A Case of von Hippel–Lindau Disease with Colorectal Adenocarcinoma, Renal Cell Carcinoma and Hemangioblastomas

von Hippel–Lindau (VHL) disease is an autosomal dominant inherited tumor syndrome associated with mutations of the VHL tumor suppressor gene located on chromosome 3p25. The loss of functional VHL protein contributes to tumorigenesis. This condition is characterized by development of benign and malig...

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Autores principales: Heo, Su Jin, Lee, Choong-kun, Hahn, Kyu Yeon, Kim, Gyuri, Hur, Hyuk, Choi, Sung Hoon, Han, Kyung Seok, Cho, Arthur, Jung, Minkyu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Cancer Association 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4720105/
https://www.ncbi.nlm.nih.gov/pubmed/25715769
http://dx.doi.org/10.4143/crt.2014.299
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author Heo, Su Jin
Lee, Choong-kun
Hahn, Kyu Yeon
Kim, Gyuri
Hur, Hyuk
Choi, Sung Hoon
Han, Kyung Seok
Cho, Arthur
Jung, Minkyu
author_facet Heo, Su Jin
Lee, Choong-kun
Hahn, Kyu Yeon
Kim, Gyuri
Hur, Hyuk
Choi, Sung Hoon
Han, Kyung Seok
Cho, Arthur
Jung, Minkyu
author_sort Heo, Su Jin
collection PubMed
description von Hippel–Lindau (VHL) disease is an autosomal dominant inherited tumor syndrome associated with mutations of the VHL tumor suppressor gene located on chromosome 3p25. The loss of functional VHL protein contributes to tumorigenesis. This condition is characterized by development of benign and malignant tumors in the central nervous system (CNS) and the internal organs, including kidney, adrenal gland, and pancreas. We herein describe the case of a 74-year-old man carrying the VHL gene mutation who was affected by simultaneous colorectal adenocarcinoma, renal clear cell carcinoma, and hemangioblastomas of CNS.
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spelling pubmed-47201052016-01-27 A Case of von Hippel–Lindau Disease with Colorectal Adenocarcinoma, Renal Cell Carcinoma and Hemangioblastomas Heo, Su Jin Lee, Choong-kun Hahn, Kyu Yeon Kim, Gyuri Hur, Hyuk Choi, Sung Hoon Han, Kyung Seok Cho, Arthur Jung, Minkyu Cancer Res Treat Case Report von Hippel–Lindau (VHL) disease is an autosomal dominant inherited tumor syndrome associated with mutations of the VHL tumor suppressor gene located on chromosome 3p25. The loss of functional VHL protein contributes to tumorigenesis. This condition is characterized by development of benign and malignant tumors in the central nervous system (CNS) and the internal organs, including kidney, adrenal gland, and pancreas. We herein describe the case of a 74-year-old man carrying the VHL gene mutation who was affected by simultaneous colorectal adenocarcinoma, renal clear cell carcinoma, and hemangioblastomas of CNS. Korean Cancer Association 2016-01 2015-02-17 /pmc/articles/PMC4720105/ /pubmed/25715769 http://dx.doi.org/10.4143/crt.2014.299 Text en Copyright © 2016 by the Korean Cancer Association This is an Open-Access article distributed under the terms of the Creative Commons Attribution Non-Commercia lLicense (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Heo, Su Jin
Lee, Choong-kun
Hahn, Kyu Yeon
Kim, Gyuri
Hur, Hyuk
Choi, Sung Hoon
Han, Kyung Seok
Cho, Arthur
Jung, Minkyu
A Case of von Hippel–Lindau Disease with Colorectal Adenocarcinoma, Renal Cell Carcinoma and Hemangioblastomas
title A Case of von Hippel–Lindau Disease with Colorectal Adenocarcinoma, Renal Cell Carcinoma and Hemangioblastomas
title_full A Case of von Hippel–Lindau Disease with Colorectal Adenocarcinoma, Renal Cell Carcinoma and Hemangioblastomas
title_fullStr A Case of von Hippel–Lindau Disease with Colorectal Adenocarcinoma, Renal Cell Carcinoma and Hemangioblastomas
title_full_unstemmed A Case of von Hippel–Lindau Disease with Colorectal Adenocarcinoma, Renal Cell Carcinoma and Hemangioblastomas
title_short A Case of von Hippel–Lindau Disease with Colorectal Adenocarcinoma, Renal Cell Carcinoma and Hemangioblastomas
title_sort case of von hippel–lindau disease with colorectal adenocarcinoma, renal cell carcinoma and hemangioblastomas
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4720105/
https://www.ncbi.nlm.nih.gov/pubmed/25715769
http://dx.doi.org/10.4143/crt.2014.299
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