PMID- 12880963
OWN - NLM
STAT- MEDLINE
DCOM- 20030923
LR  - 20190720
IS  - 0304-3835 (Print)
IS  - 0304-3835 (Linking)
VI  - 197
IP  - 1-2
DP  - 2003 Jul 18
TI  - der(11)t(11;17): a distinct cytogenetic pathway of advanced stage neuroblastoma 
      (NBL) - detected by spectral karyotyping (SKY).
PG  - 75-9
AB  - Conventional cytogenetic, molecular cytogenic and genetic methods disclosed a 
      broad spectrum of genetic abnormalities leading to gain and loss of chromosomal 
      segments in advanced stage neuroblastoma (NBL). Specific correlation between the 
      genetic findings could delineate distinct genetic pathways, of which the biology 
      and prognostic significance is as yet undetermined. Using spectral karyotyping 
      (SKY) and fluorescence in situ hybridization (FISH) on metaphases from 16 
      patients with advanced stage NBL, it was possible to explore the whole spectrum 
      of rearrangement within complex karyotypes and to detect hidden recurrent 
      translocations. All translocations were unbalanced. The most prevalent recurrent 
      unbalanced translocations resulted in 17q gain in 12 patients (75%), 11q loss in 
      nine patients (56%), and 1p deletion/imbalance in eight patients (50%). The most 
      frequent recurrent translocation was der(11)t(11;17) in six patients. Three 
      cytogenetic pathways could be delineated. The first, with six patients, was 
      characterized by the unbalanced translocation der(11)t(11;17), detected only by 
      SKY, resulting in the concomitant 17q gain and 11q loss. No MYCN amplification or 
      1p deletion (except one patient with 1p imbalance) were found, while 3p deletion, 
      and complex karyotypes were common. The second subgroup, with four patients, had 
      17q gain and 1p deletion, and in two patients 11q loss, that was apparent only by 
      FISH. 1p deletion occurred through der(1)t(1;17) or del(1p). The third subgroup 
      of four patients was characterized by MYCN amplification with 17q gain and 1p 
      deletion, very rarely with 11q loss (one patient) through a translocation with a 
      non-17q partner. The SKY subclassifications were in accordance with the findings 
      reported by molecular genetic techniques, and may indicate that distinct 
      oncogenes and suppressor genes are involved in the der(11)t(11;17) pathway of 
      advanced stage NBL.
FAU - Stark, Batia
AU  - Stark B
AD  - Schneider Children's Medical Center of Israel, Tel Aviv University, Tel Aviv, 
      Israel. bstark@clalit.org.il
FAU - Jeison, Marta
AU  - Jeison M
FAU - Glaser-Gabay, Leticia
AU  - Glaser-Gabay L
FAU - Bar-Am, Irit
AU  - Bar-Am I
FAU - Mardoukh, Jacques
AU  - Mardoukh J
FAU - Ash, Shifra
AU  - Ash S
FAU - Atias, Dina
AU  - Atias D
FAU - Stein, Jerry
AU  - Stein J
FAU - Zaizov, Rina
AU  - Zaizov R
FAU - Yaniv, Isaac
AU  - Yaniv I
LA  - eng
PT  - Journal Article
PT  - Review
PL  - Ireland
TA  - Cancer Lett
JT  - Cancer letters
JID - 7600053
SB  - IM
MH  - *Chromosome Aberrations
MH  - Chromosomes, Human, Pair 11/*genetics
MH  - Chromosomes, Human, Pair 17/*genetics
MH  - Gene Rearrangement/genetics
MH  - Genetic Carrier Screening
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Neuroblastoma/*genetics/pathology
MH  - Prognosis
MH  - Spectral Karyotyping/methods
MH  - *Translocation, Genetic
RF  - 15
EDAT- 2003/07/26 05:00
MHDA- 2003/09/25 05:00
CRDT- 2003/07/26 05:00
PHST- 2003/07/26 05:00 [pubmed]
PHST- 2003/09/25 05:00 [medline]
PHST- 2003/07/26 05:00 [entrez]
AID - S0304383503000831 [pii]
AID - 10.1016/s0304-3835(03)00083-1 [doi]
PST - ppublish
SO  - Cancer Lett. 2003 Jul 18;197(1-2):75-9. doi: 10.1016/s0304-3835(03)00083-1.