Source:http://linkedlifedata.com/resource/pubmed/id/17620295
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
10
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pubmed:dateCreated |
2007-8-7
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pubmed:abstractText |
The recent description of a new X chromosome tumor suppressor gene, WTX, that is commonly inactivated in Wilms' tumor prompted us to examine the possible involvement of WTX in a case of Wilms' tumor containing an apparently balanced reciprocal translocation between chromosomes X and 18 (t(X;18)(q11;p11)). Fluorescence in situ hybridization (FISH) analysis of paraffin tumor sections indeed revealed a deletion of the WTX locus at Xq11. High-resolution array comparative genomic hybridization (array CGH) analysis of tumor DNA revealed a 1.5 Mb chromosome deletion encompassing the WTX gene at Xq11. No loss of genetic material was detected on chromosome 18. Interestingly, unlike most tumors with acquired chromosomal translocations, where a new fusion oncogene or promoter-oncogene fusion is created and drives tumor growth, the t(X;18) in this tumor appears to drive tumorigenesis via deletion of a tumor suppressor. This case demonstrates the importance of array CGH and FISH as adjuncts in tumor cytogenetics and in identifying pathogenic microdeletions in "balanced" translocations that are not truly balanced.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Oct
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pubmed:issn |
1045-2257
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pubmed:author | |
pubmed:copyrightInfo |
Copyright (c) 2007 Wiley-Liss, Inc.
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pubmed:issnType |
Print
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pubmed:volume |
46
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
909-13
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pubmed:dateRevised |
2011-11-17
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pubmed:meshHeading |
pubmed-meshheading:17620295-Adaptor Proteins, Signal Transducing,
pubmed-meshheading:17620295-Chromosomes, Human, Pair 18,
pubmed-meshheading:17620295-Chromosomes, Human, X,
pubmed-meshheading:17620295-Gene Deletion,
pubmed-meshheading:17620295-Gene Expression Profiling,
pubmed-meshheading:17620295-Humans,
pubmed-meshheading:17620295-In Situ Hybridization, Fluorescence,
pubmed-meshheading:17620295-Infant, Newborn,
pubmed-meshheading:17620295-Karyotyping,
pubmed-meshheading:17620295-Kidney Neoplasms,
pubmed-meshheading:17620295-Male,
pubmed-meshheading:17620295-Nucleic Acid Hybridization,
pubmed-meshheading:17620295-Oligonucleotide Array Sequence Analysis,
pubmed-meshheading:17620295-Translocation, Genetic,
pubmed-meshheading:17620295-Tumor Suppressor Proteins,
pubmed-meshheading:17620295-Wilms Tumor
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pubmed:year |
2007
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pubmed:articleTitle |
Wilms' tumor with an apparently balanced translocation t(X;18) resulting in deletion of the WTX gene.
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pubmed:affiliation |
Molecular Diagnostics Laboratory, Department of Pathology, Massachusetts General Hospital, and Harvard Medical School, Boston, MA 02114, USA.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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