Linked Life Data

17721184

Source:http://linkedlifedata.com/resource/pubmed/id/17721184

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
9
pubmed:dateCreated
2007-8-27
pubmed:abstractText
Desmoid-type fibromatosis is a locally aggressive deep soft tissue tumor. Some cases are associated with adenosis polyposis coli germline mutations whereas others harbor somatic beta-catenin point mutations mainly in exon 3, codons 41 and 45. These mutations result in stabilization of beta-catenin, and activation of the Wnt signaling pathway. The aim of this study was to determine the specificity and sensitivity of these 3 most common beta-catenin mutations in the diagnosis of desmoid-type fibromatosis using paraffin-embedded material. The results were compared with nuclear expression of beta-catenin. Mutation-specific restriction enzyme digestion methodology was employed to detect the 3 mutations. One hundred and thirty-three cases were analyzed, including 76 desmoid-type, and 18 superficial fibromatosis, in addition to a further 39 fibromatosis mimics. A restriction site was present for analysis of the codon 41 mutation. Mismatch primers were designed for the codon 45 mutations. Mutations were detected in 66 cases (87%) of 76 desmoid-type fibromatosis (71 extra-abdominal). Of these, 34 (45%) were in codon 45 (TCT>TTT), 27 (35%) in codon 41 (ACC>GCC), and 5 (7%) in codon 45 (TCT>CCT). No mutations were detected in the other lesions studied. All desmoid-type fibromatosis cases and 72% of the mimics tested showed nuclear positivity for beta-catenin indicating immunohistochemistry is a sensitive but not a specific test for desmoid-type fibromatosis. In contrast, to date, beta-catenin mutations have not been detected in any lesions which mimic desmoid-type fibromatosis. Mutation-specific restriction enzyme digestion, a simple and efficient means of detecting the common beta-catenin mutations in desmoid-type fibromatosis, complements light microscopy in reaching a diagnosis.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
0147-5185
pubmed:author
pubmed:issnType
Print
pubmed:volume
31
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1299-309
pubmed:meshHeading
pubmed-meshheading:17721184-Adolescent, pubmed-meshheading:17721184-Adult, pubmed-meshheading:17721184-Aged, pubmed-meshheading:17721184-Base Sequence, pubmed-meshheading:17721184-Cell Nucleus, pubmed-meshheading:17721184-Child, pubmed-meshheading:17721184-Codon, pubmed-meshheading:17721184-DNA Mutational Analysis, pubmed-meshheading:17721184-Diagnosis, Differential, pubmed-meshheading:17721184-Female, pubmed-meshheading:17721184-Fibromatosis, Aggressive, pubmed-meshheading:17721184-Gene Expression Regulation, Neoplastic, pubmed-meshheading:17721184-Humans, pubmed-meshheading:17721184-Immunohistochemistry, pubmed-meshheading:17721184-Magnetic Resonance Imaging, pubmed-meshheading:17721184-Male, pubmed-meshheading:17721184-Middle Aged, pubmed-meshheading:17721184-Molecular Sequence Data, pubmed-meshheading:17721184-Mutation, pubmed-meshheading:17721184-Paraffin Embedding, pubmed-meshheading:17721184-Predictive Value of Tests, pubmed-meshheading:17721184-Restriction Mapping, pubmed-meshheading:17721184-Sensitivity and Specificity, pubmed-meshheading:17721184-Tissue Array Analysis, pubmed-meshheading:17721184-beta Catenin
pubmed:year
2007
pubmed:articleTitle
Detection of beta-catenin mutations in paraffin-embedded sporadic desmoid-type fibromatosis by mutation-specific restriction enzyme digestion (MSRED): an ancillary diagnostic tool.
pubmed:affiliation
Department of Histopathology, Santa Casa School of Medical Sciences, Sao Paulo, Brazil.
pubmed:publicationType
Journal Article, Comparative Study, Research Support, Non-U.S. Gov't, Evaluation Studies