Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UNIPROT:P41181 (collecting duct)
 5,183 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Most renal cell carcinomas are assigned to either the papillary or clear cell, non-papillary type by morphological and cytogenetic criteria. In rare cases, papillary carcinomas of the kidney have been classified as collecting duct carcinoma because of their medullary localization and the associated hyperplastic and dysplastic epithelial lesions of collecting ducts in the vicinity of the tumour. In this first report on the cytogenetics of collecting duct carcinoma, we describe unique and consistent chromosomal aberrations in three cases. Each of the three tumours showed monosomies for chromosomes 1, 6, 14, 15, and 22. This suggests that collecting duct carcinoma is the third type of kidney tumour whose definition is based on morphological as well as on cytogenetic criteria. It appears to be cytogenetically different from the cortical papillary kidney tumour which exhibits trisomy 17 and tri- or tetrasomy 7, and from the non-papillary renal cell carcinoma which characteristically presents deletion of the short arm of chromosome 3.
 ...
PMID:Collecting duct carcinoma: cytogenetic characterization. 150 33

This paper presents the conclusions of a workshop entitled 'Impact of Molecular Genetics on the Classification of Renal Cell Tumours', which was held in Heidelberg in October 1996. The focus on 'renal cell tumours' excludes any discussion of Wilms' tumour and its variants, or of tumours metastatic to the kidneys. The proposed classification subdivides renal cell tumours into benign and malignant parenchymal neoplasms and, where possible, limits each subcategory to the most commonly documented genetic abnormalities. Benign tumours are subclassified into metanephric adenoma and adenofibroma, papillary renal cell adenoma, and renal oncocytoma. Malignant tumours are subclassified into common or conventional renal cell carcinoma; papillary renal cell carcinoma; chromophobe renal cell carcinoma; collecting duct carcinoma, with medullary carcinoma of the kidney; and renal cell carcinoma, unclassified. This classification is based on current genetic knowledge, correlates with recognizable histological findings, and is applicable to routine diagnostic practice.
 ...
PMID:The Heidelberg classification of renal cell tumours. 939 23

Papillary renal adenomas are the commonest neoplasms of the renal tubular epithelium, occurring in up to 40% of adults. If these criteria are met, the diagnosis of adenoma can be made with confidence: (1) papillary, tubular, or tubulopapillary architecture; (2) diameter less than or equal to 5 mm; and (3) does not histologically resemble clear cell, chromophobe, or collecting duct renal cell carcinomas. They are composed of epithelial cells with variable amounts of cytoplasm with variable tinctorial qualities including clear. Metanephric adenoma and metanephric adenofibroma are closely related neoplasms that appear to be benign. Although they have a morphological resemblance to Wilms' tumor, there is some genetic evidence relating them to papillary adenoma and papillary renal cell carcinoma. Metanephric adenoma and metanephric adenofibroma occur at all ages, have a 2:1 predominance of female patients, and are associated with polycythemia. No instance of malignant behavior has been reported. The adenomatous component is composed of uniform small cells arranged in tubular or papillary architectural patterns. The fibromatous component is moderately cellular and composed of bland spindle cells.
 ...
PMID:Papillary and metanephric adenomas of the kidney. 950 5

Just two and a half decades ago adult renal cell neoplasms, i.e., those arising from the renal tubules or collecting duct epithelium, were subdivided into two major subtypes: "clear cell carcinoma" and "granular cell carcinoma." Subsequent detailed morphologic and/or cytogenetic studies have resulted in the recognition of several distinctive subtypes of adult renal epithelial neoplasms, which has led to the promulgation of a refined contemporary histologic classification of these tumors. This study examines the prognostic significance of histologic subtyping in accordance with the new classification in a consecutive series of 405 cases treated at a single institution. Cases were histologically classified into 28 (7%) benign tumors [27 (6.7%) renal oncocytomas, 1 (0.2%) metanephric adenoma] and 377 (93%) malignant tumors [255 (63%) conventional (clear cell) renal cell carcinoma, 75 (18.5%) papillary renal cell carcinoma, 24 (5.9%) chromophobe renal cell carcinoma, and 23 (5.7%) renal cell carcinoma, unclassified]. A total of 25 (6.6%) malignant tumors showed evidence of sarcomatoid change. Kaplan-Meier survival analysis with log-rank test showed histologic type (p = 0.002), Fuhrman's nuclear grade (p = 0.001), TNM stage (p = 0.001), vascular invasion (p = 0.001), and necrosis (p = 0.001) to be significantly associated with disease-specific survival and progression-free survival, based on follow-up of 368 patients (mean 64.5 months, median 56 months). The 5-year disease-specific survival for chromophobe renal cell carcinoma, papillary renal cell carcinoma, conventional (clear cell) renal cell carcinoma, and renal cell carcinoma, unclassified was 100%, 86%, 76%, and 24%, respectively; no patient with a benign tumor diagnosis progressed or died of disease. The 5-year progression-free survival for chromophobe renal cell carcinoma, papillary renal cell carcinoma, conventional (clear cell) renal cell carcinoma, and renal cell carcinoma, unclassified was 94%, 88%, 70%, and 18%, respectively. Malignant tumors with sarcomatoid change had a 35% and 27%, 5-year disease-specific and progression-free survival, respectively. Cox proportional hazards regression analysis showed TNM stage (p = 0.001), nuclear grade (p = 0.01), and necrosis (p = 0.05) to be significant predictors of disease-specific survival. In conclusion, our study shows that the histologic categorization of adult renal epithelial neoplasms performed by routine light microscopic hematoxylin and eosin-based examination in accordance with the contemporary classification scheme has prognostic utility.
 ...
PMID:Prognostic impact of histologic subtyping of adult renal epithelial neoplasms: an experience of 405 cases. 1282 98

A new WHO classification of renal cell carcinoma has been introduced in 2004. This classification includes the recently described renal cell carcinomas with the ASPL-TFE3 gene fusion and carcinomas with a PRCC-TFE3 gene fusion. Collectively, these tumors have been termed Xp11.2 or TFE3 translocation carcinomas, which primarily occur in children and young adults. To further study the characteristics of renal cell carcinoma in young patients and to determine their genetic background, 41 renal cell carcinomas of patients younger than 22 years were morphologically and genetically characterized. Loss of heterozygosity analysis of the von Hippel-Lindau gene region and screening for VHL gene mutations by direct sequencing were performed in 20 tumors. TFE3 protein overexpression, which correlates with the presence of a TFE3 gene fusion, was assessed by immunohistochemistry. Applying the new WHO classification for renal cell carcinoma, there were 6 clear cell (15%), 9 papillary (22%), 2 chromophobe, and 2 collecting duct carcinomas. Eight carcinomas showed translocation carcinoma morphology (20%). One carcinoma occurred 4 years after a neuroblastoma. Thirteen tumors could not be assigned to types specified by the new WHO classification: 10 were grouped as unclassified (24%), including a unique renal cell carcinoma with prominently vacuolated cytoplasm and WT1 expression. Three carcinomas occurred in combination with nephroblastoma. Molecular analysis revealed deletions at 3p25-26 in one translocation carcinoma, one chromophobe renal cell carcinoma, and one papillary renal cell carcinoma. There were no VHL mutations. Nuclear TFE3 overexpression was detected in 6 renal cell carcinomas, all of which showed areas with voluminous cytoplasm and foci of papillary architecture, consistent with a translocation carcinoma phenotype. The large proportion of TFE3 "translocation" carcinomas and "unclassified" carcinomas in the first two decades of life demonstrates that renal cell carcinomas in young patients contain genetically and phenotypically distinct tumors with further potential for novel renal cell carcinoma subtypes. The far lower frequency of clear cell carcinomas and VHL alterations compared with adults suggests that renal cell carcinomas in young patients have a unique genetic background.
 ...
PMID:Morphologic and molecular characterization of renal cell carcinoma in children and young adults. 1531 11

Collecting duct carcinomas (CDCs) are highly aggressive tumors with poor survival at 1 year and are often metastatic at the time of diagnosis. It has been shown that patients may have better survival when treated with a chemotherapy regimen used for urothelial carcinoma. Such tumors must therefore be recognized, but their pathological diagnosis remains difficult. The two main differential diagnoses are renal pelvis urothelial carcinoma with infiltration of the kidney and/or high-grade and high-stage papillary renal cell carcinoma. The aim of our study was to compare the immunophenotype of 14 CDCs with 6 renal pelvis urothelial carcinomas (RPUC) infiltrating the medulla. The following markers were evaluated: ulex europeus aglutinin (UEA), peanuts aglutinin, vimentin and aquaporin 3 (AQP-3), a membrane component of normal collecting duct and urothelial cells. We were able to define a reproductive urothelial phenotype AQP-3+, vimentin- and UEA+. Among the 14 CDCs, 10 cases demonstrated this immunophenotype. It coincided with an urothelial-like trabecular and tubular pattern. In contrast, the 4 remaining papillary CDCs had the inverse pattern, AQP-3-, vimentin+ and UEA-. These results suggest that: (1) the trabecular and tubular variant of CDC with the urothelial AQP-3+, vimentin- phenotype can be included in the spectrum of urothelial diseases; (2) the papillary variant probably does not belong to the same entity; (3) AQP-3 is a marker of interest for improving the histological classification of CDC and unclassified aggressive renal tumors.
 ...
PMID:Collecting duct carcinoma: an entity to be redefined? 1548 Jul 63

Although germline mutations of met proto-oncogene on human chromosome 7q31-34 have been known as useful molecular markers of hereditary papillary renal cell carcinoma (RCC), the expression of MET, a product of met proto-oncogene, has not been fully studied in sporadic RCC, along with its clinical significance. We investigated the expression of MET by immunohistochemistry in 182 cases of renal neoplasm encompassing 145 RCC, 25 urothelial carcinomas of renal pelvis, and 12 oncocytomas. MET was diffusely and strongly expressed in 90% of papillary RCC, all collecting duct carcinomas, and 92% of urothelial carcinomas of renal pelvis. On the contrary, clear cell RCC, chromophobe RCC, and oncocytomas were negative or focally positive for MET expression. In clear cell RCC, MET expression was positively correlated with high nuclear grade, presence of infiltrative growth, tumoral necrosis, papillary architecture, sarcomatoid component, tumoral involvement of the renal pelvis or ureter, involvement of the calyx, and lymphatic invasion. In conclusion, diffuse and strong expression of MET in papillary RCC and collecting duct carcinoma might be helpful in discriminating from the other subtypes of RCC with tubular or papillary growth. In case of MET expression observed in clear cell RCC, it might correlate with those clinicopathological parameters implying aggressive behavior.
 ...
PMID:MET expression in sporadic renal cell carcinomas. 1689 11

Recent advances in molecular genetics and immunocytochemistry have clarified the cell of origin in many renal disorders. Several renal disorders are thought to involve specific segments of the nephron. Renin-secreting tumours arise from juxtaglomerular cells. Clear cell and papillary renal cell carcinoma (RCC) recapitulate the epithelium of the proximal tubules. Oncocytoma and chromophobe RCC differentiate towards Type A and Type B intercalated cells of the cortical collecting duct, respectively. Medullary collecting ducts are the target sites for the development of autosomal recessive polycystic kidney disease, collecting duct carcinoma and medullary carcinoma. Renal papillae are susceptible to unique changes such as necrosis or papillitis. The purpose of our article is threefold: to illustrate the imaging findings of renal disorders that show segmental involvement of the nephron, to describe proximal and distal nephron disorders and to correlate imaging findings of some entities with histopathological features.
 ...
PMID:Segmental disorders of the nephron: histopathological and imaging perspective. 1762 6

Renal cell carcinomas in young patients constitute a morphologically and genetically heterogeneous group. Twenty percent belong to the newly recognized Xp11.2 translocation-associated family and rare tumors arise from nephroblastoma. Aberrant Wnt signaling through beta-catenin mutation has been implicated in nephroblastoma pathogenesis and has been found to synergize with WT1 mutations. To characterize Wnt signaling activity in renal cell carcinomas in young patients, we gathered 34 tumors (three clear cell, ten Xp11.2 translocation associated, five papillary, two chromophobe, two collecting duct, one neuroblastoma associated, eight unclassified renal cell carcinomas, and three carcinomas combined with nephroblastoma) from patients less than 22 years. Expression of beta-catenin, its homologue gamma-catenin, and of WT1 was assessed by immunohistochemistry in 30 tumors, and sequence analysis of CTNNB1, CTNNG1, and WT1 genes was performed in 25 tumors. Cytoplasmic beta-catenin accumulation was demonstrated in two papillary carcinomas, one neuroblastoma-associated carcinoma, and two carcinomas arising from nephroblastoma. The pattern of gamma-catenin expression paralleled that of beta-catenin but its signal intensity was lower in 22, equal in 7, and stronger only in 1 tumor, respectively. Four tumors showed nuclear WT1 expression. One Xp11.2 translocation-associated carcinoma presented a rare intronic CTNNB1 single nucleotide polymorphism and cytoplasmic beta-catenin accumulation. There were no further CTNNB1 or CTNNG1 sequence alterations. A WT1 mutation was found in the nephroblastoma component of a carcinoma arising from nephroblastoma. These findings suggest Wnt signaling pathway activation only in a minority of renal cell carcinomas in young patients. CTNNB1 mutations are rare events. Cytoplasmic beta-catenin accumulation in an Xp11.2-associated carcinoma suggests potential interaction of Wnt signaling components with microphthalmia transcription factor family also in Xp11.2 translocation carcinomas. WT1 mutation in the nephroblastoma component of a mixed-type renal cell carcinoma provides direct evidence for clonal independence of nephroblastoma and carcinoma components in this exceptional tumor.
 ...
PMID:Wnt signaling pathway analysis in renal cell carcinoma in young patients. 1787 95

Kidney-specific cadherin (Ksp-cad) is a membrane-associated cell adhesion glycoprotein expressed by the distal nephron tubular cells in its later developmental stages. Chromophobe renal cell carcinoma and renal oncocytoma are reported to be variably positive for Ksp-cad with some studies suggesting a discriminatory role for Ksp-cad. Immunoreactivity in other tumors with granular eosinophilic cytoplasm including clear cell and papillary renal cell carcinomas needs to be clearly elucidated and its expression in emerging novel and other unusual renal epithelial neoplasm subtypes including tumors with uncertain histogenesis is not yet known. In this study, we performed a detailed immunohistochemical analysis for Ksp-cad in a broad range of 136 renal epithelial neoplasms. Reactivity with Ksp-cad was observed in the following tumors: chromophobe renal cell carcinoma [23/25 (92%), diffuse (>50% of tumor cells)] positivity and membranous characteristically accentuating the "plant cell-like" histomorphology of the typical (clear) type, renal oncocytoma [15/20 (75%), usually diffuse staining with predominantly membranous accentuation], papillary renal cell carcinoma [5/17 (29%) all focal to moderate, eosinophilic type or type 2-3/7 (43%), basophilic type or type 1-2/10 (20%)], Xp11 translocation carcinoma [1/4 (25%), diffuse positivity] and clear cell renal cell carcinoma [6/36 (17%) all focal, clear cell renal cell carcinoma with prominent eosinophilic cells 1/7 (14%)]. Immunoreactivity was higher when evaluating whole histologic sections than with tissue microarrays for both chromophobe renal cell carcinoma (100% vs. 60%) and renal oncocytoma (100% vs. 55%). No immunoreactivity was observed in mucinous tubular and spindle cell carcinomas (0/23), high-grade collecting duct carcinomas (of Bellini) (0/3), renal medullary carcinomas (0/2), and urothelial carcinomas (0/6). Our study documents the immunoreactivity of Ksp-cad in the range of contemporarily classified renal epithelial neoplasms. The findings argue against the use of Ksp-cad in differentiating chromophobe renal cell carcinoma and renal oncocytomas and further support their relationship to the distal nephron. Ksp-cad may be helpful in distinguishing these two tumor types from clear cell renal cell carcinoma with prominent eosinophilic cells particularly in cases with limited tissue samples (ie, needle core biopsy). In the similar diagnostic setting, caution must be exercised, however, in differentiating chromophobe renal cell carcinoma and renal oncocytoma from the eosinophilic variant of papillary renal cell carcinoma as moderate expression of Ksp-cad may be observed in papillary renal cell carcinoma. The histogenesis of mucinous tubular and spindle cell carcinoma remains debatable as this tumor does not express Ksp-cad, which is highly expressed normally in the thick ascending loop of Henle and the distal convoluted tubules. In conclusion, Ksp-cad is a useful tumor type associated marker for distinguishing chromophobe renal cell carcinoma and renal oncocytoma from the wide range of nonintercalated cell-related adult renal epithelial neoplasms; addition of this marker to a panel comprised of other histologic subtype-associated markers may greatly facilitate histologic subclassification of adult renal epithelial neoplasms.
 ...
PMID:Expression analysis of kidney-specific cadherin in a wide spectrum of traditional and newly recognized renal epithelial neoplasms: diagnostic and histogenetic implications. 1789 53


1 2 3 Next >>