PMID- 20195615
OWN - NLM
STAT- MEDLINE
DCOM- 20100831
LR  - 20211020
IS  - 1433-0350 (Electronic)
IS  - 0256-7040 (Linking)
VI  - 26
IP  - 6
DP  - 2010 Jun
TI  - 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.
PG  - 841-6
LID - 10.1007/s00381-010-1110-5 [doi]
AB  - 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.
FAU - Veselska, Renata
AU  - Veselska R
AD  - Department of Experimental Biology, Faculty of Science, Masaryk University, 
      Kotlarska 2, 611 37, Brno, Czech Republic. veselska@sci.muni.cz
FAU - Skoda, Jan
AU  - Skoda J
FAU - Loja, Tomas
AU  - Loja T
FAU - Zitterbart, Karel
AU  - Zitterbart K
FAU - Pavelka, Zdenek
AU  - Pavelka Z
FAU - Smardova, Jana
AU  - Smardova J
FAU - Valaskova, Iveta
AU  - Valaskova I
FAU - Hermanova, Marketa
AU  - Hermanova M
FAU - Sterba, Jaroslav
AU  - Sterba J
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20100227
PL  - Germany
TA  - Childs Nerv Syst
JT  - Child's nervous system : ChNS : official journal of the International Society for 
      Pediatric Neurosurgery
JID - 8503227
RN  - 0 (Adaptor Proteins, Signal Transducing)
RN  - 0 (MLH1 protein, human)
RN  - 0 (Nuclear Proteins)
RN  - EC 2.7.10.1 (EGFR protein, human)
RN  - EC 2.7.10.1 (ErbB Receptors)
RN  - EC 3.6.1.3 (MutL Protein Homolog 1)
SB  - IM
MH  - Adaptor Proteins, Signal Transducing/genetics
MH  - Adolescent
MH  - Brain/metabolism/pathology
MH  - Brain Neoplasms/*genetics/pathology/therapy
MH  - Cell Line, Tumor
MH  - Disease Progression
MH  - ErbB Receptors/*genetics
MH  - *Gene Dosage
MH  - Genes, p53
MH  - Glioblastoma/*genetics/pathology/therapy
MH  - Humans
MH  - Male
MH  - MutL Protein Homolog 1
MH  - Mutation
MH  - Nuclear Proteins/genetics
MH  - Phenotype
MH  - Treatment Outcome
EDAT- 2010/03/03 06:00
MHDA- 2010/09/02 06:00
CRDT- 2010/03/03 06:00
PHST- 2010/02/02 00:00 [received]
PHST- 2010/02/04 00:00 [accepted]
PHST- 2010/03/03 06:00 [entrez]
PHST- 2010/03/03 06:00 [pubmed]
PHST- 2010/09/02 06:00 [medline]
AID - 10.1007/s00381-010-1110-5 [doi]
PST - ppublish
SO  - Childs Nerv Syst. 2010 Jun;26(6):841-6. doi: 10.1007/s00381-010-1110-5. Epub 2010 
      Feb 27.