VHL mutations and dysregulation of pVHL- and PTEN-controlled pathways in multilocular cystic renal cell carcinoma

Mod Pathol. 2011 Apr;24(4):571-8. doi: 10.1038/modpathol.2010.222. Epub 2010 Dec 10.

Abstract

Multilocular cystic renal cell carcinoma is a rare renal cell carcinoma with an excellent prognosis. To clarify the relationship with typical clear cell renal cell carcinoma, we evaluated 15 cases of multilocular cystic renal cell carcinomas diagnosed according to the 2004 WHO classification. Von Hippel Lindau (VHL) gene mutations were determined by whole genome amplification and direct sequencing. Carbonic anhydrase 9 (CAIX), a hypoxia-inducible factor (HIF) target, paired box gene 2 (PAX2), cyclin-dependent kinase inhibitor p27 and glycogen synthase kinase 3-β (GSK3β) were immunohistochemically evaluated as members of the VHL protein (pVHL)- and phosphatase and tensin homolog (PTEN)-controlled pathways. VHL mutations were identified in 3 of 12 (25%) tumors. Inactivated GSK3β, decreased PTEN expression and PAX2 positivity were observed in the vast majority of the multilocular cystic renal cell carcinomas. Strong nuclear staining of p27 was seen in 14 of 15 cases. Compared with multilocular cystic renal cell carcinomas, expression frequencies of PAX2, p-GSK3β, PTEN and CAIX were similar in a set of low-grade, early-stage clear cell renal cell carcinomas, whereas only 30% had strong p27 positivity. These results are consistent with the hypothesis that multilocular cystic renal cell carcinomas are related at the molecular level with clear cell renal cell carcinomas. Maintenance of a strong subcellular p27 expression in all multilocular cystic renal cell carcinomas analyzed may in part explain the excellent prognosis of these tumor patients.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Antigens, Neoplasm / analysis
  • Carbonic Anhydrase IX
  • Carbonic Anhydrases / analysis
  • Carcinoma, Renal Cell / chemistry
  • Carcinoma, Renal Cell / genetics*
  • Carcinoma, Renal Cell / pathology
  • Chi-Square Distribution
  • Cyclin-Dependent Kinase Inhibitor p27 / analysis
  • DNA Mutational Analysis
  • Glycogen Synthase Kinase 3 / analysis
  • Glycogen Synthase Kinase 3 beta
  • Humans
  • Immunohistochemistry
  • Kidney Neoplasms / chemistry
  • Kidney Neoplasms / genetics*
  • Kidney Neoplasms / pathology
  • Mutation*
  • Neoplasm Staging
  • Neoplasms, Cystic, Mucinous, and Serous / chemistry
  • Neoplasms, Cystic, Mucinous, and Serous / genetics*
  • Neoplasms, Cystic, Mucinous, and Serous / pathology
  • PAX2 Transcription Factor / analysis
  • PTEN Phosphohydrolase / analysis*
  • Phosphorylation
  • Signal Transduction / genetics*
  • Von Hippel-Lindau Tumor Suppressor Protein / analysis
  • Von Hippel-Lindau Tumor Suppressor Protein / genetics*

Substances

  • Antigens, Neoplasm
  • CDKN1B protein, human
  • PAX2 Transcription Factor
  • PAX2 protein, human
  • Cyclin-Dependent Kinase Inhibitor p27
  • Von Hippel-Lindau Tumor Suppressor Protein
  • GSK3B protein, human
  • Glycogen Synthase Kinase 3 beta
  • Glycogen Synthase Kinase 3
  • PTEN Phosphohydrolase
  • PTEN protein, human
  • CA9 protein, human
  • Carbonic Anhydrase IX
  • Carbonic Anhydrases
  • VHL protein, human