Expression of Von Hippel – Lindau (VHL) gene mutation in diagnosed cases of renal cell carcinoma

Abstract

Objective: To evaluate the expression of Von Hippel Lindau (VHL) gene in diagnosed cases of  renal cell carcinoma.

Methods: This cross sectional study was conducted in department of Pathology, Basic Medical Sciences Institute, JPMC, Karachi, from January 2007 to December 2012. Paraffin embedded blocks of 30 cases of radical nephrectomy specimens diagnosed as renal cell carcinoma including CCRCC 21 (70%) CCPRCC, 3 (10%), PRCC 2 (6.79%), hybrid tumor 4 (13.3%), chromophobe tumor (0%) processed for VHL gene expression on Polymerase Chain Reaction.

Results: All the 30 cases previously diagnosed as renal cell carcinoma were processed on PCR, VHL gene mutations were seen in 20 (95.23%) of CCRCC while a single case was negative for VHL mutations. All CCPRCC were negative for VHL mutation. Among the hybrid tumor 03 cases with foci of clear cells show VHL mutation while a single case showing combination of clear cells and chromophobe cells was negative for mutation. Both the cases of PRCC were positive for mutation. Exon 3 mutation at base pair 194 seen in 8 (32%) cases and Exon 2 mutation at base pair 150-159 seen in 17 (68%) cases. None of the cases showed Exon 1 mutation.

Conclusion: The present study shows that  majority of CCRCC showed VHL mutation including the hybrid tumor with clear cell component in our population.

doi: http://dx.doi.org/10.12669/pjms.304.4733

How to cite this:Shahzad H, Kehar SI, Ali S, Tariq N. Expression of Von Hippel – Lindau (VHL) gene mutation in diagnosed cases of renal cell carcinoma. Pak J Med Sci 2014;30(4):880-885.   doi: http://dx.doi.org/10.12669/pjms.304.4733

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