New case of syncytial giant-cell variant of hepatocellular carcinoma in a pediatric patient with HNF1B deficiency: does it fit with the syndrome?

Michele Pinon,Alessandro Gambella,Laura Giugliano,Cristina Chiadò,Silvia Kalantari,Valeria Bracciamà,Silvia Deaglio, Davide Tinti,Licia Peruzzi, Roberta Cotti,Silvia Catalano,Massimiliano Cadamuro,Luca Fabris,Pier Luigi Calvo,Renato Romagnoli

BMJ open gastroenterology（2022）

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摘要

Our case highlights the influence of deficiency in liver disease progression and its putative association with a rare yet specific HCC histotype. We hypothesised that HCC could be secondary to the repressive effect of variant on the transcriptional activity.

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CHOLESTATIC LIVER DISEASES,DIABETES MELLITUS,HEPATIC FIBROSIS,HEPATOCELLULAR CARCINOMA

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