Diffuse Adenomatosis and Hepatocellular Carcinoma Treated with Liver Transplantation in an Adolescent Female with Kabuki Syndrome with a Novel KMT2D Gene Mutation

Kabuki syndrome (KS) is a rare disorder primarily associated with mutations in the KMT2D and KDM6A genes. Several tumors have been reported with KS; however, there have been no reports of hepatocellular carcinoma (HCC) or hepatic adenomatosis. We present an adolescent girl with KS and a novel KMT2D...

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Autores principales: Timothy, Leander D., Lehrke, Heidi D., Chandan, Vishal S., Kolbe, Amy B., Furuya, Katryn N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6507262/
https://www.ncbi.nlm.nih.gov/pubmed/31179148
http://dx.doi.org/10.1155/2019/7983824
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author Timothy, Leander D.
Lehrke, Heidi D.
Chandan, Vishal S.
Kolbe, Amy B.
Furuya, Katryn N.
author_facet Timothy, Leander D.
Lehrke, Heidi D.
Chandan, Vishal S.
Kolbe, Amy B.
Furuya, Katryn N.
author_sort Timothy, Leander D.
collection PubMed
description Kabuki syndrome (KS) is a rare disorder primarily associated with mutations in the KMT2D and KDM6A genes. Several tumors have been reported with KS; however, there have been no reports of hepatocellular carcinoma (HCC) or hepatic adenomatosis. We present an adolescent girl with KS and a novel KMT2D mutation who developed diffuse adenomatosis, HCC, and subsequently underwent liver transplantation.
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spelling pubmed-65072622019-06-09 Diffuse Adenomatosis and Hepatocellular Carcinoma Treated with Liver Transplantation in an Adolescent Female with Kabuki Syndrome with a Novel KMT2D Gene Mutation Timothy, Leander D. Lehrke, Heidi D. Chandan, Vishal S. Kolbe, Amy B. Furuya, Katryn N. Case Rep Pediatr Case Report Kabuki syndrome (KS) is a rare disorder primarily associated with mutations in the KMT2D and KDM6A genes. Several tumors have been reported with KS; however, there have been no reports of hepatocellular carcinoma (HCC) or hepatic adenomatosis. We present an adolescent girl with KS and a novel KMT2D mutation who developed diffuse adenomatosis, HCC, and subsequently underwent liver transplantation. Hindawi 2019-04-24 /pmc/articles/PMC6507262/ /pubmed/31179148 http://dx.doi.org/10.1155/2019/7983824 Text en Copyright © 2019 Leander D. Timothy et al. http://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Timothy, Leander D.
Lehrke, Heidi D.
Chandan, Vishal S.
Kolbe, Amy B.
Furuya, Katryn N.
Diffuse Adenomatosis and Hepatocellular Carcinoma Treated with Liver Transplantation in an Adolescent Female with Kabuki Syndrome with a Novel KMT2D Gene Mutation
title Diffuse Adenomatosis and Hepatocellular Carcinoma Treated with Liver Transplantation in an Adolescent Female with Kabuki Syndrome with a Novel KMT2D Gene Mutation
title_full Diffuse Adenomatosis and Hepatocellular Carcinoma Treated with Liver Transplantation in an Adolescent Female with Kabuki Syndrome with a Novel KMT2D Gene Mutation
title_fullStr Diffuse Adenomatosis and Hepatocellular Carcinoma Treated with Liver Transplantation in an Adolescent Female with Kabuki Syndrome with a Novel KMT2D Gene Mutation
title_full_unstemmed Diffuse Adenomatosis and Hepatocellular Carcinoma Treated with Liver Transplantation in an Adolescent Female with Kabuki Syndrome with a Novel KMT2D Gene Mutation
title_short Diffuse Adenomatosis and Hepatocellular Carcinoma Treated with Liver Transplantation in an Adolescent Female with Kabuki Syndrome with a Novel KMT2D Gene Mutation
title_sort diffuse adenomatosis and hepatocellular carcinoma treated with liver transplantation in an adolescent female with kabuki syndrome with a novel kmt2d gene mutation
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6507262/
https://www.ncbi.nlm.nih.gov/pubmed/31179148
http://dx.doi.org/10.1155/2019/7983824
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