Abstract
BackgroundDeletions of 17p13 recurrently occur in renal cell carcinoma (RCC) but their prognostic role seems to be uncertain.MethodsTo determine prevalence, relationship with tumor phenotype, and patient prognosis, a tissue microarray containing samples from 1809 RCCs was evaluated using dual labeling fluorescence in situ hybridization (FISH) with 17p13 and chromosome 17 centromere probes.ResultsA 17p13 deletion was found in 72 of 1429 interpretable tumors. The frequency of 17p13 deletions varied greatly between RCC subtypes and was highest in chromophobe RCC (24/72; 33.3%). 17p13 deletions were also found in 35 (3.7%) of 946 clear cell RCC, 9 (4.3%) of 208 papillary RCC, 1 of 121 oncocytomas (0.8%), as well as in several rare cases of comprising 1 of 7 Xp11.2 translocation cancers, 1 of 3 collecting duct carcinomas, and 1 of 20 not otherwise specified (NOS) carcinomas. In clear cell carcinomas, 17p13 deletions revealed a strong and consistent association with higher Fuhrman, ISUP, and Thoenes grade (p < 0.0001 each), and linked to advanced tumor stage (p = 0.0168), large tumor diameter (p = 0.0004), distant metastases (p = 0.0077), cancer-specific survival (p = 0.0391), and recurrence-free survival (p = 0.0072). In multivariate analysis, 17p13 deletions showed in clear cell RCC a dependent prognostic role for established clinical-pathological parameters.Conclusion17p13 deletions have a dual role in RCC. They are associated with disease progression in clear cell RCC and possibly other subtypes and they are linked to the development of chromophobe RCC—a subtype with a particularly favorable prognosis.
Highlights
Renal cell carcinoma (RCC) is the 9th most common tumor worldwide [1]
The frequency of 17p13 deletions was markedly higher in chromophobe carcinomas (24/72, 33.3%) as compared to clear cell renal cell carcinoma (RCC) (35/946, 3.7%) and papillary RCC (9/208, 4.3%). 17p13 deletion was present in only one oncocytoma (1/121, 0.8%) and was not seen in 24 clear cell tubulo-papillary RCCs (Table 1). 17p13 deletion was found in rare subtypes such as in collecting duct carcinomas (1/3, 33%), Xp11.2 translocation RCC (1/7, 14%), and in not otherwise specified tumors (1/20, 5%) (Table 1)
In papillary and chromophobe RCC, 17p13 deletions were unrelated to tumor phenotype and tumor diameter (Table 3)
Summary
Relationship with tumor phenotype, and patient prognosis, a tissue microarray containing samples from 1809 RCCs was evaluated using dual labeling fluorescence in situ hybridization (FISH) with 17p13 and chromosome 17 centromere probes
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