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PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
2006-4-20
pubmed:abstractText
Malignant rhabdoid tumors are high-grade neoplasms of the central nervous system (CNS), kidneys and soft tissue that usually occur in children. The histologic diagnosis of malignant rhabdoid tumor depends on identification of characteristic rhabdoid cells-large cells with eccentrically located nuclei and abundant, eosinophilic cytoplasm-and immunohistochemistry with antibodies to vimentin, keratin and epithelial membrane antigen. In most malignant rhabdoid tumors, the SMARCB1/INI1 gene, located in chromosome band 22q11.2, is inactivated by deletions and/or mutations, so genetic diagnosis is often possible. However, tissue may not be available for genetic analysis or studies not confirmatory. We assessed SMARCB1/INI1 expression in 17 rhabdoid tumors and 57 other tumors of the CNS, kidney or soft tissue using immunohistochemistry. In total, 12 brain, three renal and two soft tissue rhabdoid tumors were examined along with four glioblastomas, four pilocytic astrocytomas, four oligodendrogliomas, two ependymomas, two choroid plexus papillomas, five pituitary adenomas, four germinomas, four renal carcinomas with Xp11.2 translocations, two clear cell sarcomas, two Wilms' tumors, one renal medullary carcinoma, two desmoplastic small round cell tumors, two alveolar rhabdomyosarcomas, two embryonal rhabdomyosarcomas, one low-grade chondrosarcoma, two extraskeletal myxoid chondrosarcomas, one mesenchymal chondrosarcoma, four malignant peripheral nerve sheath tumors, five metastatic carcinomas and four epithelioid sarcomas, two primary and two metastatic. The neoplastic cells of all rhabdoid tumors, the four epithelioid sarcomas and the renal medullary carcinoma did not express SMARCB1/INI1 by immunohistochemistry; neoplastic cells of all other tumors expressed SMARCB1/INI1. Immunohistochemistry to assess expression of SMARCB1/INI1 may be useful in the diagnosis of rhabdoid tumors of the CNS, kidneys and soft tissue.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
0893-3952
pubmed:author
pubmed:issnType
Print
pubmed:volume
19
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
717-25
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed-meshheading:16528370-Adolescent, pubmed-meshheading:16528370-Adult, pubmed-meshheading:16528370-Brain Neoplasms, pubmed-meshheading:16528370-Central Nervous System Neoplasms, pubmed-meshheading:16528370-Child, pubmed-meshheading:16528370-Child, Preschool, pubmed-meshheading:16528370-Chromosomal Proteins, Non-Histone, pubmed-meshheading:16528370-DNA-Binding Proteins, pubmed-meshheading:16528370-Diagnosis, Differential, pubmed-meshheading:16528370-Female, pubmed-meshheading:16528370-Humans, pubmed-meshheading:16528370-Immunohistochemistry, pubmed-meshheading:16528370-Infant, pubmed-meshheading:16528370-Infant, Newborn, pubmed-meshheading:16528370-Kidney Neoplasms, pubmed-meshheading:16528370-Male, pubmed-meshheading:16528370-Middle Aged, pubmed-meshheading:16528370-Rhabdoid Tumor, pubmed-meshheading:16528370-Soft Tissue Neoplasms, pubmed-meshheading:16528370-Transcription Factors
pubmed:year
2006
pubmed:articleTitle
Absence of expression of SMARCB1/INI1 in malignant rhabdoid tumors of the central nervous system, kidneys and soft tissue: an immunohistochemical study with implications for diagnosis.
pubmed:affiliation
Department of Pathology, University of Texas Southwestern Medical Center, Dallas, TX 75390-9073, USA.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't