Biallelic inactivation of TP53 rarely contributes to the development of malignant peripheral nerve sheath tumors

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Lothe, Ragnhild A. (author)

Biallelic inactivation of TP53 rarely contributes to the development of malignant peripheral nerve sheath tumors

Article/chapterEnglish2001

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2001

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LIBRIS-ID:oai:lup.lub.lu.se:c4bd8834-4e9a-43a4-9475-bfe54ffc567f
https://lup.lub.lu.se/record/1120234URI
https://doi.org/10.1002/1098-2264(2000)9999:9999<::AID-GCC1079>3.0.CO;2-5DOI

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Language:English
Summary in:English

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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 patients with NF1 and 5 sporadic cases, for mutations in the coding sequence of the TP53 gene (exons 2-11). We applied denaturing gradient gel electrophoresis and 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 detection of 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 that the 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.

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Smith-Sorensen, Birgitte (author)
Hektoen, Merete (author)
Stenwig, Anna Elisabeth (author)
Mandahl, NilsLund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine(Swepub:lu)kgen-nma (author)
Saeter, Gunnar (author)
Mertens, FredrikLund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine(Swepub:lu)kgen-fme (author)
Avdelningen för klinisk genetikInstitutionen för laboratoriemedicin (creator_code:org_t)

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In:Genes, Chromosomes and Cancer30:2, s. 202-2061045-2257

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By the author/editor: Lothe, Ragnhild ...; Smith-Sorensen, ...; Hektoen, Merete; Stenwig, Anna El ...; Mandahl, Nils; Saeter, Gunnar; show more...; Mertens, Fredrik; show less...

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MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Basic Medicine; and Medical Genetics

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By the university: Lund University

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