A Case of von Hippel–Lindau Disease with Colorectal Adenocarcinoma, Renal Cell Carcinoma and Hemangioblastomas
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초록
von Hippel–Lindau (VHL) disease is an autosomal dominant inherited tumor syn- drome associated with mutations of the VHL tumor suppressor gene located on chro- mosome 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.
Abstract
von Hippel–Lindau (VHL) disease is an autosomal dominant inherited tumor syn- drome associated with mutations of the VHL tumor suppressor gene located on chro- mosome 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.
참고문헌 (13)
- Lonser RR, "von Hippel-Lindau disease", Lancet, 361, pp.2059~2067 (2003)
- Maher ER, "Von Hippel-Lindau disease : a genetic study", J Med Genet, 28, pp.443~447 (1991)
- Sano T, "Von Hippel-Lindau disease", Microsc Res Tech, 60, pp.159~164 (2003)
- Maher ER, "von Hippel-Lindau disease : a clinical and scientific review", Eur J Hum Genet, 19, pp.617~623 (2011)
- Maddock IR, "A genetic register for von Hippel-Lindau disease", J Med Genet, 33, pp.120~127 (1996)
- Zinnamosca L, "von Hippel Lindau disease with colon adenocarcinoma, renal cell carcinoma and adrenal pheochromocytoma", Intern Med, 52, pp.1599~1603 (2013)
- Kaelin WG Jr, "The von Hippel-Lindau tumour suppressor protein : O2 sensing and cancer", Nat Rev Cancer, 8, pp.865~873 (2008)
- Xue X, "Hypoxia-inducible factor-2alpha activation promotes colorectal cancer progression by dysregulating iron homeostasis", Cancer Res, 72, pp.2285~2293 (2012)
- Folkman J, "Induction of angiogenesis during the transition from hyperplasia to neoplasia", Nature, 339, pp.58~61 (1989)
- 정규원, "Cancer Statistics in Korea: Incidence, Mortality, Survival, and Prevalence in 2011", Cancer Research and Treatment, 46(2), pp.109~123 (2014), 대한암학회
- Koh ES, "Role of fractionated external beam radiotherapy in hemangioblastoma of the central nervous system", Int J Radiat Oncol Biol Phys, 69, pp.1521~1526 (2007)
- 김호철, "Sunitinib Treatment for Metastatic Renal Cell Carcinoma in Patients with Von Hippel-Lindau Disease", Cancer Research and Treatment, 45(4), pp.349~353 (2013), 대한암학회[DOI]
- Maher ER, "Von Hippel-Lindau disease", Curr Mol Med, 4, pp.833~842 (2004)