Von Hippel-Lindau syndrome

Eisenhofer G, Walther MM, Huynh TT, Li ST, Bornstein SR, Vortmeyer A, et al. Pheochromocy-tomas in von Hippel-Lindau syndrome and multiple endocrine neoplasia type 2 display distinct biochemical and clinical phenotypes. J CUn Endocrinol Metab 2001 86 1999-2008. 

VHL protein stability regulator renal (clear cell), von Hippel Lindau syndrome... 

Brouwers PM, Glasker S, Nave AF, et al. Proteomic profiling of von Hippel Lindau syndrome and mrrltiple endocrine neoplasia type 2 pheochromocytomas reveal different expression of chromogranin B. Endocr Relat Cancer. 2007 14 463-471. 

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. 

Renal tumors can occur as part of complex genetic diseases (Table 3.7). Tumors are major manifestations in the two forms of tuberous sclerosis and the von Hippel-Lindau syndrome. The responsible genes are tumor suppressor genes. The two step hypothesis of Knudson gives an explanation for the great clinical variability. 

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. ... 

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... 

Serous cystadenoma (SCA) is the only nonmucinous example of ductal neoplasia in the pancreas and, unlike other ductal tumors, has virtually no tendency for malignant transformation. It is also known to have a well-established association with von Hippel-Lindau (vHL) syndrome. iez... 

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