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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Detalles Bibliográficos
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
Descripción
Sumario: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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