Slide of the Week: Clear Cell Carcinoma, Kidney, May 3, 2011

Clear cell carcinoma
Slide of the Week

A 15 year old male, who carries the diagnosis of von Hipple-Lindau Syndrome, has been followed routinely with CAT scans.  A mass was subsequently found in the left kidney and the following image was viewed. (Click here to see the whole slide image).

You would predict this mass to show which genetic abnormality:

  1. Mutation of VHL
  2. Deletions in chromosome 3
  3. Neither 1 nor 2
  4. Both 1 and 2

Scroll below for answer.


 

 

 

 

 

 

 

Answer: 4

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.

Reference:

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

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