Chromosomal changes in renal oncocytomas Evidence that t(5;11)(q35;q13) may characterize a second subgroup of oncocytomas

Cytogenetic classification of renal cell cancer

“…Both transitional cell RCCs and neuroendocrine RCCs are not mentioned in Figure 1. RCAs of the oncocytic type seem to be characterized by mitochondrial DNA changes [48,49], a feature they share with the chromophobic carcinomas, At least two subgroups can be distinguished: one character ized by translocations involving llq l3 [50] and one by the combination of -Y, -1 [51,52]. Loss of chromosomes 1 and Y is also observed in chromophobic carcinomas, From a cytogenetic point of view, oncocytomas showing -Y, -1 might progress to chromophobic carcinomas through addi tional chromosome losses (see Figure 1].…”

Fine Mapping of the Human Renal Oncocytoma-Associated Translocation (5;11)(q35;q13) Breakpoint

“…This phenotype, however, also can be found in some of the malignant neo plasms of the kidney such as the granular and chromopho bic variants of renal cell carcinomas [2], Although long term follow-up studies have shown that oncocytomas do not metastasize, several reports indicate the invasive potential of these tumors [3][4][5]. Preliminary cytogenetic studies performed on a limited series of renal oncocyto mas have revealed a heterogeneous chromosomal constitu tion [3,[5][6][7] Basically, two subgroups can be distinguished: [1) those with numerical anomalies, including -Y and -1 [8][9][10]; and (2) those with recurring structural anomalies, in particular t(5;ll)(q35;ql3) [11,12] or variants thereof [13][14][15]. The t(5;ll)(q35;ql3) has been observed as sole cytogenetic anomaly in at least 3 independent cases and, as such, should be considered as a primary change.…”

Renal oncocytoma with t(5;12;11), der(1)t(1;8) and add(19): “true” oncocytoma or chromophobe adenoma?

“…The only case of malignant oncocytoma for which cytogenetic data have been provided revealed a 44,X,-Y,-1 chromosomal pattern (Psihramis et al, 1988), which is in agreement with the proposed malignant potential of tumors exhibiting loss of chromosomes 1 and X/Y. Clinical follow-up has not been provided for the cases with 11q13 translocations published thus far, but the 2 patients with t(5;11)-positive oncocytomas published by van den Berg et al (1995) are currently alive without evidence of disease after 46 and 96 months, respectively. In addition, to our knowledge, no (5;11) or (9;11) translocations have been described in chromophobe carcinomas or in other RCC subtypes.…”

“…Cytogenetic analysis of renal oncocytomas has revealed a variety of chromosomal patterns, suggesting the existence of distinct subsets (Psihramis et al, 1988;Crotty et al, 1992;Dobin et al, 1992;Meloni et al, 1992;Kovacs, 1993;van den Berg et al, 1995;Dal Cin et al, 1996). At least 2 genetically defined subsets appear to emerge, characterized by (1) the combined loss of chromosomes 1 and X/Y and (2) translocations involving chromosome 11 with breakpoint 11q13.…”