代谢功能障碍相关脂肪性肝病（MASLD）相关恶性肿瘤的诊断与组学技术：检测与预测
Diagnostics and omics technologies for the detection and prediction of metabolic dysfunction-associated steatotic liver disease-related malignancies
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影响因子:11.9
分区:医学1区 Top / 内分泌学与代谢1区
发表日期:2024 Dec
作者:
Tian Lan, Frank Tacke
DOI:
10.1016/j.metabol.2024.156015
摘要
MASLD（代谢功能障碍相关脂肪性肝病）的患病率持续上升，已成为慢性肝病的主要病因及肝相关死亡的主要原因。MASLD可进展为脂肪性肝炎（称为MASH）、纤维化、肝硬化，最终发展为癌症。MASLD与肝细胞癌（HCC）以及肝外恶性肿瘤的风险增加相关，无论是在肝硬化还是非肝硬化患者中都可能发生，强调了识别具有MASLD相关肿瘤发展风险的患者的重要性。然而，目前关于高风险患者的最佳筛查、诊断和风险分层策略仍存在争议。建议MASH相关肝硬化患者每六个月进行一次HCC筛查（如超声和生物标志物）。目前尚未建立非肝硬化MASLD相关肿瘤的特定筛查方法。快速发展的组学技术，包括遗传学、代谢组学和蛋白组学，在发现非侵入性标志物方面展现出巨大潜力，以满足这一未被满足的需求。本文综述了MASLD相关肿瘤的发病率和死亡率、当前的HCC筛查、监测和诊断策略，以及组学技术在发现非侵入性标志物、预测和风险分层中的新兴作用。
Abstract
The prevalence of metabolic dysfunction-associated steatotic liver disease (MASLD) continues to rise, making it the leading etiology of chronic liver diseases and a prime cause of liver-related mortality. MASLD can progress into steatohepatitis (termed MASH), fibrosis, cirrhosis, and ultimately cancer. MASLD is associated with increased risks of hepatocellular carcinoma (HCC) and also extrahepatic malignancies, which can develop in both cirrhotic and non-cirrhotic patients, emphasizing the importance of identifying patients with MASLD at risk of developing MASLD-associated malignancies. However, the optimal screening, diagnostic, and risk stratification strategies for patients with MASLD at risk of cancer are still under debate. Individuals with MASH-associated cirrhosis are recommended to undergo surveillance for HCC (e.g. by ultrasound and biomarkers) every six months. No specific screening approaches for MASLD-related malignancies in non-cirrhotic cases are established to date. The rapidly developing omics technologies, including genetics, metabolomics, and proteomics, show great potential for discovering non-invasive markers to fulfill this unmet need. This review provides an overview on the incidence and mortality of MASLD-associated malignancies, current strategies for HCC screening, surveillance and diagnosis in patients with MASLD, and the evolving role of omics technologies in the discovery of non-invasive markers for the prediction and risk stratification of MASLD-associated HCC.