PMID- 11508811
OWN - NLM
STAT- MEDLINE
DCOM- 20020122
LR  - 20190910
IS  - 0167-594X (Print)
IS  - 0167-594X (Linking)
VI  - 52
IP  - 2
DP  - 2001 Apr
TI  - Identification of uncommon chromosomal aberrations in the neuroglioma cell line 
      H4 by spectral karyotyping.
PG  - 119-28
AB  - To elucidate the reasons why mRNA expression of the LGI1 candidate 
      tumor-suppressor gene was severely reduced in the glioma-derived cell line H4, as 
      demonstrated in a previous study, we performed a cytogenetic analysis of this 
      cell line using conventional methods and fluorescence in situ hybridization 
      (FISH) techniques [spectral karyotyping (SKY), interphase- and chromosome FISH of 
      metaphases (I- and C-FISH)]. Cell line H4 is monoclonal and near triploid 
      (+/-3n). SKY enabled us to detect 24 structural aberrations: unbalanced 
      translocations, n = 12; deletions, n = 10; insertion, n = 1; duplication, n = 1. 
      The results were confirmed by I- and C-FISH analysis using chromosome-specific 
      paints, centromer-specific probes and locus-specific probes for p53, PTEN/MMAC1, 
      LGI1, Cyclin D1, EGR1, ETV6/TEL, AML1, and the genomic region 13q14.3 containing 
      the Rb locus. We found loss of one copy of p53 as well as of one copy of Rb. 
      Complete loss of PTEN/MMAC1 was detected, while all copies of LGI1 and Cyclin D1 
      were preserved. Interestingly, there was a gain of ETV6/TEL and EGR1, which were 
      each present in quadruplicate. Additionally, the AML1 locus revealed mosaicism of 
      cells with three and four copies, respectively. Additionally, a 5q-chromosome 
      [del(5)(q13q33)] was found, which is one of the common features in hematological 
      malignancies, and der(12)t(1;12) was found, suggesting that there might be an 
      additional ETV6/TEL fusion protein. The combination of SKY, I- and C-FISH 
      demonstrates that the neuroglioma cell line H4 harbors cytogenetic aberrations 
      that are reported to occur in glioma-derived cell lines and additional 
      chromosomal aberrations that have so far not been reported to occur in these cell 
      lines. The complex aberrant karyotype and possibly generation of transcription 
      factors by fusion proteins might be reasons for the impaired mRNA expression of 
      the LGI1 candidate tumor-suppressor gene in cell line H4.
FAU - Krex, D
AU  - Krex D
AD  - Department of Neurosurgery, University of Technology, Dresden, Germany.
FAU - Mohr, B
AU  - Mohr B
FAU - Hauses, M
AU  - Hauses M
FAU - Ehninger, G
AU  - Ehninger G
FAU - Schackert, H K
AU  - Schackert HK
FAU - Schackert, G
AU  - Schackert G
LA  - eng
PT  - Journal Article
PL  - United States
TA  - J Neurooncol
JT  - Journal of neuro-oncology
JID - 8309335
RN  - 0 (Core Binding Factor Alpha 2 Subunit)
RN  - 0 (DNA-Binding Proteins)
RN  - 0 (Neoplasm Proteins)
RN  - 0 (Proto-Oncogene Proteins)
RN  - 0 (RUNX1 protein, human)
RN  - 0 (Transcription Factors)
SB  - IM
MH  - Adult
MH  - *Astrocytoma
MH  - *Brain Neoplasms
MH  - *Chromosome Aberrations
MH  - Chromosome Deletion
MH  - Core Binding Factor Alpha 2 Subunit
MH  - DNA-Binding Proteins/genetics
MH  - Gene Duplication
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Male
MH  - Neoplasm Proteins/genetics
MH  - *Proto-Oncogene Proteins
MH  - Transcription Factors/genetics
MH  - Translocation, Genetic
MH  - Tumor Cells, Cultured
EDAT- 2001/08/18 10:00
MHDA- 2002/01/23 10:01
CRDT- 2001/08/18 10:00
PHST- 2001/08/18 10:00 [pubmed]
PHST- 2002/01/23 10:01 [medline]
PHST- 2001/08/18 10:00 [entrez]
AID - 10.1023/a:1010680920087 [doi]
PST - ppublish
SO  - J Neurooncol. 2001 Apr;52(2):119-28. doi: 10.1023/a:1010680920087.