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Titolo:
Biallelic inactivation of TP53 rarely contributes to the development of malignant peripheral nerve sheath tumors
Autore:
Lothe, RA; Smith-Sorensen, B; Hektoen, M; Stenwig, AE; Mandahl, N; Saeter, G; Mertens, F;
Indirizzi:
Norwegian Radium Hosp, Inst Canc Res, Dept Genet, N-0310 Oslo, Norway Norwegian Radium Hosp Oslo Norway N-0310 Dept Genet, N-0310 Oslo, Norway Norwegian Radium Hosp, Inst Canc Res, Dept Tumor Biol, N-0310 Oslo, NorwayNorwegian Radium Hosp Oslo Norway N-0310 Tumor Biol, N-0310 Oslo, Norway Norwegian Radium Hosp, Dept Pathol, N-0310 Oslo, Norway Norwegian Radium Hosp Oslo Norway N-0310 ept Pathol, N-0310 Oslo, Norway Univ Lund Hosp, Dept Clin Genet, S-22185 Lund, Sweden Univ Lund Hosp Lund Sweden S-22185 Dept Clin Genet, S-22185 Lund, Sweden Norwegian Radium Hosp, Dept Oncol, N-0310 Oslo, Norway Norwegian Radium Hosp Oslo Norway N-0310 Dept Oncol, N-0310 Oslo, Norway
Titolo Testata:
GENES CHROMOSOMES & CANCER
fascicolo: 2, volume: 30, anno: 2001,
pagine: 202 - 206
SICI:
1045-2257(200102)30:2<202:BIOTRC>2.0.ZU;2-9
Fonte:
ISI
Lingua:
ENG
Soggetto:
DENATURANT GEL-ELECTROPHORESIS; COMPARATIVE GENOMIC HYBRIDIZATION; SOFT-TISSUE SARCOMAS; P53 GENE; VONRECKLINGHAUSEN NEUROFIBROMATOSIS; CYTOGENETIC ANALYSIS; MUTATION DETECTION; TYPE-1; INK4A; NF1;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
37
Recensione:
Indirizzi per estratti:
Indirizzo: Lothe, RA Norwegian Radium Hosp, Inst Canc Res, Dept Genet, N-0310 Oslo, Norway Norwegian Radium Hosp Oslo Norway N-0310 , N-0310 Oslo, Norway
Citazione:
R.A. Lothe et al., "Biallelic inactivation of TP53 rarely contributes to the development of malignant peripheral nerve sheath tumors", GENE CHROM, 30(2), 2001, pp. 202-206

Abstract

About 10% of the patients with neurofibromatosis type 1 (NF1) develop malignant peripheral nerve sheath tumors (MPNSTs), accounting for half of all MPNST cases. Several nonrandom chromosomal aberrations have been found, but the target genes remain mostly unrecognized. Mutations in the NF1 and TP53 genes have been found in some MPNSTs, and recent data from mouse models support a synergistic effect of these two genes in the development of MPNST. In the present study, we have analyzed 16 MPNSTs, including 11 from patientswith NF1 and 5 sporadic cases, for mutations in the coding sequence of theTP53 gene (exons 2-11). We applied denaturing gradient gel electrophoresisand modifications of this technique for analyses of 12 genomic fragments, followed by direct sequencing for identification of the mutated base(s). None of the MPNSTs revealed mutations. The detection of control mutants for each fragment analyzed, the high sensitivity of the technique, the detectionof polymorphisms in some samples, and the high content of tumor tissue in the biopsies imply that false negatives are highly unlikely. Although we cannot exclude that deletions including large parts of the gene remain undetected by the mutation analyses, previous comparative genomic hybridization (CGH), cytogenetic banding analysis, and/or loss of heterozygosity studies on 14 of the cases included here had revealed 17p deletions in only three. We thus conclude that TP53 biallelic inactivation is rare in MPNST, and thatthe potential impact of an altered TP53 pathway on the malignant transformation of a neurofibroma into an MPNST may more frequently occur by changes in other components of that pathway. (C) 2001 Wiley-Liss, Inc.

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Documento generato il 28/03/20 alle ore 22:54:19