Abstract
To investigate the possible role of genomic aberrations of chromosome 9p21‐22 in the tumorigenesis of human renal cell carcinoma (RCC), 10 RCC cell lines, 55 primary RCCs and 5 metastatic lesions were studied by Southern blotting and polymerase chain reaction‐based analysis. Nine of 10 RCC cell lines showed a homozygous deletion of MTS1/CDKN2/(p16), while only 1 in 55 primary tumors had this deletion. Loss of heterozygosity on 9p21‐22 was observed in 5 of 10 informative primary RCCs from patients with metastasis, but in only 4 of 31 informative tumors (13%) without metastasis (P= 0.025). Furthermore, 3 of 5 metastatic tumors (60%) showed hemi‐ or homozygous deletion of MTS1/CDKN2. These results indicate that the 9p21‐22 deletion may be a relatively late event in RCC tumorigenesis and could be associated with RCC metastasis.
Keywords: Renal cell carcinoma, Chromosome 9p21‐22, Loss of heterozygosity, Homozygous deletion, MTS1/CDKN2/(pl6)
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