The Correct Answer is D: Mutation of VHL and Deletions in chromosome 3
Comment: Since 40% of von Hipple-Lindau patients develop renal cell carcinoma (RCC), and since about 65% of RCC are clear cell type, you would predict that both a mutation of VHL and deletions in chromosome 3 would be found. The pathologist often is challenged in classifying renal cell carcinomas. The use of genetic markers is being used more frequently for classification since gene identification can be of great assistance in separating the five RCC tumor types.
Maher, ER, HPH Neumann, S Richard. Von Hippel-Lindau Disease: A Clinical and Scientific Review. European Journal of Human Genetics online publication. (2011), 1-7. PMID: 21386872