Renal tumours bio-bank and molecular translational research

Background: Several studies have assessed the role of molecular and cytogenetic markers, especially in patients with clear cell renal cell carcinoma (ccRCC), with the intent of increasing the prognostic accuracy that is achievable with the classic clinical and pathologic features. Objective: The main purpose of the present study was to evaluate the potential role of loss of chromosomes 9p and 14q as predictors of the risk of recurrence in a cohort of patients who underwent partial nephrectomy (PN) or radical nephrectomy (RN) for nonmetastatic ccRCC. Design, setting, and participants: We evaluated the loss of chromosomes 9p and 14q in 175 patients who underwent PN or RN between 1990 and 2000 for nonmetastatic ccRCC. None of the patients received adjuvant treatment after surgery. Intervention: We performed an interphase cytogenetic fluorescence in situ hybridization analysis using a telomeric-specific probe (115 kb) mapping on the chromosome 9p and 14q telomeres (SpectrumGreen LSI, Abbott) and a centromeric (alpha-satellite DNA) probe mapping on chromosome 9p11-q11. Measurements: For each patient, we extracted from the database all of the most relevant clinical records. Disease-free survival (DFS) was the main outcome of the study. We generated different multivariable models with the intent of demonstrating the independent predictive role of cytogenetic abnormalities once adjusted for the effects of the most common tools used to stratify patients in ongoing phase 3 trials evaluating the efficacy of adjuvant therapies Results and limitations: No cytogenetic abnormalities were observed in 135 cases (77.1%), and loss of chromosome 9p or 14q was detected in 14 cases (8%) and 9 cases (5.1%), respectively. The contemporary presence of both cytogenetic alterations was reported in 17 cases (9.7%). The median follow-up duration was 36 months (interquartile range: 21–78). The simultaneous loss of both chromosomes 9p and 14q turned out to be an independent predictor of DFS, once adjusted for the effects of pT and nuclear grade (hazard ratio [HR]: 4.579; 95% confidence interval [CI], 1.767 11.868), Leibovich score (HR: 3.704; 95% CI, 1.565–8.768), or UCLA Integrated Staging System (UISS; HR: 3.194; 95% CI, 1.351–7.553). The most relevant limitation is the relatively small sample of evaluated patients. Conclusions: Loss of chromosomes 9p and 14q was an independent predictor of DFS in patients who underwent PN or RN for nonmetastatic ccRCC, once adjusted for the effects of either Leibovich score or UISS. This study demonstrates that the recurrence-free survival of patients suitable for adjuvant protocols could be strongly influenced by the cytogenetic characteristics of the tumor.