Cytogenetics of a renal adenocarcinoma in a 2-year-old child

Fusion of splicing factor genes PSF and NonO (p54nrb) to the TFE3 gene in papillary renal cell carcinoma

“…However this possibility seems unlikely since the t(X;1)(p11.2;q21.2) and t(X;1)(p11.2;p34) translocations that result in these fusions were originally observed in cultures of primary tumor material (Kovacs et al, 1987;de Jong et al, 1986;Meloni et al, 1993;Mitelman, 1994;Dijkuizen et al, 1995;Tonk et al, 1995;Yoshida et al, 1995). In addition, we have directly detected alteration of the TFE3 gene in primary renal tumor material (DS and JS unpublished).…”

“…A high frequency of loss of chromosome Y and trisomy of chromosome 7 has, however, been reported in papillary RCC (Kovacs et al, 1987(Kovacs et al, , 1991Kovacs, 1993;van den Berg et al, 1993;Elfving et al, 1995) and a speci®c translocation between chromosomes X and 1, t(X;1)(p11.2;q21.2), has been identi®ed in cytogenetic studies (de Jong et al, 1986;Meloni et al, 1993;Mitelman, 1994;Shipley et al, 1995;Tonk et al, 1995). It has recently been shown (Sidhar et al, 1996;Weterman et al, 1996a, b) that this translocation results in the fusion of a novel chromosome 1 gene, called PRCC, to the chromosome X gene TFE3, which encodes a member of the basic-helix ± loop ± helix family of transcription factors originally identi®ed by its ability to bind to mE3 elements in the immunoglobin heavy chain intronic enhancer (Beckmann et al, 1990).…”

Distinct Xp11.2 breakpoints in two renal cell carcinomas exhibiting X;autosome translocations

“…Cytogenetic analysis revealed a t(X;l)(pl 1.2; q21) in five of ten cases (De Jong et al, 1986;Meloni et al, 1993), in two of them as the sole anomaly. This led to the conclusion that these tu mors might represent a new cytogenetic subtype of RCC, especially since this abnormality has never been described in any other malignancy.…”

Cytogenetic classification of renal cell cancer

“…1 about papillary RCC showing rearrangement of the critical 3p segment, at least at a molecular level [33,34], Several hum an renal cell carcinomas with X;autosome translocations have been reported in recent years (see for review [35]], The t(X;l)(pll.2;q21) appears to be a specific primary anomaly, suggesting that tumors with this translo cation form a distinct subgroup of chromophilic RCC, showing clear cell features. These tumors preferentially occur in male patients [36][37][38][39], although one female case has recently been described [40].…”