Identification of tumor entities of renal cell carcinoma using interphase fluorescence in situ hybridization

Abstract

Purpose: We developed a rapid interphase fluorescence in situ hybridization (FISH) test to differentiate renal cell carcinoma (RCC) based on known genetic alterations and verified the suitability of this test for practical use.

Materials and methods: We composed 2 FISH test sets using 6 centromere specific and 2 region specific DNA probes of human chromosomes. Test set 1 contained centromeric probes for chromosomes 1, 2, 6 and 9, as labeled by 4 fluorescence dyes. For test set 2 we chose 3p24pter and 3p13p14 regions, and centromeric probes of chromosomes 7 and 17. Interphase nuclei of tumor specimens were prepared from 50 mum frozen tissue sections and fixed on slides. The 2 sets were hybridized simultaneously side by side on the same slide.

Results: Seven clear cell carcinomas, 8 papillary carcinomas, 7 chromophobe RCCs and 3 oncocytomas were analyzed by interphase FISH. Results were compared with comparative genomic hybridization findings and pathological reports. Genetic alterations were detected in 22 of 25 analyzed tumors by FISH. FISH findings absolutely correlated with comparative genomic hybridization results. Of the analyzed carcinomas 22 could be identified correctly. In 3 tumors the histological subtypes were revised.

Conclusions: The results of this study demonstrate that the performed test set allows the accurate identification of RCC in 1 hybridization step. Therefore, FISH represents an effective method for the rapid classification of RCC.