PMID- 10969942
OWN - NLM
STAT- MEDLINE
DCOM- 20000914
LR  - 20061115
IS  - 0022-3085 (Print)
IS  - 0022-3085 (Linking)
VI  - 93
IP  - 3
DP  - 2000 Sep
TI  - Molecular cytogenetic analysis of medulloblastomas and supratentorial primitive 
      neuroectodermal tumors by using conventional banding, comparative genomic 
      hybridization, and spectral karyotyping.
PG  - 437-48
AB  - OBJECT: Medulloblastomas and related primitive neuroectodermal tumors (PNETs) of 
      the central nervous system are malignant, invasive embryonal tumors with 
      predominantly neuronal differentiation that comprise 20% of pediatric brain 
      tumors. Cytogenetic analysis has shown that alterations in chromosome 17, 
      particularly the loss of 17p and the formation of isochromosome 17q, as well as 
      the gain of chromosome 7 are the most common changes among this group of tumors. 
      Comparative genomic hybridization (CGH) studies have largely confirmed these 
      cytogenetic findings and have also identified novel regions of gain, loss, and 
      amplification. The advent of more sophisticated multicolored fluorescence in situ 
      hybridization (FISH) procedures such as spectral karyotyping (SKY) now permits 
      complete recognition of all aberrations including extremely complex 
      rearrangements. The authors report a retrospective analysis of 19 medulloblastoma 
      and five PNET cases studied using combinations of classic banding analysis, FISH, 
      CGH, and SKY to examine comprehensively the chromosomal aberrations present in 
      this tumor group and to attempt to identify common structural rearrangement(s). 
      METHODS: The CGH data demonstrate gains of chromosomes 17q and 7 in 60% of the 
      tumors studied, which confirms data reported in the current literature. However, 
      the authors have also combined the results of all three molecular cytogenetic 
      assays (Giemsa banding, CGH, and SKY) to reveal the frequency of chromosomal 
      rearrangement (gained, lost, or involved in structural rearrangement). 
      CONCLUSIONS: The combined results indicate that chromosomes 7 and 17 are the most 
      frequently rearranged chromosomes (10.1% and 8.9%, respectively, in all 
      rearrangements detected). Furthermore, chromosomes 3 (7.8%), 14 (7%), 10 (6.7%), 
      and 22 (6.5%) were also found to be frequently rearranged, followed by 
      chromosomes 6 (6.5%), 13 (6.2%), and 18 (6.2%). Eight (33%) of 24 tumors 
      exhibited high-level gains or gene amplification. Amplification of MYCN was 
      identified in four tumors, whereas amplification of MYCC was identified in one 
      tumor. One tumor exhibited a high-level gain of chromosome 9p. Additionally, 
      desmoplastic medulloblastomas and large-cell medulloblastomas exhibited higher 
      karyotype heterogeneity, amplification, and aneusomy than classic 
      medulloblastomas.
FAU - Bayani, J
AU  - Bayani J
AD  - University Health Network, Hospital for Sick Children, and Department of 
      Laboratory Medicine and Pathobiology and Medical Biophysics, Faculty of Medicine, 
      University of Toronto, Ontario, Canada.
FAU - Zielenska, M
AU  - Zielenska M
FAU - Marrano, P
AU  - Marrano P
FAU - Kwan Ng, Y
AU  - Kwan Ng Y
FAU - Taylor, M D
AU  - Taylor MD
FAU - Jay, V
AU  - Jay V
FAU - Rutka, J T
AU  - Rutka JT
FAU - Squire, J A
AU  - Squire JA
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - J Neurosurg
JT  - Journal of neurosurgery
JID - 0253357
SB  - IM
MH  - Brain Neoplasms/*genetics
MH  - Child
MH  - Child, Preschool
MH  - Chromosomes, Human, Pair 17/*genetics
MH  - Chromosomes, Human, Pair 7/*genetics
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Karyotyping
MH  - Male
MH  - Medulloblastoma/*genetics
MH  - Neuroectodermal Tumors, Primitive/*genetics
MH  - Supratentorial Neoplasms/*genetics
EDAT- 2000/09/02 11:00
MHDA- 2000/09/19 11:01
CRDT- 2000/09/02 11:00
PHST- 2000/09/02 11:00 [pubmed]
PHST- 2000/09/19 11:01 [medline]
PHST- 2000/09/02 11:00 [entrez]
AID - 10.3171/jns.2000.93.3.0437 [doi]
PST - ppublish
SO  - J Neurosurg. 2000 Sep;93(3):437-48. doi: 10.3171/jns.2000.93.3.0437.