PMID- 11807989
OWN - NLM
STAT- MEDLINE
DCOM- 20020301
LR  - 20191025
IS  - 1045-2257 (Print)
IS  - 1045-2257 (Linking)
VI  - 33
IP  - 3
DP  - 2002 Mar
TI  - Genomic gains and losses are similar in genetic and histologic subsets of 
      rhabdomyosarcoma, whereas amplification predominates in embryonal with anaplasia 
      and alveolar subtypes.
PG  - 310-21
AB  - In this investigation, we selected PAX3/FKHR and PAX7/FKHR fusion 
      transcript-positive and -negative alveolar rhabdomyosarcomas (ARMSs) and 
      embryonal rhabdomyosarcomas (ERMSs) with and without anaplastic features, to 
      ascertain genomic imbalance differences and/or similarities within these 
      histopathologic and genetic rhabdomyosarcoma (RMS) variants. Comparative genomic 
      hybridization (CGH) and fluorescence in situ hybridization (FISH) studies were 
      performed on 45 rhabdomyosarcoma specimens consisting of 23 ARMSs and 22 ERMSs 
      (12 ERMS cases were included from an earlier study). The anaplastic variant of 
      RMS has not previously been subjected to CGH analysis. Overall, the most 
      prominent imbalances were gain of chromosomes or chromosomal regions 2/2q (40%), 
      7/7q (31%), 8/8p (53%), 11/11q (31%), 12q13-15 (49%), 13q14 (22%), and 20/20p 
      (31%), and loss of 1p36 (27%), 3p14-21 (22%), 9q21-22 (33%), 10q22-qter (18%), 
      16q (27%), 17p (22%), and 22 (22%). These gains and losses were distributed 
      equally between ARMS and ERMS histologic subtypes (excluding 7/7q and 11/11q gain 
      that were observed chiefly in ERMS), demonstrating that these entities are 
      similar with respect to recurrent genomic imbalances. Moreover, genomic 
      imbalances were also evenly distributed among the ARMS fusion transcript 
      subtypes, providing evidence for a genetic kinship despite the absence of a 
      fusion transcript in some cases. Genomic amplification was detected in 26% and 
      23% of the ARMS and ERMS cases, respectively (with nearly all of the latter 
      subset exhibiting anaplastic features). One amplicon, involving 15q25-26, 
      corresponds to the locus of the insulin-like growth factor type I receptor 
      (IGF1R) gene. Amplification of IGF1R was confirmed molecularly in the cases 
      exhibiting a 15q25-26 amplicon. In summary, these results indicate that genomic 
      gains and losses involve alike chromosomes with similar frequencies within the 
      histopathologic and genetic subtypes of rhabdomyosarcoma, that genomic 
      amplification is frequent not only in the alveolar histologic subtype of 
      rhabdomyosarcoma but also in ERMS with anaplasia, and that amplification of IGF1R 
      possibly plays a role in the development or progression of a subset of 
      rhabdomyosarcomas.
CI  - Copyright 2002 Wiley-Liss, Inc.
FAU - Bridge, Julia A
AU  - Bridge JA
AD  - Department of Pathology and Microbiology, University of Nebraska Medical Center, 
      Omaha, NE 68198, USA. jbridge@unmc.edu
FAU - Liu, Jian
AU  - Liu J
FAU - Qualman, Stephen J
AU  - Qualman SJ
FAU - Suijkerbuijk, Ron
AU  - Suijkerbuijk R
FAU - Wenger, Gail
AU  - Wenger G
FAU - Zhang, Ji
AU  - Zhang J
FAU - Wan, Xiaoying
AU  - Wan X
FAU - Baker, K Scott
AU  - Baker KS
FAU - Sorensen, Poul
AU  - Sorensen P
FAU - Barr, Frederic G
AU  - Barr FG
LA  - eng
GR  - CA24507/CA/NCI NIH HHS/United States
GR  - CA64202/CA/NCI NIH HHS/United States
GR  - CA81659/CA/NCI NIH HHS/United States
GR  - CA89461/CA/NCI NIH HHS/United States
PT  - Comparative Study
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Genes Chromosomes Cancer
JT  - Genes, chromosomes & cancer
JID - 9007329
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Anaplasia/*genetics/pathology
MH  - Child
MH  - Child, Preschool
MH  - *Chromosome Deletion
MH  - Cytogenetic Analysis
MH  - Female
MH  - Gene Amplification/*genetics
MH  - Head and Neck Neoplasms/genetics/pathology
MH  - Humans
MH  - Immunohistochemistry
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Male
MH  - Nucleic Acid Hybridization
MH  - Polymerase Chain Reaction
MH  - Reverse Transcriptase Polymerase Chain Reaction
MH  - Rhabdomyosarcoma, Alveolar/*genetics/pathology
MH  - Rhabdomyosarcoma, Embryonal/*genetics/pathology
EDAT- 2002/01/25 10:00
MHDA- 2002/03/02 10:01
CRDT- 2002/01/25 10:00
PHST- 2002/01/25 10:00 [pubmed]
PHST- 2002/03/02 10:01 [medline]
PHST- 2002/01/25 10:00 [entrez]
AID - 10.1002/gcc.10026 [pii]
AID - 10.1002/gcc.10026 [doi]
PST - ppublish
SO  - Genes Chromosomes Cancer. 2002 Mar;33(3):310-21. doi: 10.1002/gcc.10026.