Linked Life Data

20500513

Source:http://linkedlifedata.com/resource/pubmed/id/20500513

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
2010-10-7
pubmed:abstractText
We observed an unusually large subependymoma in a female patient with congenital aniridia. To analyze the genetic mechanisms of tumorigenesis, we first examined the paired box 6 (PAX6) gene using both tumor tissue and peripheral lymphocytes. Tumor suppressor activity has been proposed for PAX6 in gliomas, in addition to its well-known role in the eye development. Using genomic quantitative PCR and loss of heterozygosity analysis, we identified hemizygous deletions in the 5'-region of PAX6. In lymphocytes, the deletion within PAX6 spanned from between exons 6 and 7 to the 5'-upstream region of the gene, but did not reach the upstream gene, RNC1, which is reported to be associated with tumors. The subependymoma had an additional de novo deletion spanning from the intron 4 to intron 6 of PAX6, although we could not completely determine whether these two deletions are on the same chromosome or not. We also examined other potentially relevant tumor suppressor genes: PTEN, TP53 and SOX2. However, we detected no exonic mutations or deletions in these genes. Collectively, we speculate that the defect in PAX6 may have contributed to the extremely large size of the subependymoma, due to a loss of tumor suppressor activity in glial cell lineage.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
1750-3639
pubmed:author
pubmed:copyrightInfo
© 2010 The Authors; Brain Pathology © 2010 International Society of Neuropathology.
pubmed:issnType
Electronic
pubmed:volume
20
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1033-41
pubmed:meshHeading
pubmed:year
2010
pubmed:articleTitle
Giant subependymoma developed in a patient with aniridia: analyses of PAX6 and tumor-relevant genes.
pubmed:affiliation
Laboratory for Molecular Psychiatry, RIKEN Brain Science Institute, Wako-city, Saitama, Japan. mmaekawa@brain.riken.jp
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't