Linked Life Data

18580682

Source:http://linkedlifedata.com/resource/pubmed/id/18580682

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
8
pubmed:dateCreated
2008-7-30
pubmed:abstractText
Several previous studies have demonstrated the lack of SMARCB1/INI1 protein expression in only the malignant rhabdoid tumor (MRT). Several sarcoma groups are associated with a tumor-specific translocation involving EWS. Moreover, the EWS and SMARCB1/INI1 genes are located on the same 22q chromosome. We analyzed the status of SMARCB1/INI1 protein expression in 93 cases of sarcomas associated with chromosomal translocation involving EWS, comprising 52 Ewing's sarcoma/primitive neuroectodermal tumors, 24 extraskeletal myxoid chondrosarcomas (EMCS), 14 clear cell sarcomas of soft tissue, 2 desmoplastic small round cell tumors, and 1 myxoid/round cell liposarcoma. In addition, we analyzed the detailed SMARCB1/INI1 gene alteration in cases, which lacked its protein expression. Consequently, 4 EMCS showed no SMARCB1/INI1 expression, and 2 of these 4 cases revealed homozygous deletion and frameshift mutation of the SMARCB1/INI1 gene, respectively. These cases showed histologic findings compatible with EMCS, according to the most recent WHO classification, but no major fusion gene transcripts were detected. Moreover, 3 out of 4 SMARCB1/INI1 negative variant EMCS disclosed rhabdoid features. Therefore, the lack of SMARCB1/INI1 protein expression may be associated with rhabdoid features. The immunohistochemical result of the SMARCB1/INI expression is not an absolute diagnostic criteria for MRT and careful histologic evaluation is required to make a precise diagnosis of MRT.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
1532-0979
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
32
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1168-74
pubmed:dateRevised
2011-11-17
pubmed:meshHeading
pubmed-meshheading:18580682-Chondrosarcoma, pubmed-meshheading:18580682-Chromosomal Proteins, Non-Histone, pubmed-meshheading:18580682-DNA-Binding Proteins, pubmed-meshheading:18580682-Down-Regulation, pubmed-meshheading:18580682-Gene Expression Regulation, Neoplastic, pubmed-meshheading:18580682-Humans, pubmed-meshheading:18580682-Immunohistochemistry, pubmed-meshheading:18580682-Liposarcoma, Myxoid, pubmed-meshheading:18580682-Neuroectodermal Tumors, Primitive, pubmed-meshheading:18580682-Oncogene Proteins, Fusion, pubmed-meshheading:18580682-Prognosis, pubmed-meshheading:18580682-RNA-Binding Protein EWS, pubmed-meshheading:18580682-Reproducibility of Results, pubmed-meshheading:18580682-Rhabdoid Tumor, pubmed-meshheading:18580682-Sarcoma, pubmed-meshheading:18580682-Sarcoma, Clear Cell, pubmed-meshheading:18580682-Sarcoma, Ewing, pubmed-meshheading:18580682-Transcription Factors, pubmed-meshheading:18580682-Translocation, Genetic
pubmed:year
2008
pubmed:articleTitle
SMARCB1/INI1 protein expression in round cell soft tissue sarcomas associated with chromosomal translocations involving EWS: a special reference to SMARCB1/INI1 negative variant extraskeletal myxoid chondrosarcoma.
pubmed:affiliation
Department of Anatomic Pathology, Graduate School of Medical Sciences, Kyushu University, Maidashi 3-1-1, Higashi-ku, Fukuoka, Japan.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't