Diagnostic Usefulness of Fluorescent Cytogenetics in Differentiating Chromophobe Renal Cell Carcinoma From Renal Oncocytoma

Abstract

We investigated the usefulness of interphase fluorescence in situ hybridization (FISH) analysis to differentiate between 11 chromophobe renal carcinomas and 12 renal oncocytomas, showing different clinical outcomes, when compared with conventional metaphase cytogenetics by karyotyping. Karyotypically, 3 chromophobe renal cell carcinomas showed losses of chromosomes, 3 were polyploid, 1 was normal, and 4 failed to grow. Of 12 oncocytomas, 5 showed a normal numeric karyotype and 6 additional structural rearrangements. FISH on chromophobe renal cell carcinomas showed a high percentage of cases (10/11 [91%]) with multiple numeric losses among chromosomes 1, 2, 6, 10, and 17; this interphase pattern was observed irrespective of the 3 different metaphase karyotypes. Of 12 oncocytomas, 11 (92%) revealed a normal numeric chromosomal status showing at least 2 chromosomes without aneusomy by interphase FISH. The study demonstrates that indeed FISH performed on formalin-fixed, paraffin-embedded tissue can provide clinically useful information more reliably than karyotyping of most of these tumors.

Genetic alterations of HER genes in chromophobe renal cell carcinoma

“…However, due to the limited sample size of the present study, cases from previous studies were combined and reviewed with the present data for additional analysis. Similar phenomena, including the monosomy of chromosomes 2 (mean % of cell population, 59%; range, 4-89%) and 17 (mean % of cell population, 67%; range, 10-94%) in chRCC cases were observed (Table V) (21,22). At present, the strong correlation between the loss of the HER2 and HER4 genes (P=0.019) has only been observed in chRCC, and not in other subtypes of RCC; and, although the underlying reasons for chRCC cell proliferation or tumoral development remain unknown, this finding may be considered to be a valuable diagnostic or treatment marker to distinguish chRCC from other RCC subtypes.…”

Handling and reporting of nephrectomy specimens for adult renal tumours: a survey by the European Network of Uropathology

“…Although the classification of the tumours in the WHO classification is based upon morphological criteria, virtually all participants utilised immunohistochemical staining, at least occasionally. Despite the evidence that FISH is an important diagnostic adjunct for some renal tumours,26 27 this was rarely employed.…”

Mitochondria with Tubulovesicular Cristae in Renal Oncocytomas

“…[16,17]. Differentiated gene abnormalities [18], transcription factor expression [19], and microRNa profiles are currently being described in human kidney tumors [20]. Despite of these advances and since the detailed description of Thoenes et al [21] of the ultrastructural appearance of renal tumors, electron microscopy continues to be an easy to perform, low-cost, and useful tool in the diagnosis of kidney tumors [22][23][24].…”