International Journal of Molecular Medical Science, 2025, Vol.15, No.1, 33-41 http://medscipublisher.com/index.php/ijmms 33 Feature Review Open Access Genetic Basis and Clinical Significance of Liver Cysts Ruyi Shao1, XudongLü2 1 School of Medicine, ShaoXing University, Shaoxing, 312000, Zhejiang, China 2 The Zhuji Hospital of ShaoXing University, Zhuji, 311800, Zhejiang, China Corresponding author: zjjz_1122@yeah.net International Journal of Molecular Medical Science, 2025, Vol.15, No.1 doi: 10.5376/ijmms.2025.15.0004 Received: 11 Dec., 2024 Accepted: 30 Jan., 2025 Published: 12 Feb., 2025 Copyright © 2025 Shao and Lü, This is an open access article published under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Preferred citation for this article: Shao R.Y., and Lü X.D., 2025, Genetic basis and clinical significance of liver cysts, International Journal of Molecular Medical Science, 15(1): 33-41 (doi: 10.5376/ijmms.2025.15.0004) Abstract Hepatic cysts are complex diseases driven by various genetic and molecular mechanisms, encompassing both spontaneous and hereditary etiologies such as autosomal Dominant Polycystic Liver Disease (PCLD) and Polycystic Liver Disease (PLD) associated with Autosomal Dominant Polycystic Kidney Disease (ADPKD). Recent studies have revealed that mutations in key genes such as PKD1, PKD2, and PRKCSHplay critical roles in cyst formation by influencing ciliary signaling, endoplasmic reticulum stress, and the mTOR pathway. This study also explores the clinical characteristics of hepatic cysts, including symptomatology, diagnostic approaches, and associations with complications and comorbidities. Management strategies encompass conservative treatments, pharmacological interventions, as well as surgical and transplantation options, particularly for severe cases. The pivotal role of genetic analysis and personalized medicine in optimizing treatment plans is emphasized. This study provides a comprehensive overview of the genetic basis and clinical significance of hepatic cysts, offering insights to improve diagnostic and therapeutic strategies. Keywords Liver cysts; Genetic basis; Polycystic liver disease (PLD); PKD1; PKD2 1 Introduction Liver cysts, which include simple cysts and Polycystic Liver Disease (PLD), range from benign asymptomatic conditions to severe disorders with significant morbidity. Polycystic liver disease frequently occurs as part of Autosomal Dominant Polycystic Kidney Disease (ADPKD), with liver cysts developing in 33% of cases. The complications associated with PLD include hepatomegaly, organ compression, infection, and hemorrhage, necessitating interventions such as sclerotherapy or liver transplantation (Henriques and Villar, 2015). Recent studies have highlighted the need for stratified approaches in diagnosis and management (Giuliani et al., 2015). Liver cystogenesis involves mutations in key genes such as PRKCSH, SEC63, LRP5, PKD1, and PKD2, which regulate the polycystin pathway critical to biliary function (Besse et al., 2017). Loss of heterozygosity in cyst epithelium and disruptions in cellular pathways, including mTOR and endoplasmic reticulum stress, drive cyst formation and progression (Ellis et al., 2022). The genetic interaction networks suggest a unified pathway affecting polycystin expression and function, providing opportunities for targeted therapies (Lee-Law et al., 2019). This study explores the genetic and molecular mechanisms involved in the formation of hepatic cysts, emphasizing their clinical significance. It focuses on analyzing the roles of specific gene mutations, such as PKD1, PKD2, and PRKCSH, and evaluating their impact on cyst progression through pathways like ciliary signaling and mTOR activation. The research also examines clinical features, including symptomatology, diagnostic challenges, and associations with complications. Furthermore, it investigates treatment options, ranging from conservative management and pharmacological interventions to surgical approaches for severe cases. By integrating genetic insights with clinical data, this study aims to enhance understanding of hepatic cyst pathogenesis and contribute to improved diagnostic and personalized therapeutic strategies for related diseases. 2 Genetic Mechanisms Underlying Liver Cysts 2.1 Autosomal dominant polycystic kidney disease (ADPKD) and liver cysts Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most common inherited disorder leading to
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