PMID- 10787031
OWN - NLM
STAT- MEDLINE
DCOM- 20000608
LR  - 20190812
IS  - 0001-6322 (Print)
IS  - 0001-6322 (Linking)
VI  - 99
IP  - 4
DP  - 2000 Apr
TI  - Characterization of chromosome 17 abnormalities in medulloblastomas.
PG  - 345-51
AB  - Loss of portions of chromosome 17p, usually through the formation of i(17qp) is a 
      well-known finding in medulloblastomas. Loss of heterozygosity (LOH) studies, 
      however, occasionally demonstrate loss of the more distal portions of 17p, a 
      pattern which is more consistent with a terminal deletion. Here we use a 
      combination of routine karyotyping, fluorescence in situ hybridization (FISH) and 
      LOH studies on four medulloblastoma cell lines and one xenograft to demonstrate 
      the spectrum of chromosome 17 abnormalities which occur in these tumors. Cell 
      line D-556 Med showed a typical dicentric i(17q) and cell line D-721 Med showed 
      two normal copies of chromosome 17 by all methods. Cell line D-425 Med showed 
      loss of terminal 17p by LOH, while the karyotype showed what appeared to be an 
      i(17q). FISH and chromosome 17 painting, however, demonstrated that the abnormal 
      chromosome 17 was actually formed through an unbalanced translocation involving 
      two copies of chromosome 17, with breakpoints at p12 and q11-1, an explanation 
      which reconciled the cytogenetic and LOH findings. Cell line D 581 Med had a 
      terminal deletion at 17p11.2. The finding of two cells with i(17q) in this case 
      by interphase FISH suggests that the terminal deletion arose from breakage of an 
      i(17q). Finally, xenograft D 690 Med showed LOH for regions distal to 17p12, 
      whereas karyotyping, FISH using probes on 17p, and chromosome 17 painting showed 
      two intact copies of chromosome 17. This pattern can be explained by homologous 
      recombination. These data support the concept that the critical deletion of 17p 
      can occur through a variety of mechanisms in the medulloblastoma. The losses may 
      occur through typical i(17q), as well as other mechanisms such as terminal 
      deletions, possibly through breakage of i(17q), unbalanced translocations and 
      homologous recombination.
FAU - Aldosari, N
AU  - Aldosari N
AD  - Department of Pathology, Duke University Medical Center, Durham, NC 27710, USA.
FAU - Rasheed, B K
AU  - Rasheed BK
FAU - McLendon, R E
AU  - McLendon RE
FAU - Friedman, H S
AU  - Friedman HS
FAU - Bigner, D D
AU  - Bigner DD
FAU - Bigner, S H
AU  - Bigner SH
LA  - eng
GR  - CA68119/CA/NCI NIH HHS/United States
PT  - Journal Article
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - Germany
TA  - Acta Neuropathol
JT  - Acta neuropathologica
JID - 0412041
SB  - IM
MH  - Adolescent
MH  - Cerebellar Neoplasms/*genetics
MH  - Child
MH  - Child, Preschool
MH  - Chromosome Aberrations/*genetics
MH  - Chromosome Banding
MH  - Chromosome Disorders
MH  - Chromosomes, Human, Pair 17/*genetics
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Male
MH  - Medulloblastoma/*genetics
MH  - Tumor Cells, Cultured
EDAT- 2000/04/29 09:00
MHDA- 2000/06/10 09:00
CRDT- 2000/04/29 09:00
PHST- 2000/04/29 09:00 [pubmed]
PHST- 2000/06/10 09:00 [medline]
PHST- 2000/04/29 09:00 [entrez]
AID - 10.1007/s004010051134 [doi]
PST - ppublish
SO  - Acta Neuropathol. 2000 Apr;99(4):345-51. doi: 10.1007/s004010051134.