Trisomy 7 and 17 mark papillary renal cell tumours irrespectively of variation of the phenotype

Bálint, Ildikó; Szponar, Adrianna; Jauch, Anna; Kovács, Gyula

doi:10.1136/jcp.2009.066423

Cited by 29 publications

(27 citation statements)

References 19 publications

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“…Noteworthy, some authors considered the chromosome 7 alterations more likely to be seen in type I pRCC (37), as 17q gain and 9p loss are specific features of type I and II, respectively (38). On the contrary, other reports considered chromosome 7 trisomy as shared by all pRCC subtypes irrespectively of grade, size, and hereditary versus sporadic presentation (39)(40)(41)(42). More interestingly, patients with MET mutations, either inherited or somatic, were reported to present allelic imbalanced duplication on 7q of the mutated allele (43,44), drawing the hypothesis that both events are required for oncogenic transformation in hereditary and somatic MET mutant pRCC.…”

Section: Discussionmentioning

confidence: 92%

MET Is a Potential Target across All Papillary Renal Cell Carcinomas: Result from a Large Molecular Study of pRCC with CGH Array and Matching Gene Expression Array

Albigès

Guégan

Formal

et al. 2014

Clinical Cancer Research

150

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Purpose: Papillary renal cell carcinomas (pRCC) are the most common nonclear cell RCC subtype. Germline mutations of the MET oncogene at 7q31 have been detected in patients with hereditary type I pRCC and in 13% of sporadic type I pRCC. Recent report of MET inhibition strengthened the role of c-Met inhibition across pRCC.Experimental Design: We collected 220 frozen samples of sporadic pRCC through the French RCC Network and quality controlled for percentage of malignant cells >70%. Gene expression was assessed on 98 pRCC using human whole-genome Agilent 8 Â 60K arrays. Copy number alterations were analyzed using Agilent Human 2 Â 400K and 4Â 180K array for type II pRCC and comparative genomic microarray analysis method for type I pRCC. MET gene sequencing was performed on type I pRCC.Results: MET expression level was high across all pRCC. We identified copy number alterations (gain) in 46% of type II pRCC and in 81% of type I pRCC. Correlation between DNA copy number alterations and mRNA expression level was highly significant. Eleven somatic mutations of MET gene were identified amongst 51 type I pRCC (21.6%), including 4 new mutations. We validated LRRK2 cokinase as highly correlated to MET expression.

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Section: Discussionmentioning

confidence: 92%

MET Is a Potential Target across All Papillary Renal Cell Carcinomas: Result from a Large Molecular Study of pRCC with CGH Array and Matching Gene Expression Array

Albigès

Guégan

Formal

et al. 2014

Clinical Cancer Research

150

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“…Gains of chromosomes 7, 17 and loss of chromosome Y have been described as characteristic of papillary renal neoplasms, 12 and only very rare tumours were reported to lack these marker changes. 13 The centromeric probes identified none of the characteristic chromosomal changes, in keeping with their lower incidence in type 2 papillary RCC.…”

Section: Discussionmentioning

confidence: 93%

Papillary renal cell carcinoma embedded in an oncocytoma: Case report of a rare combined tumour of the kidney

Sejben

Szabó

Lukács

et al. 2013

CUAJ

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case report E513Cite as: Can Urol Assoc J 2013;7(7-8):e513-6. http://dx.doi.org/10.5489/cuaj.414 Published online on July 2, 2013. AbstractAn asymptomatic 1-cm large papillary renal cell carcinoma (RCC) embedded in a 3.5-cm large oncocytoma was diagnosed and removed by right nephrectomy in a 68-year-old male investigated for the abdominal symptoms associated with cholelithiasis. The papillary RCC displayed positive immunohistochemical stainings with cytokeratin 7, alpha-methylacyl-CoA racemase and vimentin and was negative for the E-cadherin and CD117 immunostains, whereas the oncocytoma part showed opposite staining patterns. No gains of chromosomes 7 and 17 or loss of chromosome Y was detected in the papillary carcinoma by fluorescent in situ hybridization with centromeric enumeration probes. This finding is in keeping with the morphologic diagnosis of type 2 papillary RCC reported to have lower rates of these characteristic chromosomal changes. The combination of papillary RCC and oncocytoma, two tumours of different postulated origin, is extremely rare. It may represent a simple coincidence, but 2 previous cases and our current one share a few features, including the intimate embedment of the papillary RCC in the oncocytoma, the small size of the RCC and the old age of the patients. This case raises the point that renal oncocytomas can contain a hidden malignant tumour. IntroductionRenal cell neoplasms are supposed to derive from or show differentiation toward different parts of the renal epithelium, as highlighted by immunohistochemical staining patterns and differential expression of some marker proteins.1-3 There are reports on renal tumours with hybrid features between chromophobe renal cell carcinoma (RCC) and oncocytoma, both thought to arise from the distal tubular epithelium. 4 Sometimes RCC arises within an oncocytoma. 5 However, the combination of oncocytoma and papillary RCC, 2 renal neoplasms of different origin, is very rare. 6,7 We present a case of an unusual combination of these 2 tumours, a papillary RCC buried in an oncocytoma. Case reportA 68-year-old male with long-standing hypertension was admitted to our hospital because of right upper abdominal pain. Abdominal ultrasound and computerized tomography (CT) revealed a thick-walled gallbladder with common bile duct stones and a 4-cm mass in the upper pole of the right kidney (Fig. 1). The clinical diagnosis of choledocholithiasis associated with acute cholecystitis and a renal tumour were established. After endoscopic sphincterotomy, the symptoms related to the common bile duct stone vanished and the patient underwent right nephrectomy.The nephrectomy specimen was fixed in 10% neutral buffered formalin for 36 hours. We embedded 3-mm-thick representative tissue sections in paraffin wax and sections of 4 to 5 µm were cut and stained with hematoxylin and eosin (H&E) for light microscopy. The primary antibodies used for immunohistochemistry are shown in Table 1. ResultsThe parenchymal tumour in the nephrectomy specimen was circumscribed, homoge...

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“…The vast majority of MTSCC cells resemble those of the Henle loop, but sometimes, they differentiate into cells with more abundant cytoplasm corresponding to other parts of the tubulary system or grow in papillary formations [13]. In pRCTs solid, tubulary and papillary structures of small blastema-like cells towards large differentiated cells resembling mature proximal tubular cells may be seen [14]. Metanephric adenomas (MAs) display small tubular structures or sometimes papillary structures of small, undifferentiated blastema-like cells frequently seen in hyperplastic nephrogenic rests and in some areas of Wilms' tumours.…”

Section: Discussionmentioning

confidence: 97%

Expression of KRT7 and WT1 differentiates precursor lesions of Wilms’ tumours from those of papillary renal cell tumours and mucinous tubular and spindle cell carcinomas

Szponar

Kovács

2012

Virchows Arch

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Wilms' tumours (WT) and adult papillary renal cell tumours (pRCT) are associated with precursor lesions of embryonic origin. The aim of this study was to analyse the expression of WT1, KRT7, KRT8, KRT18 and KRT19 genes by immunohistochemistry in 74 precursor lesions associated with WTs, pRCTs and mucinous tubular and spindle cell carcinomas (MTSCC). All precursor lesions associated with Wilms' tumours were positive for WT1, whereas all precursor lesions in pRCT and MTSCC-bearing kidneys were negative. None of the WT-associated lesions were positive for KRT7, but 69-80% of lesions associated with pRCTs and MTSCCs were positive for KRT7. KRT8, KRT18 and KRT19 were found to be expressed in 80-100% of all types of precursor lesions. Our findings indicate that the precursor lesions analysed in this study are committed in an early stage of cellular differentiation to the development of either Wilms' tumours or papillary RCTs and MTSCCs.

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Trisomy 7 and 17 mark papillary renal cell tumours irrespectively of variation of the phenotype

Abstract: Trisomies of chromosomes 7 and 17 are specific genetic alterations in papillary RCTs irrespective of their size, grade and cellular differentiation.

Cited by 29 publications

References 19 publications

MET Is a Potential Target across All Papillary Renal Cell Carcinomas: Result from a Large Molecular Study of pRCC with CGH Array and Matching Gene Expression Array

MET Is a Potential Target across All Papillary Renal Cell Carcinomas: Result from a Large Molecular Study of pRCC with CGH Array and Matching Gene Expression Array

Papillary renal cell carcinoma embedded in an oncocytoma: Case report of a rare combined tumour of the kidney

Expression of KRT7 and WT1 differentiates precursor lesions of Wilms’ tumours from those of papillary renal cell tumours and mucinous tubular and spindle cell carcinomas

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