scholarly journals Somatic mutations of the von Hippel-Lindau disease gene in renal carcinomas occurring in patients with long-term dialysis

2007 ◽  
Vol 22 (7) ◽  
pp. 2052-2055 ◽  
Author(s):  
H. Inoue ◽  
N. Nonomura ◽  
Y. Kojima ◽  
M. Shiba ◽  
D. Oka ◽  
...  
Keyword(s):  
Somatic Mutations ◽  
Disease Gene ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease

Molecular Analysis of the von Hippel-Lindau Disease Gene

2001 ◽  
pp. 193-216
Author(s):  
Allen Chernoff ◽  
Viera Kasparcova ◽  
W. Marston Linehan ◽  
Catherine A. Stolle
Keyword(s):  
Molecular Analysis ◽  
Disease Gene ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease

scholarly journals Novel insights into the polycythemia–paraganglioma–somatostatinoma syndrome

2016 ◽  
Vol 23 (12) ◽  
pp. 899-908 ◽  
Author(s):  
Roland Därr ◽  
Joan Nambuba ◽  
Jaydira Del Rivero ◽  
Ingo Janssen ◽  
Maria Merino ◽  
...  
Keyword(s):  
Gallbladder Disease ◽  
Hypoxia Inducible Factor ◽  
Somatic Mosaicism ◽  
Clinical Aspects ◽  
Von Hippel Lindau ◽  
Pet Ct ◽  
Von Hippel Lindau Disease ◽  
Long Term Prognosis

Worldwide, the syndromes of paraganglioma (PGL), somatostatinoma (SOM) and early childhood polycythemia are described in only a few patients with somatic mutations in the hypoxia-inducible factor 2 alpha (HIF2A). This study provides detailed information about the clinical aspects and course of 7 patients with this syndrome and brings into perspective these experiences with the pertinent literature. Six females and one male presented at a median age of 28 years (range 11–46). Two were found to have HIF2A somatic mosaicism. No relatives were affected. All patients were diagnosed with polycythemia before age 8 and before PGL/SOM developed. PGLs were found at a median age of 17 years (range 8–38) and SOMs at 29 years (range 22–38). PGLs were multiple, recurrent and metastatic in 100, 100 and 29% of all cases, and SOMs in 40, 40 and 60%, respectively. All PGLs were primarily norepinephrine-producing. All patients had abnormal ophthalmologic findings and those with SOMs had gallbladder disease. Computed tomography (CT) and magnetic resonance imaging revealed cystic lesions at multiple sites and hemangiomas in 4 patients (57%), previously thought to be pathognomonic for von Hippel–Lindau disease. The most accurate radiopharmaceutical to detect PGL appeared to be [18F]-fluorodihydroxyphenylalanine ([18F]-FDOPA). Therefore, [18F]-FDOPA PET/CT, not [68Ga]-(DOTA)-[Tyr3]-octreotate ([68Ga]-DOTATATE) PET/CT is recommended for tumor localization and aftercare in this syndrome. The long-term prognosis of the syndrome is unknown. However, to date no deaths occurred after 6 years follow-up. Physicians should be aware of this unique syndrome and its diagnostic and therapeutic challenges.

scholarly journals Subcellular localization of the von Hippel-Lindau disease gene product is cell cycle-dependent

1998 ◽  
Vol 78 (1) ◽  
pp. 62-69 ◽  
Author(s):  
Ying Ye ◽  
Sandip Vasavada ◽  
Igor Kuzmin ◽  
Thomas Stackhouse ◽  
Berton Zbar ◽  
...  
Keyword(s):  
Cell Cycle ◽  
Subcellular Localization ◽  
Gene Product ◽  
Disease Gene ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease ◽  
Cycle Dependent

Taql and Pstl RFLPs in the von Hippel–Lindau disease gene (VHL)

1993 ◽  
Vol 2 (10) ◽  
pp. 1750-1750 ◽  
Author(s):  
F.M. Richards ◽  
F. Latif ◽  
M.I. Lerman ◽  
B. Zbar ◽  
E.R. Maher
Keyword(s):  
Disease Gene ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease
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