title: 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.
  
  
  CONCLUSIONS
  The present study shows that majority of CCRCC showed VHL mutation including the hybrid tumor with clear cell component in our population.
authors.affiliation: Humera Shahzad, Lecturer, Pathology Department, Basic Medical Sciences Institute, Jinnah Postgraduate Medical Centre (JPMC), Karachi, Pakistan.
authors.forename: Humera
authors.initials: H
authors.lastname: Shahzad
authors.affiliation: Shahnaz Imdad Kehar, Associate Professor, Pathology Department, Basic Medical Sciences Institute, Jinnah Postgraduate Medical Centre (JPMC), Karachi, Pakistan.
authors.forename: Shahnaz Imdad
authors.initials: SI
authors.lastname: Kehar
authors.affiliation: Shahzad Ali, Associate Professor, Urology Department, Jinnah Postgraduate Medical Centre (JPMC), Karachi, Pakistan.
authors.forename: Shahzad
authors.initials: S
authors.lastname: Ali
authors.affiliation: Naila Tariq, Assistant Professor, Clinical Pathology Department, Jinnah Postgraduate Medical Centre (JPMC), Karachi, Pakistan.
authors.forename: Naila
authors.initials: N
authors.lastname: Tariq
keywords: Clear cell papillary renal cell carcinoma (CCPRC); Papillary RCC (PRCC); Renal cell carcinoma (RCC) Clear cell renal cell carcinoma (CCRCC); Von Hippel Lindau (VHL) gene
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