von Hippel-Lindau sendromu | hemangioblastoma

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)

Paraganlioma

Pankreas kistleri

Pankreasta nöroendokrin tümör

Endolenfatik kese tümörü

Epididim kisti

Polisitemi

Ağız mukozasında varisler (multipl flebektazi)

Lonser RR, Glenn GM, Walther M, et al. von Hippel-Lindau disease. Lancet, 361:2059–2067, 2003
Catapano D, Muscarella LA, Guarnieri V, et al. Hemangioblastomas of central nervous system: molecular genetic analysis and clinical management. Neurosurgery, 56:1215–1221, 2005
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
Lonser RR, Butman JA, Kİringoda R, et al. Pituitary stalk hemangioblastomas in von Hippel-Lindau disease. Journal of Neurosurgery, 110:350–353, 2009
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
Maher ER, Neumann HP, Richard S. von Hippel-Lindau disease: a clinical and scientific review. European Journal of Human Genetics, 19:617–623, 2011
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