End-stage kidney disease: gains of chromosomes 7 and 17 and loss of Y chromosome in non-neoplastic tissue

Abstract

The aim of this study was to determine the copy number changes of chromosomes 7, 17, 3p, and Y in a non-neoplastic tubular epithelium in end-stage kidney disease (ESKD). Seventeen kidneys from 11 patients with ESKD were retrieved from the archive files. Non-neoplastic kidney tissue in these cases was examined separately. Tissues containing papillary adenomas (PA), clear (CRCC) and papillary renal cell carcinomas (PRCC), and myxoid liposarcoma (LPS) were examined using the same probes and compared with non-neoplastic tissue. Tubular changes in the kidney parenchyma were classified into three types: (1) The vast majority of tubules were entirely atrophic; (2) Several tubules were hyperplastic, i.e., tubules with undifferentiated large epithelial cells, in which it was impossible to establish the specific type of a renal tubulus; (3) Dysplastic tubules were dilated, sometimes wrinkled. The basal membranes were lined by large eosinophilic epithelial cells with polymorphic nuclei and pseudostratification. Nucleoli were clearly visible. These tubular changes were multifocal with a haphazard distribution within the atrophic parenchyma. PA were detected in nine patients, of whom eight patients also revealed an additional tumor type(s) (4x CRCC, 3x PRCC, 1x PRCC, and CRCC). One patient had a CRCC only, another had a combination of PRCC and LPS. Chromosomal abnormalities were found in the second and third group of tubular changes, i.e., in hyperplastic and dysplastic tubules. Trisomy of chromosome 7 was detected in six cases, whereas trisomy of chromosome 17 in eight cases. A combination of both trisomies was found in five cases. Loss of chromosome Y was found in two cases. Fluorescence in situ hybridization on tissues containing papillary adenomas, renal cell carcinomas, and liposarcoma revealed expected results, i.e., trisomy of chromosomes 7 and 17 in all PAs and PRCC. No gains were present in CRCC and LPS. Loss of Y was found in six PA, five PRCC, and one LPS; loss of X was found in two CRCCs. We suggest that chromosomal changes typical of the papillary renal cell lesions, i.e., trisomies of chromosomes 7 and 17, are very frequent in non-neoplastic parenchyma of the end-stage kidney, and they have a tendency to a multifocal occurrence.

Renal cell carcinoma in patients with end‐stage renal disease: relationship between histological type and duration of dialysis

“…The above findings suggest that papillary adenoma could be a precursor lesion of RCCs arising from ESRD. This possibility has been further supported by the gain of chromosome 7 and 17 and loss of Y chromosome, a specific cytogenetic change in papillary adenoma, observed even in non‐neoplastic tissues of ESRD by FISH analyses [7]. Also, a recent study reported that papillary adenomas and RCC are strongly associated and might represent a continuum of one biological process [25].…”

“…Hes et al. [7] recently reported gain of chromosomes 7 and 17 and loss of the Y chromosome in non‐neoplastic tissues of ESRD by fluorescence in situ hybridization (FISH) analysis.…”

Gain of Chromosomes 1, 2, 7, 10, 13 and 17 in an Acquired Cystic Kidney Disease Associated Renal Cell Carcinoma

“…Atypical epithelial proliferations harbor some features of sporadic papillary RCC and therefore may represent early neoplastic lesions [10]. Even more, gains of chromosome 7 and 17 and loss of chromosome Y has been demonstrated in the hyperplasic and dysplastic tubules in non-neoplastic tissue of end-stage kidneys [11], which may contribute to the increased incidence of papillary RCCs in the patients with long-term hemodialysis. As we observed that calcium oxalate crystals were deposited in both non -neoplastic cysts and tumor, FISH for chromosome 1, 2, 7, 10, 13, and 17 were performed on both non-neoplastic renal cysts and tumor to see whether there were differences in chromosomal changes in these areas.…”

Detección de aneuploidías del cromosoma 17 y deleción del gen TP53 en una amplia variedad de tumores sólidos mediante hibridación in situ fluorescente bicolor

“…Estos resultados están dentro del rango de porcentajes informados en la literatura (18,21,22 (17,18,20,22). Lo anterior ha permitido sugerir que la monosomía del cromosoma 17 es una alteración común en los tumores sólidos y que podría considerarse como un marcador cromosómico recurrente.…”