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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Verdijk, Robert M. Den Bakker, Michael A. Dubbink, Hendrikus J. Hop, Wim C. J. Dinjens, Winand N. M. Kros, Johan M. |
| Description | Country affiliation: Netherlands Author Affiliation: Verdijk RM ( Department of Pathology, Erasmus MC, University, Rotterdam, The Netherlands. r.verdijk@erasmusmc.nl) |
| Abstract | Mutations in TP53 underlie the development of malignant peripheral nerve sheath tumors (MPNSTs) in animal models, but there is controversy regarding the extent of TP53 mutations in human MPNSTs. We assessed the TP53 mutation frequency in 145 consecutive cases from our department over 36 years; 88 cases were histologically confirmed as MPNSTs, and corresponding clinical data were reviewed. Mutation analysis of TP53 Exons 4 to 9 on DNA from formalin-fixed, paraffin-embedded specimens was performed by bidirectional DNA sequencing. Tumors were localized in the extremities (n = 34), trunk (n = 34), or head and neck (n = 20). A minority of patients (n = 26, 30%) had neurofibromatosis type 1 (NF1); in these patients, the diagnosis of MPNST was made at younger ages (33 [SD, 3.6] years vs 49 [SD, 2.9] years in NF1 vs non-NF1; p = 0.003). High p53 protein expression was detected in 18 (21%) of 86 cases by immunohistochemistry. TP53 mutations were detected in 17 (24%) of 72 evaluable tumors, of which 36% were from NF1 patients. TP53 mutation and strong p53 immunostaining were positively correlated (p = 0.002); high proliferation indices correlated with cellular epithe-lioid and storiform growth patterns. These results indicate that TP53 mutations are relatively rare in human MPNST and that they are not positively correlated with the presence of NF1. |
| File Format | HTM / HTML |
| ISSN | 00223069 |
| e-ISSN | 15546578 |
| Journal | Journal of Neuropathology & Experimental Neurology |
| Issue Number | 1 |
| Volume Number | 69 |
| Language | English |
| Publisher | Oxford University Press |
| Publisher Date | 2010-01-01 |
| Publisher Place | Great Britain (UK) |
| Access Restriction | Open |
| Subject Keyword | Discipline Neurology Discipline Pathology Genetic Predisposition To Disease Genetics Mutation Nerve Sheath Neoplasms Peripheral Nervous System Neoplasms Tumor Suppressor Protein P53 Adolescent Chi-square Distribution Dna Mutational Analysis Pathology Neurofibromatosis 1 Retrospective Studies Statistics, Nonparametric Ubiquitin-protein Ligases Metabolism |
| Content Type | Text |
| Resource Type | Article |
| Subject | Neurology Neurology (clinical) Pathology and Forensic Medicine Cellular and Molecular Neuroscience |
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