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标题: 良性肝肿瘤:了解分子生理学以适应临床管理 [打印本页]

作者: StephenW    时间: 2022-10-27 20:03     标题: 良性肝肿瘤:了解分子生理学以适应临床管理

良性肝肿瘤:了解分子生理学以适应临床管理

    Jean-Charles Nault、Valérie Paradis、Maxime Ronot 和 Jessica Zucman-Rossi

Nature Reviews Gastroenterology & Hepatology 第 19 卷,第 703–716 页(2022 年)引用这篇文章

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抽象的

对不同良性肝结节病理生理学认识的改进完善了它们的分类学分类。使用影像学、组织学和分子分析确定了新的标准,用于精确诊断这些肿瘤。肝脏肿瘤分类的改进为疾病进展提供了更准确的预测,并改进了患者管理。血管瘤和局灶性结节性增生是在没有慢性肝病的情况下发生的最常见的良性肝肿瘤,通常在影像学上很容易诊断,不需要特殊治疗。然而,肝细胞腺瘤和肝硬化大结节很难与肝细胞癌区分开来。 HNF1A 失活、外显子 3 或外显子 7/8 中的 β-连环蛋白突变以及炎症或 Hedgehog 通路的激活所定义的五个主要亚组中肝细胞腺瘤的分子亚型有助于识别具有恶性转化或出血风险的肿瘤。新的临床、生物和分子工具已逐渐被纳入诊断和治疗算法,以对良性肝肿瘤进行分类并改善患者管理。本综述旨在解释良性肝肿瘤的主要致病机制以及这些知识如何影响临床实践。
关键点

    肝血管瘤 (HH) 和局灶性结节性增生 (FNH) 是常见的与避孕无关的良性肝肿瘤,即使某些 FNH 需要活检才能确诊,它们也大多在影像学检查中被诊断出来。

    由于没有并发症,FNH 和 HH 不需要任何治疗。

    肝细胞腺瘤多发生于服用雌激素避孕的年轻女性(20-50 岁),可能并发肿瘤出血或恶性转化为肝细胞癌。

    肝细胞腺瘤分为分子亚组:HNF1A 失活、炎症、外显子 3 中的 CTNNB1 突变(转化风险高)、外显子 7/8 中的 CTNNB1 突变和 Sonic Hedgehog 激活(出血风险高)。

    低级别和高级别不典型增生结节是在肝硬化中发展的癌前病变,可通过获得 TERT 启动子中的体细胞突变而发展为肝细胞癌。
作者: StephenW    时间: 2022-10-27 20:04

Benign liver tumours: understanding molecular physiology to adapt clinical management

    Jean-Charles Nault, Valérie Paradis, Maxime Ronot & Jessica Zucman-Rossi

Nature Reviews Gastroenterology & Hepatology volume 19, pages 703–716 (2022)Cite this article

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Abstract

Improvements in understanding the pathophysiology of the different benign liver nodules have refined their nosological classification. New criteria have been identified using imaging, histology and molecular analyses for a precise diagnosis of these tumours. Improvement in the classification of liver tumours provides a more accurate prediction of disease progression and has modified patient management. Haemangioma and focal nodular hyperplasia, the most common benign liver tumours that develop in the absence of chronic liver disease, are usually easy to diagnose on imaging and do not require specific treatment. However, hepatocellular adenomas and cirrhotic macronodules can be difficult to discriminate from hepatocellular carcinoma. The molecular subtyping of hepatocellular adenomas in five major subgroups defined by HNF1A inactivation, β-catenin mutation in exon 3 or exon 7/8, and activation of inflammatory or Hedgehog pathways helps to identify the tumours at risk of malignant transformation or bleeding. New clinical, biological and molecular tools have gradually been included in diagnostic and treatment algorithms to classify benign liver tumours and improve patient management. This Review aims to explain the main pathogenic mechanisms of benign liver tumours and how this knowledge could influence clinical practice.
Key points

    Hepatic haemangioma (HH) and focal nodular hyperplasia (FNH) are frequent benign liver tumours not related to contraception and are mostly diagnosed at imaging even if some FNH require a biopsy to reach a diagnosis.

    FNH and HH do not require any treatment owing to the absence of complications.

    Hepatocellular adenoma occurs mostly in young women (20–50 years) who have taken oestrogen-based contraception and could be complicated by tumour bleeding or malignant transformation to hepatocellular carcinoma.

    Hepatocellular adenomas are divided into molecular subgroups: HNF1A inactivated, inflammatory, CTNNB1 mutations in exon 3 (high risk of transformation), CTNNB1 mutations in exon 7/8 and Sonic Hedgehog activated (high risk of bleeding).

    Low-grade and high-grade dysplastic nodules are preneoplastic lesions developed in a cirrhotic liver that could progress to hepatocellular carcinoma through the acquisition of somatic mutations in the TERT promoter.






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