Successful cytogenetic analysis was performed on 27 samples from 25 pa
tients with RCC, including 7 of 11 tumors studied and 20 cell lines. C
lonal chromosomal abnormalities were detected in all 27 samples. The m
ost frequently involved chromosomes were 7, 1, 3, 9, and the Y (20, 17
, 17, 14, and 10 cases, respectively). Polysomy 7 or rearrangement of
7q was seen in 80% (20/25) of the patients, and loss or rearrangement
of 3p was seen in 48% (12/25); of the latter, four patients had loss o
f the whole chromosome and 10 patients had deletions or translocations
involving 3p, with breakpoints at either 3p11-14 or 3p21-23 (5/7 tran
slocation breakpoints were at 3p21-23). Loss of the sex chromosomes wa
s seen in 15 patients, including -Y in 10/22 males. Other clonal chang
es included structural abnormalities of chromosome 1 centromere and th
e long arm, breakpoints at or near the centromere of chromosome 9 (10
patients), polysomy 16, monosomy 17, polysomy 20, and monosomy 22. Wit
h the exception of chromosome 3p loss, which was primarily confined to
the nonpapillary cases, no specific clonal abnormality was noted for
any particular subtype of RCC. Trisomy or tetrasomy 7 and -Y were seen
in all subtypes of renal cell carcinoma.