Immunohistochemical and molecular genetic profiling of acquired cystic disease‐associated renal cell carcinoma

Pan, Chin Chen; Chen, Yann Jang; Chang, Liang Che; Chang, Yen; Ho, Donald Ming Tak

doi:10.1111/j.1365-2559.2009.03361.x

Cited by 68 publications

(37 citation statements)

References 22 publications

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“…The FISH reaction was performed as previously described. 19 FISH was performed with telomeric DNA probes for chromosome 19p (conjugated with Texas red) and chromosome 19q (conjugated with fluorescein isothiocyanate). FISH using centromeric probes for chromosome 7 (conjugated with Texas red) and chromosome 17 (conjugated with fluorescein isothiocyanate) was run in parallel.…”

Section: Fish Analysismentioning

confidence: 99%

Detection of chromosome copy number alterations in metanephric adenomas by array comparative genomic hybridization

Pan

Epstein

2010

Modern Pathology

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Metanephric adenoma is a rare benign renal tumor typically found in adults. Previous cytogenetic analyses, including karyotyping, fluorescence in situ hybridization (FISH), and comparative genomic hybridization, have yielded conflicting results regarding the somatic genetic aberrations of these tumors. In this study, we investigated the genomic profile of nine cases of metanephric adenoma using array comparative genomic hybridization. Two cases revealed multiple chromosomal gains and losses. Three cases showed sporadic chromosomal imbalances involving no more than three chromosomes. Four cases showed normal chromosome copy numbers. The gain of chromosome 19 was the most common finding (five cases), and FISH using 19p and 19q telomeric probes further confirmed this finding. We did not observe consistent gains of chromosomes 7 and 17, which are common in papillary renal cell carcinoma, neither did we find chromosomal alterations frequently present in Wilms' tumors, including chromosome gains of 1q, 7q, and 12, and losses of 11p and 16q. Our series demonstrates that the genetic profile of metanephric adenoma is fundamentally distinct from those of papillary renal cell carcinoma and Wilms' tumor. Modern Pathology (2010) 23, 1634-1640; doi:10.1038/modpathol.2010.162; published online 27 August 2010Keywords: array comparative genomic hybridization; fluorescence in situ hybridization; metanephric adenoma On the basis of the WHO classification of renal tumors, metanephric tumors comprise metanephric adenomas, metanephric adenofibromas, and metanephric stromal tumors, 1 with each of these having its own characteristic clinicopathological presentation. Metanephric adenoma is defined as a highly cellular epithelial tumor composed of small, uniform, and embryonic-appearing cells. The tumor occurs most commonly in patients in their 50s and 60s, with a female preponderance. Although the vast majority of metanephric adenomas behave in a benign fashion, cases of regional lymph node metastasis and sarcomatoid changes have been individually reported. [2][3][4] The morphological and immunohistochemical characteristics of metanephric adenomas have been well described. 5-7 However, cytogenetic or molecular genetic data about this rare tumor are limited and have mostly been reported for single cases. Previous karyotyping of a total of five cases revealed negative findings, with the exception of a dual balanced translocation of t(1;22)(q22;13) and t(15;16)(q21;p13) in one case. 5,[8][9][10][11][12] One fluorescence in situ hybridization (FISH) study indicated gain of chromosomes 7 and 17 and loss of Y chromosome-the cytogenetic markers of papillary renal cell carcinoma-in 8 of 11 metanephric adenomas. 13 However, subsequent FISH analyses revealed normal copy numbers for chromosomes 7 and 17. 4,8,11,14,15 A deletion in chromosome 2p was the only genetic abnormality described in one tumor, and a tumor suppressor gene region on 2p13 was delineated. 16,17 Most recently, a study employing array comparative genomic hybridization (aCGH) repo...

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Section: Fish Analysismentioning

confidence: 99%

Detection of chromosome copy number alterations in metanephric adenomas by array comparative genomic hybridization

Pan

Epstein

2010

Modern Pathology

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“…In a few preliminary studies, calcium oxalate-associated RCC displays nonrandom chromosomal gains clustering on chromosomes 1, 2, 3, 6, 7, 16, 17, and Y. 22,23 This genetic profile is distinct from those of the types of RCC recognized in the current classification of renal cell neoplasms. In a study of 30 ACKD-associated RCCs, Sule et al found that 7 were of calcium oxalate type and 23 of other histologic types.…”

Section: Renal Neoplasms In Ackdmentioning

confidence: 97%

Renal Cell Carcinoma With Calcium Oxalate Deposition

Zamin-Khameh

Zhai

Truong

2010

Pathology Case Reviews

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Cystic changes may develop in kidneys of patients with end-stage renal disease treated with long-term dialysis, a condition termed acquired cystic kidney disease. Renal neoplasms frequently develop in this process and they display a wide morphologic spectrum encompassing all of the usual renal tumors. However, one histologic type among them, characterized by tumoral deposition of calcium oxalate crystals, is seen only in the context of acquired cystic kidney disease. This communication reports one such tumor and reviews the clinicopathologic features of acquired cystic kidney disease and the renal neoplasms associated with this condition, with special emphasis on the particular renal cell carcinoma associated with tumoral calcium oxalate deposition.

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“…Une positivité pour le CD10, RCC et CD57 (RCC étant une glycoprotéine exprimé dans les cellules des tubes proximaux, CD57 étant un marqueur habituellement positif dans les adénomes métanéphriques) a été rapportée, néanmoins le diagnostic se fait sans profil immuno-histochimique spé-cifique. Des études cytogénétiques ont mis en évidence des gains de chromosome 7 et/ou 17, ainsi que des gains de Chr 3, et Y [10,11].…”

Section: Carcinome Rénal Associé à Une Maladie Rénale Kystique Acquiseunclassified

Les tumeurs rénales : recommandations de la conférence de consensus de l’International Society of Urologic Pathology (ISUP) 2012

Rioux‐Leclercq

Algaba

Amin

et al. 2014

Annales de Pathologie

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Immunohistochemical and molecular genetic profiling of acquired cystic disease‐associated renal cell carcinoma

Cited by 68 publications

References 22 publications

Detection of chromosome copy number alterations in metanephric adenomas by array comparative genomic hybridization

Detection of chromosome copy number alterations in metanephric adenomas by array comparative genomic hybridization

Renal Cell Carcinoma With Calcium Oxalate Deposition

Les tumeurs rénales : recommandations de la conférence de consensus de l’International Society of Urologic Pathology (ISUP) 2012

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