Renal cell carcinoma sub‐typing by histopathology and fluorescence in situ hybridization on a needle‐biopsy specimen

Abstract

accuracy of biopsies. Forty patients with renal masses underwent nephrectomy, yielding 42 tumours. Needle-core biopsies were taken of the mass immediately after surgery. Interphase FISH was performed on one core for chromosomes 3, 7, 10, 13, 17, and 21 and the locus 3p25-26. Histopathology was performed on a second core. Results were compared in a 'blinded' fashion with final pathology. RESULTSIn all, 36 of 42 masses were RCC or oncocytoma. Histopathology of the biopsy correctly identified the tumour subtype in 27 (75%), while four (11%) were incorrectly classified and five (14%) were inadequate for diagnosis. With the addition of FISH, 31 (86%) were correctly subtyped, while two (6%) were incorrect and three (8%) were inadequate. In cases with adequate tissue, histology alone was 87% accurate, while the combined method was 94% accurate. CONCLUSIONNeedle-core biopsy of renal tumours provides adequate material for evaluation of histological subtype. Adding FISH to histopathology might improve the accuracy of kidney tumour biopsies, providing important prognostic information that can guide management decisions.

Multilocular cystic renal cell carcinoma is a subtype of clear cell renal cell carcinoma

“…These losses have been reported in 70-90% of clear cell renal cell carcinomas and are rarely seen in other types of renal cell carcinoma. 11,26,27 One of the genes shown to be involved in the development of clear cell renal cell carcinoma is the von Hippel-Lindau (VHL) tumor suppressor gene located at the 3p25 chromosomal region. 28,29 It is consistently inactivated in both sporadic and hereditary clear cell renal cell carcinoma, most commonly by mutation of one allele followed by deletion of another allele, or less commonly by VHL gene mutations or promoter hypermethylation.…”

The application of cytogenetics and fluorescence in situ hybridization to fine‐needle aspiration in the diagnosis and subclassification of renal neoplasms

“…33 Accordingly, previous reports have illustrated that in some cases, FISH using bacterial artificial chromosome or cosmid probes can detect deletions in 3p to genetically establish a diagnosis of clear cell RCC. 34,35 In our series, karyotyping and/or FISH was successful in 44 of the 74 cases where a portion of the FNA was submitted for cytogenetic analysis. Specific, abnormal cytogenetic profiles were seen in 27 of these cases and the results were concordant with the cytomorphologic impression of the renal tumor except in 1 unusual case.…”

Diagnostic utility of S100A1 expression in renal cell neoplasms: an immunohistochemical and quantitative RT-PCR study

“…7,10,25 However, the diagnostically specific morphological features of tumors may not be appreciable in small samples and immunohistochemical analysis may be needed to support a definitive diagnosis. 8,9 Among calcium-binding proteins, the diagnostic utility of parvalbumin has already been demonstrated in distinguishing oncocytoma and chromophobe renal cell carcinoma from clear cell and papillary renal cell carcinomas.…”

“…7 Immunohistochemical analysis is becoming more frequently useful to narrow the differential diagnosis or to arrive at a definitive diagnosis. [8][9][10] Numerous immunohistochemical markers have been proposed for the subclassification of renal cell carcinomas, including 'RCC marker', CD10, and vimentin for clear cell renal cell carcinomas, c-kit for chromophobe renal cell carcinomas, and cytokeratin 7 and alpha-methyl-acyl-CoA racemase for papillary renal cell carcinomas. 8,9,11,12 Parvalbumin, a calcium-binding protein, has been demonstrated to be a useful marker in distinguishing oncocytoma and chromophobe renal cell carcinoma, from clear cell and papillary renal cell carcinomas.…”