Trisomy 3 in renal cell carcinoma.

Abstract

Particular chromosomal aberrations have been associated with specific histologic types of renal cell carcinoma (RCC). To date, trisomy 3 has rarely been described, and this aberration has not been associated with any specific pathologic features. Herein, we report the cytogenetic analysis of 16 primary RCCs, including 8 papillary and 8 clear-cell primary tumors and 1 recurrent papillary tumor. Trisomies of chromosome 7 (7 of 8 tumors), 17 (7 of 8), 16 (7 of 8), and 20 (4 of 8) were frequent in primary papillary RCC, and deletions of chromosome 3p were detected in 7 of 8 clear-cell RCCs. Trisomy 3 was detected in five of eight papillary RCCs and was commonly associated with other trisomies. Trisomy 3 was an isolated finding in one of eight clear-cell RCCs. Four of five papillary RCCs with trisomy 3 had abundant intracytoplasmic hemosiderin, four of five were low grade, and all 5 were organ confined. The single clear-cell tumor with trisomy 3 had no other cytogenetic aberrations, also had abundant intracytoplasmic hemosiderin, and was also low grade and low stage. The recurrent papillary RCC did not have trisomy 3. We conclude that trisomy 3 is present in some RCCs and might be associated with low-grade, low-stage, papillary tumors with intracytoplasmic hemosiderin.