von Hippel-Lindau sendromu/hastalığı
Hemangioblastoma
Kalıtsal - AD
Retina, vertebra ve serebellum yerleşimli en az 2 hemangioblastoma (Lindau tümörü) saptanır
Başkaca organ hemangioblastoma’ları: akciğer, karaciğer, böbrek, pankreas, epididim
Multipl böbrek kistleri
Böbrek hücreli karsinom (renal cell ca)
Adrenal ya da ekstra-adrenal feokromositoma
Paraganlioma
Pankreas kistleri
Pankreasta nöroendokrin tümör
Endolenfatik kese tümörü
Epididim kisti
Polisitemi
Ağız mukozasında varisler (multipl flebektazi)
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Lonser RR, Glenn GM, Walther M, et al. von Hippel-Lindau disease. Lancet, 361:2059–2067, 2003
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Catapano D, Muscarella LA, Guarnieri V, et al. Hemangioblastomas of central nervous system: molecular genetic analysis and clinical management. Neurosurgery, 56:1215–1221, 2005
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Shuin T, Yamasaki I, Tamura K, et al. Von Hippel-Lindau disease: molecular pathological basis, clinical criteria, genetic testing, clinical features of tumors and treatment. Japanese Journal of Clinical Oncology, 36(6):337-343, 2006
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Lonser RR, Butman JA, Kİringoda R, et al. Pituitary stalk hemangioblastomas in von Hippel-Lindau disease. Journal of Neurosurgery, 110:350–353, 2009
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Nordstrom-O'Brien M, van der Luijt RB, van Rooijen E, et al. Genetic analysis of von Hippel-Lindau disease. Human Mutation, 31: 521-537, 2010
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Maher ER, Neumann HP, Richard S. von Hippel-Lindau disease: a clinical and scientific review. European Journal of Human Genetics, 19:617–623, 2011
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Woo CG, Choi SY, Kwak JJ, et al. Clear cell neuroendocrine tumor of the pancreas in von Hippel-Lindau disease: a case report and literature review. Neuroendocrinology Letters, 38(2):83-86, 2017