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New case of syncytial giant-cell variant of hepatocellular carcinoma in a pediatric patient with HNF1B deficiency: does it fit with the syndrome?
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 insuffi...
Autores principales: | , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BMJ Publishing Group
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9806080/ https://www.ncbi.nlm.nih.gov/pubmed/36572455 http://dx.doi.org/10.1136/bmjgast-2022-001013 |
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author | Pinon, Michele Gambella, Alessandro Giugliano, Laura Chiadò, Cristina Kalantari, Silvia Bracciamà, Valeria Deaglio, Silvia Tinti, Davide Peruzzi, Licia Cotti, Roberta Catalano, Silvia Cadamuro, Massimiliano Fabris, Luca Calvo, Pier Luigi Romagnoli, Renato |
author_facet | Pinon, Michele Gambella, Alessandro Giugliano, Laura Chiadò, Cristina Kalantari, Silvia Bracciamà, Valeria Deaglio, Silvia Tinti, Davide Peruzzi, Licia Cotti, Roberta Catalano, Silvia Cadamuro, Massimiliano Fabris, Luca Calvo, Pier Luigi Romagnoli, Renato |
author_sort | Pinon, Michele |
collection | PubMed |
description | 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 cholestatic liver disease of unknown origin. CONCLUSIONS: Our case highlights the influence of HNF1B 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 HNF1B variant on the HNF1A transcriptional activity. |
format | Online Article Text |
id | pubmed-9806080 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | BMJ Publishing Group |
record_format | MEDLINE/PubMed |
spelling | pubmed-98060802023-01-03 New case of syncytial giant-cell variant of hepatocellular carcinoma in a pediatric patient with HNF1B deficiency: does it fit with the syndrome? Pinon, Michele Gambella, Alessandro Giugliano, Laura Chiadò, Cristina Kalantari, Silvia Bracciamà, Valeria Deaglio, Silvia Tinti, Davide Peruzzi, Licia Cotti, Roberta Catalano, Silvia Cadamuro, Massimiliano Fabris, Luca Calvo, Pier Luigi Romagnoli, Renato BMJ Open Gastroenterol Hepatology 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 cholestatic liver disease of unknown origin. CONCLUSIONS: Our case highlights the influence of HNF1B 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 HNF1B variant on the HNF1A transcriptional activity. BMJ Publishing Group 2022-12-23 /pmc/articles/PMC9806080/ /pubmed/36572455 http://dx.doi.org/10.1136/bmjgast-2022-001013 Text en © Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. https://creativecommons.org/licenses/by-nc/4.0/This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/ (https://creativecommons.org/licenses/by-nc/4.0/) . |
spellingShingle | Hepatology Pinon, Michele Gambella, Alessandro Giugliano, Laura Chiadò, Cristina Kalantari, Silvia Bracciamà, Valeria Deaglio, Silvia Tinti, Davide Peruzzi, Licia Cotti, Roberta Catalano, Silvia Cadamuro, Massimiliano Fabris, Luca Calvo, Pier Luigi Romagnoli, Renato New case of syncytial giant-cell variant of hepatocellular carcinoma in a pediatric patient with HNF1B deficiency: does it fit with the syndrome? |
title | New case of syncytial giant-cell variant of hepatocellular carcinoma in a pediatric patient with HNF1B deficiency: does it fit with the syndrome? |
title_full | New case of syncytial giant-cell variant of hepatocellular carcinoma in a pediatric patient with HNF1B deficiency: does it fit with the syndrome? |
title_fullStr | New case of syncytial giant-cell variant of hepatocellular carcinoma in a pediatric patient with HNF1B deficiency: does it fit with the syndrome? |
title_full_unstemmed | New case of syncytial giant-cell variant of hepatocellular carcinoma in a pediatric patient with HNF1B deficiency: does it fit with the syndrome? |
title_short | New case of syncytial giant-cell variant of hepatocellular carcinoma in a pediatric patient with HNF1B deficiency: does it fit with the syndrome? |
title_sort | new case of syncytial giant-cell variant of hepatocellular carcinoma in a pediatric patient with hnf1b deficiency: does it fit with the syndrome? |
topic | Hepatology |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9806080/ https://www.ncbi.nlm.nih.gov/pubmed/36572455 http://dx.doi.org/10.1136/bmjgast-2022-001013 |
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