Cytogenetic and morphologic typing of papillary renal cell carcinomas: evidence for a cytogenetic evolution of type 2 from type 1 tumors

Gunawan, Bastian; Heydebreck, Anja von; Fritsch, T.; Huber, Wolfgang; Ringert, Rolf-Hermann; Jakse, G.; Füzesi, L.

doi:10.1016/s0344-0338(04)80586-7

Cited by 42 publications

(76 citation statements)

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“…The SNP array call rates obtained with the renal tumor samples are well within those accepted as adequate for copy number analysis in paraffin-embedded tissue with this technology (70-90% call rates), 19,29 and for reliable LOH analysis. 25 Furthermore, copy number aberrations and LOH detected by the SNP arrays were in agreement with the genetic abnormalities described in the literature for the different types of renal 6,30 This highlights the necessity of expanding the study to more renal cell tumors with whole genome analysis to define the frequency of this pattern in the papillary type 2 carcinoma group. It is important to note that the detection of copy number aberrations in tumors can be complicated by the presence of normal tissue (normal contamination), which can lead to false negatives.…”

Section: Discussionsupporting

confidence: 82%

Whole genome SNP arrays as a potential diagnostic tool for the detection of characteristic chromosomal aberrations in renal epithelial tumors

et al. 2008

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Renal tumors with complex or unusual morphology require extensive workup for accurate classification. Chromosomal aberrations that define subtypes of renal epithelial neoplasms have been reported. We explored if whole-genome chromosome copy number and loss-of-heterozygosity analysis with single nucleotide polymorphism (SNP) arrays can be used to identify these aberrations and classify renal epithelial tumors. We analyzed 20 paraffin-embedded tissues representing clear cell, papillary renal and chromophobe renal cell carcinoma, as well as oncocytoma with Affymetrix GeneChip 10K 2.0 Mapping arrays. SNP array results were in concordance with known genetic aberrations for each renal tumor subtype. Additional chromosomal aberrations were detected in all renal cell tumor types. The unique patterns allowed 19 out of 20 tumors to be readily categorized by their chromosomal copy number aberrations. One papillary renal cell carcinoma type 2 did not show the characteristic 7/17 trisomies. Clustering using the median copy number of each chromosomal arm correlated with histological class when using a restricted set of chromosomes. In addition, three morphologically challenging tumors were analyzed to explore the potential clinical utility of this method. In these cases, the SNP array-based copy number evaluation yielded information with potential clinical value. These results show that SNP arrays can detect characteristic chromosomal aberrations in paraffin-embedded renal tumors, and thus offer a high-resolution, genome-wide method that can be used as an ancillary study for classification and potentially for prognostic stratification of these tumors.

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Section: Discussionsupporting

confidence: 82%

Whole genome SNP arrays as a potential diagnostic tool for the detection of characteristic chromosomal aberrations in renal epithelial tumors

et al. 2008

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“…Among other histotypes various gains and losses of DNA sequence copy number have been found when comparing primary clear cell or papillary renal cell carcinomas and metastatic lesions. [39][40][41][42][43][44] The histochemical and immunohistochemical analyses showed results as expected, regarding the epithelial component. 23,45,46 Parvalbumin and CK7 showed immunoexpression in the chromophobic cells whereas vimentin was absent; Hale's colloidal iron stain was diffusely positive.…”

Section: Discussionmentioning

confidence: 61%

Chromosomal gains in the sarcomatoid transformation of chromophobe renal cell carcinoma

et al. 2007

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The hallmark of chromophobe renal cell carcinoma is multiple chromosomal losses from among chromosomes 1, 2, 6, 10 and 17. Chromophobe renal cell carcinoma with distant metastases or sarcomatoid transformation are uncommon and little is known about their chromosomal abnormalities. We collected six sarcomatoid chromophobe renal cell carcinomas and three primary chromophobe renal cell carcinomas with distant metastases. A cytogenetic analysis by fluorescent in situ hybridization on paraffin-embedded tissue was performed using centromeric probes for chromosomes 1, 2, 6, 10 and 17. We found more than one signal in four of six (66%) sarcomatoid chromophobe renal cell carcinomas, in both sarcomatoid and adjacent epithelial components. Both primary chromophobe renal cell carcinomas and matched metastases showed single signals for all chromosomes studied in two cases and no abnormalities in the remaining case. We concluded that: (1) both epithelial and sarcomatoid components of sarcomatoid chromophobe renal cell carcinoma show different genetic abnormalities from those characteristic of chromophobe renal cell carcinoma; (2) sarcomatoid chromophobe renal cell carcinomas frequently have multiple gains (polysomy) of chromosomes 1, 2, 6, 10 and 17; (3) distant metastases show the same genetic patterns, usually chromosomal losses (monosomy), found in the primary tumors. Keywords: sarcomatoid chromophobe renal carcinoma; metastases; FISH; cytogenetic Most chromophobe renal cell carcinomas are low stage, cured by surgery and have a relatively good prognosis. 1 Losses of chromosomes 1, 2, 6, 10 and 17 are frequent genetic abnormalities in both classic and eosinophilic chromophobe renal cell carcinomas. 2 Chromophobe renal cell carcinomas with distant metastases or sarcomatoid transformation are uncommon. [3][4][5][6] Most have been reported as single cases [7][8][9][10][11][12][13][14][15][16][17][18][19][20][21][22][23] and few cytogenetic data are available. 24 We sought to identify cytogenetic characteristics of sarcomatoid and metastatic chromophobe renal cell carcinomas by interphase fluorescence in situ hybridization (FISH) analysis. Materials and methods Tissue Samples, Histochemical and Immunohistochemical AnalysesWe collected six chromophobe renal cell carcinomas with sarcomatoid transformation and three primary chromophobe renal cell carcinomas with matched distant metastases. Two cases with sarcomatoid features were collected from the

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“…These chromosomal abnormalities occur early in the evolution of papillary renal cell neoplasia and are often associated with further gains of chromosomes 12, 16 and 20. 17,[23][24][25][26][27][28][34][35][36] The typical gains of chromosome 7 and 17 and loss of Y in papillary renal cell carcinomas have been observed in several FISH-based studies, and FISH analyses with centromeric probes for chromosomes 7, 17 and Y have been previously proposed to have a potential role in the differential diagnosis of papillary renal cell tumors with metanephric adenomas. 25,27,32,35,37 Furthermore, recent studies performed with multicolor FISH confirmed the typical chromosomal abnormalities described in papillary renal cell carcinomas and interphase FISH may be considered as a sensitive and specific technique for a rapid and accurate identification of distinctive genetic abnormalities, that are potentially useful in the distinction of the different histotypes of renal cell carcinomas.…”

Section: Discussionmentioning

confidence: 99%

Renal mucinous tubular and spindle carcinoma lacks the gains of chromosomes 7 and 17 and losses of chromosome Y that are prevalent in papillary renal cell carcinoma

et al. 2006

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Mucinous tubular and spindle cell carcinoma of the kidney is an uncommon, distinctive neoplasm characterized by the proliferation of cuboidal and spindle cells arranged in tubular or sheet-like arrays, typically with a mucinous or myxoid background. The most important differential diagnostic consideration of mucinous tubular and spindle cell carcinoma is papillary renal cell carcinoma, type 1, with sarcomatoid transformation. The aim of our study is to investigate the pattern of possible gains or losses of chromosomes 7, 17 and Y in 10 mucinous tubular and spindle cell carcinomas with interphase fluorescence in situ hybridization (FISH). Four-micron sections were obtained from paraffin blocks representative of the tumors and including adjacent non-neoplastic renal parenchyma from 10 patients. The patients' ages ranged from 20 to 80 years (mean: 62 years); eight were female, while two were male. FISH analysis was performed with centromeric probes for chromosomes 7, 17 and Y. One hundred fifty to 200 nuclei from each case were scored for hybridization signals and non-neoplastic parenchyma served as control tissue. We found that renal mucinous tubular and spindle carcinoma lacks the gains of chromosomes 7 and 17 and losses of chromosome Y that are typical of papillary renal cell carcinoma. FISH analysis with centromeric probes for these chromosomes is potentially helpful in differentiating mucinous tubular and spindle cell carcinomas from papillary renal cell carcinomas.

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Cytogenetic and morphologic typing of papillary renal cell carcinomas: evidence for a cytogenetic evolution of type 2 from type 1 tumors

Cited by 42 publications

References 0 publications

Whole genome SNP arrays as a potential diagnostic tool for the detection of characteristic chromosomal aberrations in renal epithelial tumors

Whole genome SNP arrays as a potential diagnostic tool for the detection of characteristic chromosomal aberrations in renal epithelial tumors

Chromosomal gains in the sarcomatoid transformation of chromophobe renal cell carcinoma

Renal mucinous tubular and spindle carcinoma lacks the gains of chromosomes 7 and 17 and losses of chromosome Y that are prevalent in papillary renal cell carcinoma

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