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An unusual loss of EGFR gene copy in glioblastoma multiforme in a child: a case report and analysis of a successfully derived HGG-02 cell line

Child's nervous system. 2010 Jun ; 26 (6) : 841-6. [epub] 20100227

Childs Nerv Syst
ISSN 1433-0350 | 0256-7040
Source

Language English Country Germany Media print-electronic

Document type Case Reports, Journal Article, Research Support, Non-U.S. Gov't

Persistent link https://www.medvik.cz/link/pmid20195615

PubMed 20195615
DOI 10.1007/s00381-010-1110-5
Knihovny.cz E-resources

MeSH
Adaptor Proteins, Signal Transducing genetics MeSH
ErbB Receptors genetics MeSH
Phenotype MeSH
Gene Dosage * MeSH
Genes, p53 MeSH
Glioblastoma genetics pathology therapy MeSH
Nuclear Proteins genetics MeSH
Humans MeSH
Adolescent MeSH
Brain metabolism pathology MeSH
Mutation MeSH
MutL Protein Homolog 1 MeSH
Cell Line, Tumor MeSH
Brain Neoplasms genetics pathology therapy MeSH
Disease Progression MeSH
Treatment Outcome MeSH
Check Tag
Humans MeSH
Adolescent MeSH
Male MeSH
Publication type
Journal Article MeSH
Case Reports MeSH
Research Support, Non-U.S. Gov't MeSH
Names of Substances
Adaptor Proteins, Signal Transducing MeSH
EGFR protein, human MeSH Browser
ErbB Receptors MeSH
Nuclear Proteins MeSH
MLH1 protein, human MeSH Browser
MutL Protein Homolog 1 MeSH

PURPOSE: The aim of this study was to perform a detailed cytogenetic and molecular genetic analysis of a tumor taken from a 14.5-year-old boy with glioblastoma multiforme who showed an atypical clinical course. METHODS: Formalin-fixed, paraffin embedded tumor tissue and the corresponding HGG-02 cell line derived from this tumor were analyzed using fluorescence in situ hybridization (FISH), G-banding, multiplex ligation-dependent probe amplification (MLPA), functional analysis of separated alleles in yeast (FASAY), immunohistochemistry (IHC), and immunocytochemistry (ICC). RESULTS: Mutation of the p53 gene and hypermethylation of the MLH1 gene were detected by FASAY and MLPA, respectively. Cytogenetic analysis showed a polyploid karyotype with extensive heterogeneity in chromosome number. Using FISH, we identified a very unusual genetic change - a loss of EGFR gene copy in both the tumor tissue and the HGG-02 cell line. In accordance with the cytogenetic findings, IHC and ICC did not demonstrate overexpression of EGFR in the tumor tissue or HGG-02 cells. CONCLUSIONS: Despite his very poor prognosis, the patient experienced 34 months of event-free survival after surgery and adjuvant radiotherapy and chemotherapy. The detected loss of the EGFR gene copy may contribute to the unusual biological features of this tumor, but the forthcoming detailed expression analysis of cancer regulatory pathways is necessary to better understand this tumor phenotype.

Department of Experimental Biology Faculty of Science Masaryk University Kotlarska 2 611 37 Brno Czech Republic

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