PMID- 10696121
OWN - NLM
STAT- MEDLINE
DCOM- 20000321
LR  - 20190905
IS  - 0098-1532 (Print)
IS  - 0098-1532 (Linking)
VI  - 34
IP  - 3
DP  - 2000 Mar
TI  - Cytogenetics of hepatoblastoma: further characterization of 1q rearrangements by 
      fluorescence in situ hybridization: an international collaborative study.
PG  - 165-70
AB  - BACKGROUND: Hepatoblastoma (HBT) is the most common hepatic neoplasm in children. 
      This notwithstanding, little is known about pathogenetic factors, such as genetic 
      abnormalities, of importance for the development and progression of this tumor 
      type. To date, only 33 cytogenetically abnormal HBT have been published, and 
      trisomies for chromosomes 2 and 20 have been shown to be the most frequent 
      aberrations. Recently, unbalanced translocations involving proximal 1q have been 
      described in several HBT, suggesting that a pathogenetically important gene maps 
      to 1q. PROCEDURE: Six primary and one recurrent HBT were cytogenetically analyzed 
      after short-term tissue culture. In addition, fluorescence in situ hybridization 
      (FISH) studies, using locus-specific probes, were performed on three of these 
      pediatric HBT as well as on one previously reported adult HBT. RESULTS: Total or 
      partial trisomy 8, gain of chromosome 20, and structural rearrangements of 
      chromosome 1 were detected in three HBT, and overrepresentation of chromosome 2 
      material was found in two HBT. The adjacent chromosome bands 1q12 and 1q21 were 
      involved in three translocations, t(1;2), t(1;4), and t(1;11), which were all 
      unbalanced and resulted in gain of 1q material. The previously reported adult HBT 
      displayed 1q deletions with breakpoints at 1q12-21. FISH analyses of the 1q 
      rearrangements revealed that all breakpoints were within the heterochromatic 
      region. CONCLUSIONS: These findings provide further support for the importance of 
      trisomies 2, 8, and 20 and rearrangements of 1q in the development of HBT. 
      Furthermore, the consistent localization of breakpoints within the 
      heterochromatic segment of chromosome 1 suggests that the important pathogenetic 
      consequence of 1q abnormalities is the resulting genomic imbalance rather than a 
      specific gene rearrangement.
FAU - Parada, L A
AU  - Parada LA
AD  - Department of Clinical Genetics, University Hospital, Lund, Sweden.
FAU - Limon, J
AU  - Limon J
FAU - Iliszko, M
AU  - Iliszko M
FAU - Czauderna, P
AU  - Czauderna P
FAU - Gisselsson, D
AU  - Gisselsson D
FAU - Hoglund, M
AU  - Hoglund M
FAU - Kullendorff, C M
AU  - Kullendorff CM
FAU - Wiebe, T
AU  - Wiebe T
FAU - Mertens, F
AU  - Mertens F
FAU - Johansson, B
AU  - Johansson B
LA  - eng
PT  - Journal Article
PT  - Multicenter Study
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Med Pediatr Oncol
JT  - Medical and pediatric oncology
JID - 7506654
SB  - IM
MH  - Child, Preschool
MH  - Chromosome Banding
MH  - Chromosomes, Human, Pair 1/*genetics
MH  - Chromosomes, Human, Pair 20/genetics
MH  - Chromosomes, Human, Pair 8/genetics
MH  - Female
MH  - Gene Rearrangement/*genetics
MH  - Hepatoblastoma/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - International Cooperation
MH  - Karyotyping
MH  - Liver Neoplasms/*genetics
MH  - Male
MH  - Trisomy/genetics
EDAT- 2000/03/01 09:00
MHDA- 2000/03/25 09:00
CRDT- 2000/03/01 09:00
PHST- 2000/03/01 09:00 [pubmed]
PHST- 2000/03/25 09:00 [medline]
PHST- 2000/03/01 09:00 [entrez]
AID - 10.1002/(SICI)1096-911X(200003)34:3<165::AID-MPO1>3.0.CO;2-T [pii]
AID - 10.1002/(sici)1096-911x(200003)34:3<165::aid-mpo1>3.0.co;2-t [doi]
PST - ppublish
SO  - Med Pediatr Oncol. 2000 Mar;34(3):165-70. doi: 
      10.1002/(sici)1096-911x(200003)34:3<165::aid-mpo1>3.0.co;2-t.