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
Jazyk angličtina Země Německo Médium print-electronic
Typ dokumentu kazuistiky, časopisecké články, práce podpořená grantem
- MeSH
- adaptorové proteiny signální transdukční genetika MeSH
- erbB receptory genetika MeSH
- fenotyp MeSH
- genová dávka * MeSH
- geny p53 MeSH
- glioblastom genetika patologie terapie MeSH
- jaderné proteiny genetika MeSH
- lidé MeSH
- mladiství MeSH
- mozek metabolismus patologie MeSH
- mutace MeSH
- MutL homolog 1 MeSH
- nádorové buněčné linie MeSH
- nádory mozku genetika patologie terapie MeSH
- progrese nemoci MeSH
- výsledek terapie MeSH
- Check Tag
- lidé MeSH
- mladiství MeSH
- mužské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
- práce podpořená grantem MeSH
- Názvy látek
- adaptorové proteiny signální transdukční MeSH
- EGFR protein, human MeSH Prohlížeč
- erbB receptory MeSH
- jaderné proteiny MeSH
- MLH1 protein, human MeSH Prohlížeč
- MutL 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.
Zobrazit více v PubMed
Cancer Res. 2004 Oct 1;64(19):6892-9 PubMed
J Neuropathol Exp Neurol. 2005 Jun;64(6):479-89 PubMed
Clin Med Oncol. 2009 Apr 8;3:39-52 PubMed
J Clin Pathol. 2009 Apr;62(4):314-24 PubMed
Tumour Biol. 2001 Mar-Apr;22(2):59-66 PubMed
BMC Cancer. 2008 Oct 16;8:300 PubMed
Histopathology. 2005 Dec;47(6):560-4 PubMed
Neuro Oncol. 2007 Apr;9(2):113-23 PubMed
Proc Natl Acad Sci U S A. 1995 Apr 25;92(9):3963-7 PubMed
Childs Nerv Syst. 2001 Sep;17(9):503-11 PubMed
Diagn Cytopathol. 2005 Oct;33(4):228-32 PubMed
Neoplasma. 2007;54(3):212-8 PubMed
Am J Pathol. 2007 May;170(5):1445-53 PubMed
Int J Cancer. 2007 Oct 15;121(8):1729-37 PubMed
Oncol Rep. 2009 Jan;21(1):119-27 PubMed
Lung Cancer. 2006 Dec;54(3):387-98 PubMed
Laryngoscope. 2005 Jul;115(7):1212-8 PubMed
J Cancer Res Clin Oncol. 2008 Feb;134(2):271-9 PubMed
