclear Factor-1 Alpha (HNF-1α) Mutation: A Case Report.

作者信息

Moliya Pratiksha, Al-Obaidi Hasan, Harb Hussein, Moliya Utsav, Asit Mehta

机构信息

Internal Medicine, Jamaica Hospital Medical Center, New York, USA.

Basic Sciences, Ross University School of Medicine, Bridgetown, BRB.

出版信息

Cureus. 2024 Jul 7;16(7):e64017. doi: 10.7759/cureus.64017. eCollection 2024 Jul.

DOI:10.7759/cureus.64017
PMID:39109134
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11302410/
Abstract

Hepatocellular adenoma (HCA) is an uncommon benign liver tumor that exhibits a variety of subtypes, each distinguished by unique molecular alterations. This case report describes a 43-year-old man with a history of alcoholism who presented with stomach pain. Imaging revealed multiple hepatic lesions and sigmoid colon inflammation, while laboratory tests showed mild neutrophilic leukocytosis and elevated liver enzymes. Tumor markers were normal. A liver biopsy confirmed HCA with hepatocyte nuclear factor-1 alpha (HNF-1α) inactivation, characterized by negative immunostaining for glutamine synthetase, nuclear beta-catenin, serum amyloid A, C-reactive protein, and liver fatty acid-binding protein (L-FABP). This case is unique due to the patient's gender and the absence of typical risk factors such as abnormal hormone levels. HCAs in males, particularly with HNF-1α inactivation, are rare and pose diagnostic challenges. Comprehensive diagnostic approaches, including biopsy and immunohistochemical analysis, are crucial for accurate subtype identification. The potential for malignant transformation, particularly in male patients, underscores the need for vigilant monitoring and appropriate management. This case highlights the importance of considering HCA in differential diagnoses regardless of gender and typical risk factors, contributing valuable insights into the diverse presentations and risks associated with HCA, and emphasizing the need for awareness and further research to improve diagnosis and management of this rare condition.

摘要

肝细胞腺瘤(HCA)是一种罕见的肝脏良性肿瘤,具有多种亚型,每种亚型都有独特的分子改变。本病例报告描述了一名有酗酒史的43岁男性,他因胃痛就诊。影像学检查发现多个肝脏病变和乙状结肠炎症,而实验室检查显示轻度中性粒细胞增多和肝酶升高。肿瘤标志物正常。肝脏活检证实为HCA伴肝细胞核因子-1α(HNF-1α)失活,其特征为谷氨酰胺合成酶、细胞核β-连环蛋白、血清淀粉样蛋白A、C反应蛋白和肝脂肪酸结合蛋白(L-FABP)免疫染色阴性。该病例因患者性别及缺乏如激素水平异常等典型危险因素而独特。男性的HCA,尤其是伴有HNF-1α失活的情况,较为罕见且带来诊断挑战。包括活检和免疫组化分析在内的综合诊断方法对于准确识别亚型至关重要。恶性转化的可能性,尤其是在男性患者中,凸显了进行密切监测和适当管理的必要性。本病例强调了在鉴别诊断中无论性别和典型危险因素都应考虑HCA的重要性,为与HCA相关的多样表现和风险提供了有价值的见解,并强调了提高对这种罕见疾病的认识和进一步研究以改善诊断和管理的必要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9781/11302410/e3997fdba628/cureus-0016-00000064017-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9781/11302410/e3997fdba628/cureus-0016-00000064017-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9781/11302410/e3997fdba628/cureus-0016-00000064017-i01.jpg

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Hepatic adenoma in a 7-year-old girl: a case report and literature review.7 岁女孩肝腺瘤 1 例报告并文献复习
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Hepatocellular adenoma: Where are we now?肝细胞腺瘤:我们现在在哪里?
World J Gastroenterol. 2022 Apr 14;28(14):1384-1393. doi: 10.3748/wjg.v28.i14.1384.
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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。
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Inflammatory hepatocellular adenomas developed in the setting of chronic liver disease and cirrhosis.炎症性肝细胞腺瘤在慢性肝病和肝硬化的背景下发生。
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