PMID- 19215790
OWN - NLM
STAT- MEDLINE
DCOM- 20090220
LR  - 20161125
IS  - 1873-4456 (Electronic)
IS  - 0165-4608 (Linking)
VI  - 189
IP  - 2
DP  - 2009 Mar
TI  - A novel PAX3 rearrangement in embryonal rhabdomyosarcoma.
PG  - 98-104
LID - 10.1016/j.cancergencyto.2008.10.016 [doi]
AB  - Rhabdomyosarcoma is the most common soft tissue tumor seen in children and young 
      adults, and it can be classified into 2 major histological subtypes, alveolar and 
      embryonal. In the alveolar subtype, 2 recurrent chromosomal translocations, 
      t(2;13)(q35;q14) and its variant t(1;13)(p36;q14), have been identified as the 
      specific cytogenetic abnormalities. These translocations produce the PAX3-FOXO1 
      and PAX7-FOXO1 fusion genes, respectively. In the embryonal subtype, however, no 
      recurrent chromosomal abnormalities have been identified. In this study, we 
      analyzed the complex chromosomal translocation in one case with embryonal 
      rhabdomyosarcoma by means of spectral karyotyping (SKY) and identified a novel 
      translocation involving chromosome band 2q35, which is the locus of PAX3 gene. 
      Furthermore, we identified the novel PAX3 rearrangement using fluorescence in 
      situ hybridization (FISH) analysis. Additional identification of the partner gene 
      may help disclose the molecular mechanism of the development of this embryonal 
      subtype.
FAU - Hosoi, Hajime
AU  - Hosoi H
AD  - Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan.
FAU - Kakazu, Naoki
AU  - Kakazu N
FAU - Konishi, Eiichi
AU  - Konishi E
FAU - Tsuchihashi, Yasunari
AU  - Tsuchihashi Y
FAU - Hada, Satoshi
AU  - Hada S
FAU - Amaya, Eriko
AU  - Amaya E
FAU - Nakabayahi, Yoshinobu
AU  - Nakabayahi Y
FAU - Misawa-Furihata, Akiko
AU  - Misawa-Furihata A
FAU - Tabata-Maruyama, Hiroko
AU  - Tabata-Maruyama H
FAU - Iehara, Tomoko
AU  - Iehara T
FAU - Sugimoto, Tohru
AU  - Sugimoto T
FAU - Yamane, Humitsugu
AU  - Yamane H
FAU - Yamasaki, Masayuki
AU  - Yamasaki M
FAU - Shiwaku, Kuninori
AU  - Shiwaku K
FAU - Yanagisawa, Akio
AU  - Yanagisawa A
FAU - Ono, Megumi
AU  - Ono M
FAU - Tokiwa, Kazuaki
AU  - Tokiwa K
FAU - Iwai, Naomi
AU  - Iwai N
FAU - Hashiba, Mitsuoki
AU  - Hashiba M
FAU - Abe, Tatsuo
AU  - Abe T
FAU - Sawada, Tadashi
AU  - Sawada T
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Cancer Genet Cytogenet
JT  - Cancer genetics and cytogenetics
JID - 7909240
RN  - 0 (Oncogene Proteins, Fusion)
RN  - 0 (PAX3 Transcription Factor)
RN  - 0 (PAX3 protein, human)
RN  - 0 (PAX3-FOXO1A fusion protein, human)
RN  - 0 (Paired Box Transcription Factors)
RN  - 0 (Recombinant Fusion Proteins)
SB  - IM
MH  - Cytogenetic Analysis
MH  - DNA Mutational Analysis
MH  - Humans
MH  - Infant
MH  - Male
MH  - *Mutation
MH  - Oncogene Proteins, Fusion/genetics
MH  - PAX3 Transcription Factor
MH  - Paired Box Transcription Factors/*genetics
MH  - Recombinant Fusion Proteins/analysis/genetics
MH  - Reverse Transcriptase Polymerase Chain Reaction
MH  - Rhabdomyosarcoma, Embryonal/*genetics
MH  - Urogenital Neoplasms/*genetics
EDAT- 2009/02/14 09:00
MHDA- 2009/02/21 09:00
CRDT- 2009/02/14 09:00
PHST- 2008/10/26 00:00 [received]
PHST- 2008/10/27 00:00 [accepted]
PHST- 2009/02/14 09:00 [entrez]
PHST- 2009/02/14 09:00 [pubmed]
PHST- 2009/02/21 09:00 [medline]
AID - S0165-4608(08)00656-0 [pii]
AID - 10.1016/j.cancergencyto.2008.10.016 [doi]
PST - ppublish
SO  - Cancer Genet Cytogenet. 2009 Mar;189(2):98-104. doi: 
      10.1016/j.cancergencyto.2008.10.016.