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Titolo:
MOLECULAR-GENETIC ANALYSIS OF CHROMOSOME ARM 17P AND CHROMOSOME ARM 22Q DNA-SEQUENCES IN SPORADIC PEDIATRIC EPENDYMOMAS
Autore:
VONHAKEN MS; WHITE EC; DANESHVARSHYESTHER L; SIH S; CHOI E; KALRA R; COGEN PH;
Indirizzi:
CHILDRENS NATL MED CTR,DEPT NEUROSURG,111 MICHIGAN AVE NW WASHINGTON DC 20010 UNIV CHICAGO,NEUROSURG SECT,MAGGIE MCNAMARA BARRETT BEAR KRUPA MEM LAB CHICAGO IL 60637 UNIV CALIF SAN FRANCISCO,DEPT LAB MED SAN FRANCISCO CA 94143 CHILDRENS HOSP OAKLAND,DEPT PEDIAT OAKLAND CA 00000 UNIV HEIDELBERG,ABT NEUROCHIRURG HEIDELBERG GERMANY
Titolo Testata:
Genes, chromosomes & cancer
fascicolo: 1, volume: 17, anno: 1996,
pagine: 37 - 44
SICI:
1045-2257(1996)17:1<37:MAOCA1>2.0.ZU;2-K
Fonte:
ISI
Lingua:
ENG
Soggetto:
NERVOUS-SYSTEM TUMORS; HUMAN BRAIN-TUMORS; P53 MUTATIONS; PILOCYTIC ASTROCYTOMAS; NF2 GENE; HETEROZYGOSITY; ABNORMALITIES; INVOLVEMENT; MENINGIOMAS; BREAKPOINT;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
35
Recensione:
Indirizzi per estratti:
Citazione:
M.S. Vonhaken et al., "MOLECULAR-GENETIC ANALYSIS OF CHROMOSOME ARM 17P AND CHROMOSOME ARM 22Q DNA-SEQUENCES IN SPORADIC PEDIATRIC EPENDYMOMAS", Genes, chromosomes & cancer, 17(1), 1996, pp. 37-44

Abstract

Ependymomas are glial tumors of the brain and spinal cord occurring both sporadically and in a familiar syndrome, neurofibromatosis type 2 (NF2). Previous analyses performed on specimens obtained predominantlyfrom adult patients have shown loss of DNA sequences from chromosome arm 22q, which is the location of the NF2 gene. Previously, we documented the consistent loss of chromosome arm 17p DNA in medulloblastoma and astrocytoma, which are the most common brain tumors in children. Although mutation of the TP53 gene located on 17p is the most frequent genetic mutation in all adult tumor types, such mutations are rare in most childhood brain tumors investigated to date, We studied a series of pediatric ependymoma specimens (16 intracranial and 2 spinal) for loss of 17p and 22q DNA sequences and for mutation of the TP53 and NF2 genes. None of the children had the clinical stigmata of NF2. We detected loss of 17p DNA sequences in 9 of the is specimens (50%); in 7 of 9of these specimens (78%), the 144-D6 marker was deleted. In contrast,only 2 of these same 18 specimens (11%) showed loss of 22q DNA. One TP53 gene mutation was detected in a child from a cancer kindred. No mutations were detected in the NF2 gene. Our results suggest that loss of chromosome arm 17p DNA sequences is common in sporadic pediatric ependymomas and that, in contrast to ependymomas in adults, deletion of chromosome arm 229 sequences is rare. Furthermore, TP53 and NF2 gene mutations do not play an important role in the etiology of sporadic pediatric ependymomas. (C) 1996 Wiley-Liss, Inc.

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Documento generato il 31/03/20 alle ore 10:26:26