Abstract
BackgroundHepatocyte nuclear factor 1B (HNF1B) is a member of the homeodomain-containing family of transcription factors located on 17q12.HNF1Bdeficiency is associated with a clinical syndrome (kidney and urogenital malformations, maturity-onset diabetes of the young, exocrine pancreatic insufficiency) and to an underdiagnosed liver involvement. Differently fromHNF1A, the correlation between hepatocellular carcinoma (HCC) and germlineHNF1Bdeficiency has been poorly evaluated.Case reportHere, we report a novel case of a syndromicHNF1B-deficient paediatric patient that developed HCC with unique histopathological features characterised by neoplastic syncytial giant cells, which was observed only in one additional case of paediatric cholestatic liver disease of unknown origin.ConclusionsOur case highlights the influence ofHNF1Bdeficiency 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 ofHNF1Bvariant on theHNF1Atranscriptional activity.
Cited by
2 articles.
订阅此论文施引文献
订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献