Von Hippel-Lindau disease

Latif, F. et al. Identification of the von Hippel-Lindau disease tumor suppressor gene. Science 1993, 260, 1317-20. 

Linehan WM, Oldfield EH. von Hippel-Lindau disease. The Lancet 2003 361 2059-2067. 144. 

Von Hippel Lindau disease children Breast cancer in mothers Hemangiomas in the... 

Eisenhofer G, Lenders JW, Linehan WM, Walther MM, Goldstein DS, Reiser HR. Plasma normetanephrine and metanephrine for detecting pheochromocytoma in von Hippel-Lindau disease and multiple endocrine neoplasia type 2. N Engl J Med 1999 340 1872-9. 

Von Hippel-Lindau disease Breast or ovarian cancer... 

Von Hippel-Lindau disease is inherited on an autosomal dominant gene that may show marked expressive variability of cancer phenotype in certain patients and families. A patient with a strongly positive family history of this disease, at age 28, underwent craniotomy with removal of a cystic cerebellar hemangioblastoma. At age 48 he developed syringomyelia of the spinal cord, became quadriplegic, and had a progressive downhill course. At autopsy, hemangioblastomas... 

Physical examination may be normal or show a blue or red mass behind the tympanic membrane. There is no significant lateralization to either ear. Bilateral lesions, either synchronous or asynchronous, have been described but are exceptional and should always arouse suspicion of Von-Hippel-Lindau disease (VHLD). Preliminary data indicate that at least 15% of all ELSTs are associated with VHLD and that the ELST is just another expanding list of lesions associated with this syndrome. ... 

Gaffey MJ, Mills SE, Boyd JG Aggressive papillary tumor of middle ear/temporal bone and adnexal papillary cystadenoma. Manifestations of von Hippel-Lindau disease. Am J Surg Pathol. 1254 18(12) 1254-1260. 

Horiguchi H, Sano T, Toi H, et al. Endolymphatic sac tumor associated with a von Hippel-Lindau disease patient an immu-nohistochemical study. Mod Pathol. 2001 14(7) 727-732. 

About 5% to 10% of GI neuroendocrine tumors are associated with a hereditary disease. The inherited syndromes and their associated genes include multiple endocrine neoplasia type I MENl gene), neurofibromatosis type 1 NFl gene), von Hippel-Lindau disease VHL gene), and the tuberous sclerosis complex TSCl or TSC2 gene).406... 

Lubensky lA, Pack S, Ault D, et al. Multiple neuroendocrine tumors of the pancreas in von Hippel-Lindau disease patients histopathological and molecular genetic analysis. Am J Pathol. 1998 153 223-231. 

Volatile organic compounds 1344 Von Hippel-Lindau disease, pathways and targets for 628... 

Von Hippel-Lindau disease (VHL) is an autosomal dominant condition secondary to an alteration in a tumor suppressor gene on chromosome 3. It has incomplete penetrance and is characterized by hemangioblastomas in the retina, CNS, renal cell carcinoma, endolymphatic sac tumors, pheochro-mocytomas, papillary cystadenoma of the epididymis, angiomas of the liver and kidney, cysts of the liver, kidney and epididymis, and pulmonary arteriovenous shunts (Fig. 4.18a-c). In the pancreas, VHL may have multiple presentations, the most common being the presence of multiple small pancreatic cysts with calcifications in 40% of cases. Serous cystad-enomas, solid nonfunctional islet cell tumors, and adenocarcinoma are less common (Richard et al. 2004). 

Hough DM, Stephens DH, Johnson CD et al (1994) Pancreatic lesions in von Hippel-Lindau disease prevalence, clinical significance, and CT findings. AJR Am J Roentgenol 162 1091-1094... 

Richard S, Lindau J, Graff J et al (2004) Von Hippel-Lindau disease. Lancet 363 1231-1234... 

With particular attention to the von Hippel-Lindau population, Pavlovich et al. (2002) reported results of RF ablation in 24 tumors all less than 3 cm. A total of 22 tumors were in patients with von Hippel-Lindau disease, and two were in patients with hereditary papillary renal carcinoma. In these... 

RCC is the third most common genitourinary tumor and accounts for 3% of all malignancies in adults. The tumor usually is detected in older patients. Some known risk factors for renal cell carcinoma are von Hippel-Lindau disease and smoking. With the increased use of ultrasound, MRI and CT, the detection rate of carcinomas in an asymptomatic state is increasing. These incidentally detected tumors usually have smaller size, lower tumor stage, and better survival rates of the patients. 

Latif F, Tory K, Gnarra J, Yao M, Duh F-M, Orcutt ML, Stackhouse T, Kuzmin I, Modi W, Geil L, Schmidt L, Zhou F, Li H, Wei MH, Chen F, Glenn G, Choyke R Walther MM, Weng Y, Duan D-SR, Dean M, Glavac D, Richards FM, Crossey PA, Ferguson-Smith MA, Le Paslier D, Chumakov 1, Cohen D, Chinault AC, Maher ER, Linehan WM, Zbar B, Lerman MI. Identification of the von Hippel-Lindau disease tumor suppressor gene. Science 1993 260 1317-1320. 

Ye Y, Vasavada S, Kuzmin I, Stackhouse T, Zbar B, Williams BRG. Subcellular localization of the von Hippel-Lindau disease gene product is cell cycle-dependent. Int J Cancer 1998 78 62-69. 

Clifford SC, Cockman ME, Smallwood AC, Mole DR, Woodward ER, Maxwell PH, Ratchffe PJ, Maher ER. Contrasting effects on HIF-la regulation by disease-causing pVHL mutations correlate with patterns of tumourigenesis in von Hippel-Lindau disease. Hum Mol Genet 2001 10 1029-1038. 

Bender BU, Altehofer C, Januszewicz A, Gartner R, Schmidt H, Hoffinann MM, Heidemarm PH, Neumann HPH. Ftmctioning thoracic paraganglioma association with von Hippel-Lindau syndrome. J Clin Endocrinol Metabol 1997 82 3356-3360. Zanelli M, Van Der Walt JD. Carotid body paraganglioma in von Hippel-Lindau disease. Histopathology 1996 29 178-181. 

Richard S, Beigehnan C, Duclos JM, Fendler JP, Plauchu H, Plouin PR, Resche F, Schlumberger M, Vermesse B, Proye C. Pheochromocytoma as the first manifestation of von Hippel-Lindau disease. Surgery 1994 116 1076-1081. 

Crossey PA, Eng C, Ginalska-Mahnowska M, Leimard TWJ, Wheeler DD, Ponder BAJ, Maher ER. Molecular genetic diagnosis of von Hippel-Lindau disease in familial pheochiomocytoma. J Med Genet 1995 32 885—886. 

Atuk NO, StoUe C, Owen Jr, JA, Carpenter JT, Vance ML. Pheochromocytoma in von Hippel-Lindau disease clinical presentation and mutation analysis in a large multigeneiational kindred. J Chn Endocrinol Metabol 1998 83(1) 117-120. 

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