Linked Life Data

17873895

Source:http://linkedlifedata.com/resource/pubmed/id/17873895

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PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
12
pubmed:dateCreated
2007-11-16
pubmed:abstractText
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.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
0893-3952
pubmed:author
pubmed:issnType
Print
pubmed:volume
20
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1217-29
pubmed:meshHeading
pubmed-meshheading:17873895-Adolescent, pubmed-meshheading:17873895-Adult, pubmed-meshheading:17873895-Base Sequence, pubmed-meshheading:17873895-Carcinoma, Renal Cell, pubmed-meshheading:17873895-Child, pubmed-meshheading:17873895-Child, Preschool, pubmed-meshheading:17873895-DNA Mutational Analysis, pubmed-meshheading:17873895-Female, pubmed-meshheading:17873895-Humans, pubmed-meshheading:17873895-Immunohistochemistry, pubmed-meshheading:17873895-Kidney Neoplasms, pubmed-meshheading:17873895-Male, pubmed-meshheading:17873895-Molecular Sequence Data, pubmed-meshheading:17873895-Mutation, pubmed-meshheading:17873895-Polymerase Chain Reaction, pubmed-meshheading:17873895-Signal Transduction, pubmed-meshheading:17873895-Wnt Proteins, pubmed-meshheading:17873895-beta Catenin, pubmed-meshheading:17873895-gamma Catenin
pubmed:year
2007
pubmed:articleTitle
Wnt signaling pathway analysis in renal cell carcinoma in young patients.
pubmed:affiliation
Institute of Pathology, University Hospital Basel, Schoenbeinstrasse 40, Basel, Switzerland. elisabeth.bruder@unibas.ch
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't