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

ABSTRACT:

Background

Hepatocyte nuclear factor 1B (HNF1B) is a member of the homeodomain-containing family of transcription factors located on 17q12. HNF1B deficiency 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 from HNF1A, the correlation between hepatocellular carcinoma (HCC) and germline HNF1B deficiency has been poorly evaluated.

Case report

Here, we report a novel case of a syndromic HNF1B-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 ch

SUBMITTER: Pinon M 

PROVIDER: S-EPMC9806080 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature