FIGURE 3.

Chromosomal analysis of the UOK276 cell line. (A) Spectral karyotyping (SKY) analysis of the UOK276 cell line defined the cells as hyper-diploid, with a modal number of 49 chromosomes per cell, and identified balanced translocations between chromosomes 8 and X, t(X;8)(q26;q24), and chromosomes 18 and 22, t(18;22)(p11.2;q11.2). This does not represent the usual ChRCC hypo-diploid karyotype that is associated with single copy losses of chromosomes 1, 2, 6, 10, 13, and 17. Notably, all derivative chromosomes were present in duplicate and no wild-type, unaltered versions of chromosomes 18 or 22 were observed. This suggests a history of chromosome loss followed by an event resulting in chromosome duplication that is consistent with previous reports of the chromosomal pattern in sarcomatoid ChRCC. (B) Short tandem repeat (STR) analysis of the patient’s blood demonstrated varied, informative signals for 11 out of 15 of the highly variable repeat regions. The UOK276 cell line demonstrated loss of heterozygosity in 10 out of 11 informative variable repeat regions without loss of chromosomal number. The SKY analysis of UOK276 showed retention of both the wild-type and derivative chromosomes and the STR marker on chromosome 8 was the only one to show two signal in both the cell line and the patient’s blood. This loss of variation is also consistent with a history of chromosome loss followed chromosome duplication of the remaining single chromosome.