Acquired cystic disease-associated renal cell carcinoma: an immunohistochemical and fluorescence in situ hybridization study

Med Mol Morphol. 2011 Dec;44(4):228-32. doi: 10.1007/s00795-010-0496-1. Epub 2011 Dec 17.

Abstract

Acquired cystic disease (ACD)-associated renal cell carcinoma (RCC) has been recently identified. However, there are only a few genetic studies to date. In this article, we performed an immunohistochemical and fluorescence in situ hybridization (FISH) study for six cases including one case with sarcomatoid change. As a result, we observed frequent immunohistochemical expression of AMACR. FISH of chromosome 3 showed trisomy for three cases, monosomy for two cases, and disomy for one case. Additionally, FISH of chromosome 16 showed trisomy for three cases, monosomy for two cases, and both trisomy and monosomy for one case. Furthermore, both the carcinomatous area and the sarcomatoid area of one ACD-associated RCC with sarcomatoid change revealed monosomy of chromosomes 3, 9, and 16 but showed disomy of chromosome 14. In conclusion, the numerical abnormalities of chromosomes 3 and 16, irrespective of gain or loss, may be characteristic of ACD-associated RCC.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Aneuploidy
  • Carcinoma, Renal Cell / genetics
  • Carcinoma, Renal Cell / metabolism*
  • Carcinoma, Renal Cell / pathology
  • Chromosomes, Human, Pair 14 / genetics
  • Chromosomes, Human, Pair 16 / genetics
  • Chromosomes, Human, Pair 3 / genetics
  • Chromosomes, Human, Pair 9 / genetics
  • Humans
  • In Situ Hybridization, Fluorescence
  • Keratin-7 / metabolism
  • Kidney Diseases, Cystic / genetics
  • Kidney Diseases, Cystic / metabolism*
  • Kidney Diseases, Cystic / pathology
  • Kidney Neoplasms / genetics
  • Kidney Neoplasms / metabolism*
  • Kidney Neoplasms / pathology
  • Male
  • Middle Aged
  • Mitochondria / metabolism
  • PAX2 Transcription Factor / metabolism
  • Racemases and Epimerases / metabolism

Substances

  • Keratin-7
  • PAX2 Transcription Factor
  • PAX2 protein, human
  • Racemases and Epimerases
  • alpha-methylacyl-CoA racemase