A novel PAX3 rearrangement in embryonal rhabdomyosarcoma.
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.
Hosoi
Hajime
H
Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan.
Kakazu
Naoki
N
Konishi
Eiichi
E
Tsuchihashi
Yasunari
Y
Hada
Satoshi
S
Amaya
Eriko
E
Nakabayahi
Yoshinobu
Y
Misawa-Furihata
Akiko
A
Tabata-Maruyama
Hiroko
H
Iehara
Tomoko
T
Sugimoto
Tohru
T
Yamane
Humitsugu
H
Yamasaki
Masayuki
M
Shiwaku
Kuninori
K
Yanagisawa
Akio
A
Ono
Megumi
M
Tokiwa
Kazuaki
K
Iwai
Naomi
N
Hashiba
Mitsuoki
M
Abe
Tatsuo
T
Sawada
Tadashi
T
D020732:Cytogenetic Analysis; D004252:DNA Mutational Analysis; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D015514:Oncogene Proteins, Fusion / Q000235:genetics; D000072041:PAX3 Transcription Factor; D051761:Paired Box Transcription Factors / Q000235:genetics*; D011993:Recombinant Fusion Proteins / Q000032:analysis / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction; D018233:Rhabdomyosarcoma, Embryonal / Q000235:genetics*; D014565:Urogenital Neoplasms / Q000235:genetics*
D015514:Oncogene Proteins, Fusion; D000072041:PAX3 Transcription Factor; C489409:PAX3 protein, human; C471563:PAX3-FOXO1A fusion protein, human; D051761:Paired Box Transcription Factors; D011993:Recombinant Fusion Proteins