title: A novel PAX3 rearrangement in embryonal rhabdomyosarcoma.
abstract: 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.
authors.affiliation: Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan.
authors.forename: Hajime
authors.initials: H
authors.lastname: Hosoi
authors.forename: Naoki
authors.initials: N
authors.lastname: Kakazu
authors.forename: Eiichi
authors.initials: E
authors.lastname: Konishi
authors.forename: Yasunari
authors.initials: Y
authors.lastname: Tsuchihashi
authors.forename: Satoshi
authors.initials: S
authors.lastname: Hada
authors.forename: Eriko
authors.initials: E
authors.lastname: Amaya
authors.forename: Yoshinobu
authors.initials: Y
authors.lastname: Nakabayahi
authors.forename: Akiko
authors.initials: A
authors.lastname: Misawa-Furihata
authors.forename: Hiroko
authors.initials: H
authors.lastname: Tabata-Maruyama
authors.forename: Tomoko
authors.initials: T
authors.lastname: Iehara
authors.forename: Tohru
authors.initials: T
authors.lastname: Sugimoto
authors.forename: Humitsugu
authors.initials: H
authors.lastname: Yamane
authors.forename: Masayuki
authors.initials: M
authors.lastname: Yamasaki
authors.forename: Kuninori
authors.initials: K
authors.lastname: Shiwaku
authors.forename: Akio
authors.initials: A
authors.lastname: Yanagisawa
authors.forename: Megumi
authors.initials: M
authors.lastname: Ono
authors.forename: Kazuaki
authors.initials: K
authors.lastname: Tokiwa
authors.forename: Naomi
authors.initials: N
authors.lastname: Iwai
authors.forename: Mitsuoki
authors.initials: M
authors.lastname: Hashiba
authors.forename: Tatsuo
authors.initials: T
authors.lastname: Abe
authors.forename: Tadashi
authors.initials: T
authors.lastname: Sawada
mesh_terms: 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*
chemical_list: 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