Oligoarray comparative genomic hybridization of renal cell tumors that developed in patients with acquired cystic renal disease

• Published in: Human pathology Vol. 41; no. 9; pp. 1345 - 1349
• Main Authors: Kuntz, Eva, MD, Yusenko, Maria V., PhD, Nagy, Anetta, MD, Kovacs, Gyula, MD, PhD, DSc, FRCPath
• Format: Journal Article
• Language: English
• Published: New York, NY Elsevier Inc 01-09-2010; Elsevier; Elsevier Limited
• Subjects: Acquired cystic renal disease; Aged; Biological and medical sciences; Carcinoma, Renal Cell - complications; Carcinoma, Renal Cell - genetics; Carcinoma, Renal Cell - pathology; Chromosomes; Clear cells; Comparative Genomic Hybridization; Deoxyribonucleic acid; DNA; DNA Mutational Analysis; DNA, Neoplasm - analysis; Gene Deletion; Gene Expression Profiling; Genes; Genetics; Humans; Investigative techniques, diagnostic techniques (general aspects); Kidney Diseases, Cystic - complications; Kidney Diseases, Cystic - genetics; Kidney Diseases, Cystic - pathology; Kidney Neoplasms - complications; Kidney Neoplasms - genetics; Kidney Neoplasms - pathology; Kidneys; Male; Medical sciences; Middle Aged; Mutation; Nephrectomy; Nephrology. Urinary tract diseases; Oligoarray CGH; Oligonucleotide Array Sequence Analysis; Pathology; Pathology. Cytology. Biochemistry. Spectrometry. Miscellaneous investigative techniques; Renal cell carcinoma; Tumors of the urinary system; VHL mutation; Von Hippel-Lindau Tumor Suppressor Protein - genetics; Germany; Oligoarray CGH; VHL mutation; Renal cell carcinoma; Acquired cystic renal disease; Human; Kidney disease; Urinary system disease; Carcinoma; Acquired; Kidney tumor; Cystic disease; Malignant tumor; Gene expression; Anatomic pathology; Nephropathy; Comparative genomic hybridization; Kidney cancer; Genetics; Grawitz tumor; Mutation; Cell; Cancer
• ISSN: 0046-8177; 1532-8392
• DOI: 10.1016/j.humpath.2009.09.022

Summary Renal cell carcinoma occurs at higher frequency in acquired cystic renal disease than in the general population. We have analyzed 4 tumors obtained from the kidneys of 2 patients with acquired cystic renal disease, including 2 conventional renal cell carcinomas and 2 acquired cystic renal disease–associated tumors, for genetic alterations. DNA changes were established by applying the 44K Agilent Oligonucleotide Array-Based CGH (Agilent Technologies, Waldbronn, Germany), and mutation of VHL gene was detected by direct sequencing of the tumor genome. DNA losses and mutation of the VHL gene, which are characteristic for conventional renal cell carcinomas, were seen in 2 of the tumors. The acquired cystic renal disease–associated eosinophilic-vacuolated cell tumor showed gain of chromosomes 3 and 16. No DNA alterations occurred in the papillary clear cell tumor. We suggest that not only the morphology but also the genetics of renal cell tumors associated with acquired cystic renal disease may differ from those occurring in the general population.