Immunohistochemical and molecular genetic profiling of acquired cystic disease-associated renal cell carcinoma

Chin Chen Pan*, Yann Jang Chen, Liang Che Chang, Yen Hwa Chang, Donald M.T. Ho

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

59 Scopus citations


Aims: Acquired cystic disease-associated renal cell carcinoma (ACD-associated RCC) is a unique neoplasm that specifically develops in the background of acquired cystic disease of the kidney. The aim was to analyse nine ACD-associated RCCs from three patients to determine their immunohistochemical and molecular characteristics using immunohistochemistry, comparative genomic hybridization (CGH) and fluorescence in situ hybridization (FISH). Methods and results: ACD-associated RCC preferentially expressed proximal nephron phenotype (CD10+/RCC marker+/α-methylacyl-CoA racemase+/glutathione S-transferase-α+/BerEP4+/cytokeratin 7-/E-cadherin-/high-molecular-weight cytokeratin-/MOC31-). CGH combined with FISH demonstrated non-random chromosomal gains clustering on chromosomes 3 (8/9), 7 (6/9), 16 (7/9), 17 (4/9) and Y (5/9). Chromosomal losses were uncommon. The chromosomal aberrations in all multifocal tumours were not identical for the same kidney or for the same patient, indicating a 'field effect' that induces multiple independent clones. Conclusions: Although the genetic profiles of ACD-associated RCC showed some similarity to those of papillary RCC, ACD-associated RCC distinctly revealed frequent gains on chromosomes 3 and Y. ACD-associated RCC is characterized not only by its particular clinical setting and histology, but also by its unique immunohistochemical and molecular genetic profiles.

Original languageEnglish
Pages (from-to)145-153
Number of pages9
Issue number2
StatePublished - Aug 2009


  • Acquired cystic disease-associated renal cell carcinoma
  • Comparative genomic hybridization
  • Fluorescence in situ hybridization
  • Immunohistochemistry


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