By Norm D. Smith, Frederick L. Hoff, Steven C. Campbell (auth.), Andrew C. Novick MD, Michael Marberger MD (eds.)
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VHL gene deletion (loss of the second copy of the VHL gene) has also been detected in a high percentage of tumors from patients with clear-cell renal carcinoma. VHL gene mutation and deletion have been detected in patients with early, small renal carcinomas as well as in tumors from patients with advanced disease. These results demonstrated that inactivation of the VHL gene is an early event in tumorigenesis of clear-cell renal carcinoma. ~~ ~ + Substitution l Insertion Microdeletion * onsense X Splice site t FIGURE 3-19.
Mter 5 to 10 years of dialysis, up ro 90% of patients with end-stage renal disease have acquired renal cystic disease. Renal cell carcinoma may develop in association with cysts in 1o/o to 2% of patients . This prevalence of renal cell carcinoma appears to be greater than that seen in screening or autopsy studies, but the clinical usefulness of screening is debated [10,11]. L- left. t FIGURE 2-17. Computed tomographic image ofbilateral oncocytomas. Classically, oncocytomas on CT have "central scars," as seen in both of these lesions.
For example, in a family in which there is a missense VHL mutation at VHL codon 238, pheochromocytoma is highly likely to be present in affected individuals. This type of information can be useful when counseling and treating such patients. • • • • • •v•o• n• H Early detection in at-ri k individuals Germ line te ting recommended at 1 year of age Accurate diagno i VHL ver u ME II Ability to predict organ at ri k Mi en e mutation codon 238: VHL type II t FIGURE 3-15. Clinical applications for germline von Hippel-Lindau (VHL) analysis.