PMID- 12192498
OWN - NLM
STAT- MEDLINE
DCOM- 20021231
LR  - 20041117
IS  - 0256-7040 (Print)
IS  - 0256-7040 (Linking)
VI  - 18
IP  - 8
DP  - 2002 Aug
TI  - Cytogenetic evaluation of isochromosome 17q in posterior fossa tumors of children 
      and correlation with clinical outcome in medulloblastoma. Detection of a novel 
      chromosomal abnormality.
PG  - 380-4
AB  - BACKGROUND: A number of chromosomal abnormalities have been described in the 
      presence of central nervous system tumors; isochromosome 17q, representing a loss 
      of heterozygosity for the short arm of the chromosome 17, is the one most 
      frequently reported in association with medulloblastoma. The purpose of this 
      study was to evaluate the prognostic correlation of this variable, compared with 
      other variables (surgery extent and radiotherapy), with survival. METHODS AND 
      RESULTS: We looked for the presence of i(17q) in 32 children affected by 
      posterior fossa tumors, including 16 medulloblastomas and 2 teratoid/rhabdoid 
      tumors. For our study we used both karyotypic analysis and the fluorescence in 
      situ hybridization (FISH) procedure, both on fresh and on paraffin-embedded 
      tissues. Cytogenetic analysis allowed us to detect a hitherto unreported 
      abnormality in medulloblastoma: ins(1;10)(q31;q23q26). Moreover, 16 of the 32 
      patients analyzed by FISH were found to be positive for the presence of i(17q): 
      the 2 with teratoid/rhabdoid tumors, 11 of 16 with medulloblastomas, plus 1 with 
      ependymoblastoma and 2 with anaplastic astrocytomas. As far as the outcome of 
      medulloblastoma patients is concerned, we found that 8 out of the 10 children 
      whose tumor had been totally removed had a favorable outcome regardless of the 
      presence of i(17q): 4 were i(17q) positive and 4 i(17q) negative. CONCLUSIONS: 
      Although it was impossible to draw any definitive conclusion about detection of 
      i(17q) in central nervous system tumors in infancy, particularly in the case of 
      medulloblastoma, we suggest that this chromosomal abnormality is not an 
      independent prognostic factor, but may be a marker for uncontrolled cell 
      proliferation.
FAU - DeChiara, Carolina
AU  - DeChiara C
AD  - Department of Pediatrics, Faculty of Medicine, University Federico II of Naples, 
      Via S. Pansini, 5, 80131 Naples, Italy.
FAU - Borghese, Annamaria
AU  - Borghese A
FAU - Fiorillo, Amedeo
AU  - Fiorillo A
FAU - Genesio, Rita
AU  - Genesio R
FAU - Conti, Anna
AU  - Conti A
FAU - D'Amore, Rosa
AU  - D'Amore R
FAU - Pettinato, Guido
AU  - Pettinato G
FAU - Varone, Antonio
AU  - Varone A
FAU - Maggi, Giuseppe
AU  - Maggi G
LA  - eng
PT  - Journal Article
DEP - 20020727
PL  - Germany
TA  - Childs Nerv Syst
JT  - Child's nervous system : ChNS : official journal of the International Society for 
      Pediatric Neurosurgery
JID - 8503227
SB  - IM
MH  - Cerebellar Neoplasms/*genetics/pathology
MH  - Child
MH  - Child, Preschool
MH  - Chromosome Aberrations
MH  - Chromosomes, Human, Pair 17/*genetics
MH  - Cytogenetics/methods
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Infratentorial Neoplasms/*genetics/pathology
MH  - Interphase/genetics
MH  - Isochromosomes/*genetics
MH  - Karyotyping
MH  - Male
MH  - Medulloblastoma/*genetics/pathology
MH  - Prognosis
MH  - Tumor Cells, Cultured
EDAT- 2002/08/23 10:00
MHDA- 2003/01/01 04:00
CRDT- 2002/08/23 10:00
PHST- 2001/10/02 00:00 [received]
PHST- 2002/03/20 00:00 [revised]
PHST- 2002/08/23 10:00 [pubmed]
PHST- 2003/01/01 04:00 [medline]
PHST- 2002/08/23 10:00 [entrez]
AID - 10.1007/s00381-002-0617-9 [doi]
PST - ppublish
SO  - Childs Nerv Syst. 2002 Aug;18(8):380-4. doi: 10.1007/s00381-002-0617-9. Epub 2002 
      Jul 27.