Chromosomal abnormalities in renal cell carcinoma variants detected by Urovysion fluorescence in situ hybridization on paraffin-embedded tissue

Michelle D. Reid-Nicholson, Nisrin Motiwala, Scott C. Drury, Stephen C. Peiper, Martha Kennedy Terris, Jennifer L Waller, Preetha Ramalingam

Research output: Contribution to journalArticle

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Abstract

Urovysion fluorescence in situ hybridization (UVFISH) identifies malignant cells in urine by detecting specific urothelial carcinoma-related chromosomal abnormalities. Some renal carcinomas (RCCs) share overlapping chromosomal aberrations with urothelial carcinoma. Malignant renal cells that are shed in urine can potentially cause a positive UVFISH result. We evaluated UVFISH in RCCs to determine its potential applicability to the diagnosis and grading of RCCs. Paraffin blocks from 39 RCCs (25 clear cell, 9 papillary, 2 chromophobe, and 3 sarcomatoid) and 15 controls (5 renal oncocytomas and 10 urothelial carcinomas) were tested. Of the RCCs, 15 (40%) were UVFISH-positive (9/25 [40%] clear cell, 3/9 [30%] papillary, 1/2 [50%] chromophobe, and 2/3 [67%] sarcomatoid carcinoma) and 24 (60%) were negative. Of the 15 controls, 8 (∼50%) were UVFISH-positive (2/5 [40%] oncocytomas and 6/10 [60%] urothelial carcinomas) and 7 (∼50%) were UVFISH-negative. Polysomy of chromosome 17 showed a statistically significant correlation with RCC subtype, being absent in most of the clear cell RCCs (P = .0096) compared with other RCCs. Polysomy of chromosome 7 was more frequent in high-grade than low-grade RCC (P = .0197) and more likely in high-grade clear cell than low-grade clear cell RCC (P = .0120). In conclusion, we showed that RCC has overlapping chromosomal abnormalities with urothelial carcinoma and can cause a positive UVFISH result. This has implications for the interpretation of Urovysion in patients whose urine contains malignant cells but who have negative cystoscopy and a concomitant renal mass. The chromosomal abnormalities observed in RCC are not distinct from those in urothelial carcinoma; therefore, UVFISH cannot distinguish these tumor types, nor can it type or grade RCC.

Original languageEnglish (US)
Pages (from-to)37-45
Number of pages9
JournalAnnals of Diagnostic Pathology
Volume15
Issue number1
DOIs
StatePublished - Feb 1 2011

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Fluorescence In Situ Hybridization
Renal Cell Carcinoma
Chromosome Aberrations
Paraffin
Carcinoma
Kidney
Urine
Oxyphilic Adenoma
Chromosomes, Human, Pair 17
Cystoscopy
Chromosomes, Human, Pair 7

Keywords

  • Renal cell carcinoma
  • Urovysion FISH

ASJC Scopus subject areas

  • Pathology and Forensic Medicine

Cite this

Chromosomal abnormalities in renal cell carcinoma variants detected by Urovysion fluorescence in situ hybridization on paraffin-embedded tissue. / Reid-Nicholson, Michelle D.; Motiwala, Nisrin; Drury, Scott C.; Peiper, Stephen C.; Terris, Martha Kennedy; Waller, Jennifer L; Ramalingam, Preetha.

In: Annals of Diagnostic Pathology, Vol. 15, No. 1, 01.02.2011, p. 37-45.

Research output: Contribution to journalArticle

Reid-Nicholson, Michelle D. ; Motiwala, Nisrin ; Drury, Scott C. ; Peiper, Stephen C. ; Terris, Martha Kennedy ; Waller, Jennifer L ; Ramalingam, Preetha. / Chromosomal abnormalities in renal cell carcinoma variants detected by Urovysion fluorescence in situ hybridization on paraffin-embedded tissue. In: Annals of Diagnostic Pathology. 2011 ; Vol. 15, No. 1. pp. 37-45.
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abstract = "Urovysion fluorescence in situ hybridization (UVFISH) identifies malignant cells in urine by detecting specific urothelial carcinoma-related chromosomal abnormalities. Some renal carcinomas (RCCs) share overlapping chromosomal aberrations with urothelial carcinoma. Malignant renal cells that are shed in urine can potentially cause a positive UVFISH result. We evaluated UVFISH in RCCs to determine its potential applicability to the diagnosis and grading of RCCs. Paraffin blocks from 39 RCCs (25 clear cell, 9 papillary, 2 chromophobe, and 3 sarcomatoid) and 15 controls (5 renal oncocytomas and 10 urothelial carcinomas) were tested. Of the RCCs, 15 (40{\%}) were UVFISH-positive (9/25 [40{\%}] clear cell, 3/9 [30{\%}] papillary, 1/2 [50{\%}] chromophobe, and 2/3 [67{\%}] sarcomatoid carcinoma) and 24 (60{\%}) were negative. Of the 15 controls, 8 (∼50{\%}) were UVFISH-positive (2/5 [40{\%}] oncocytomas and 6/10 [60{\%}] urothelial carcinomas) and 7 (∼50{\%}) were UVFISH-negative. Polysomy of chromosome 17 showed a statistically significant correlation with RCC subtype, being absent in most of the clear cell RCCs (P = .0096) compared with other RCCs. Polysomy of chromosome 7 was more frequent in high-grade than low-grade RCC (P = .0197) and more likely in high-grade clear cell than low-grade clear cell RCC (P = .0120). In conclusion, we showed that RCC has overlapping chromosomal abnormalities with urothelial carcinoma and can cause a positive UVFISH result. This has implications for the interpretation of Urovysion in patients whose urine contains malignant cells but who have negative cystoscopy and a concomitant renal mass. The chromosomal abnormalities observed in RCC are not distinct from those in urothelial carcinoma; therefore, UVFISH cannot distinguish these tumor types, nor can it type or grade RCC.",
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