Monosomy of Chromosome 9 is Associated with Higher Grade, Advanced Stage and Adverse Outcome in Clear Cell Renal Cell Carcinoma

Abstract The objective of the study was to evaluate the frequency and the outcomes of whole chromosome 9 loss in 103 patients with clear cell renal cell carcinoma (ccRCC) using Single nucleotide polymorphism-based chromosome microarray (CMA) analysis. Our study, demonstrated chromosome 9 loss is associated with higher grade, advanced stage and poor outcome in ccRCC and can potentially be used as a major prognostic predictor in ccRCC patients. Background ccRCC is one of the most common malignancies in humans and is usually associated with poor outcomes. Cancers are considered to be genetic diseases. Therefore, a better understanding of genetic alterations that are related to disease progression or poor prognosis can help to more precisely identify high-risk patients and treat them more effectively. The aim of this study was to examine the frequency of whole chromosome 9 loss (monosomy of chromosome 9) and its prognostic value in patients with ccRCC. METHODS Single nucleotide polymorphism-based CMA analysis was performed on 103 resected specimens from ccRCC patients who had undergone partial or radical nephrectomy between January 2002 and March 2017 at Fox Chase Cancer Center (FCCC). Monosomy 9 was correlated with clinicopathological parameters and recurrence-free survival. RESULTS Chromosome 9 loss was detected in 31 out of 103 tumors (30%). Tumors with chromosome 9 loss had higher histologic grade (3 and 4, p CONCLUSIONS Chromosome 9 loss was found in 30% of ccRCC patients and correlated with higher grade, advanced stage and shorter RFS in patients with Stage I-III ccRCC.