Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
2004-4-23
pubmed:abstractText
Atypical teratoid/rhabdoid tumor (AT/RT) may be misdiagnosed as primitive neuroectodermal tumor/medulloblastoma (PNET) and occasionally as other tumors. Molecular genetic analysis of AT/RT demonstrates deletion and mutation of the hSNF5/INI1 gene in most cases, with decreased or absent expression at the RNA or protein level. Immunohistochemistry with an antibody to INI1 was performed to determine whether this would be a sensitive and specific means of assessing INI1 loss in pediatric brain tumors. Fifty-three tumors consisting of 20 AT/RTs, 10 PNETs, and 23 other central nervous system tumors were examined. No nuclear staining was found in all 20 AT/RTs. Most other central nervous system tumors demonstrated nuclear staining. Eight cases in which classification as AT/RT or PNET was difficult were also examined. Seven cases had no chromosome 22 deletion or INI1 mutation; INI1 antibody showed nuclear staining in these cases. One case was a recurrent tumor with features consistent with an AT/RT. INI1 immunostaining was negative in this case, and a mutation in INI1 was subsequently identified. Immunohistochemical staining with an INI1 antibody correlates with molecular findings in AT/RT and may be useful in confirming the histologic diagnosis. INI1 immunostaining may have particular utility in the analysis of tumors with indeterminate histologic features or atypical immunophenotypic profiles.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
0147-5185
pubmed:author
pubmed:issnType
Print
pubmed:volume
28
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
644-50
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed-meshheading:15105654-Adolescent, pubmed-meshheading:15105654-Brain Neoplasms, pubmed-meshheading:15105654-Cell Nucleus, pubmed-meshheading:15105654-Child, pubmed-meshheading:15105654-Child, Preschool, pubmed-meshheading:15105654-Chromosomal Proteins, Non-Histone, pubmed-meshheading:15105654-Chromosome Deletion, pubmed-meshheading:15105654-Chromosomes, Human, Pair 22, pubmed-meshheading:15105654-DNA, Neoplasm, pubmed-meshheading:15105654-DNA-Binding Proteins, pubmed-meshheading:15105654-Female, pubmed-meshheading:15105654-Humans, pubmed-meshheading:15105654-Immunoenzyme Techniques, pubmed-meshheading:15105654-In Situ Hybridization, Fluorescence, pubmed-meshheading:15105654-Infant, pubmed-meshheading:15105654-Male, pubmed-meshheading:15105654-Mutation, pubmed-meshheading:15105654-Neuroectodermal Tumors, Primitive, pubmed-meshheading:15105654-Rhabdoid Tumor, pubmed-meshheading:15105654-Teratoma, pubmed-meshheading:15105654-Transcription Factors, pubmed-meshheading:15105654-Tumor Markers, Biological
pubmed:year
2004
pubmed:articleTitle
Immunohistochemical analysis of hSNF5/INI1 in pediatric CNS neoplasms.
pubmed:affiliation
Department of Pathology, Children's Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Research Support, Non-U.S. Gov't