Abstract
We observed three neoplasms with completely different histologies: malignant fibrous histiocytoma (MFH), atypical meningioma (AM), and glioblastoma (GB), developing in a patient with Li-Fraumeni syndrome. By using a combined molecular approach we performed molecular characterization of all three tumours. Data obtained showed an interesting molecular background of the AM and GB. AM showed TP53mutations and a 22q loss of heterozygosity (LOH). GB showed epidermal growth factor receptor (EGFR) amplification and TP53 mutations, whereas P16, PTEN, Rbwere intact in terms of LOH and/or multiplex PCR (polymerase chain reaction) analysis. Additionally, GB has a 1q LOH, which is an extremely rare alteration in glioblastomas. Identical 1q LOH was also observed in MFH.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Brain Neoplasms / genetics
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Brain Neoplasms / therapy
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Chromosomes, Human, Pair 1 / genetics
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Chromosomes, Human, Pair 22 / genetics
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DNA / analysis
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Fatal Outcome
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Genetic Testing
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Germ-Line Mutation*
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Glioblastoma / genetics*
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Glioblastoma / therapy
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Histiocytoma, Benign Fibrous / genetics*
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Histiocytoma, Benign Fibrous / therapy
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Humans
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Li-Fraumeni Syndrome / complications
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Li-Fraumeni Syndrome / genetics*
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Li-Fraumeni Syndrome / therapy
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Loss of Heterozygosity
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Male
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Meningioma / genetics*
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Meningioma / therapy
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Microsatellite Repeats
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Neoplasms, Multiple Primary / genetics*
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Neoplasms, Multiple Primary / therapy
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Skin Neoplasms / genetics
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Skin Neoplasms / therapy
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Tumor Suppressor Protein p53 / genetics*
Substances
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Tumor Suppressor Protein p53
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DNA