Author/Authors :
Hosoi، نويسنده , , Hajime and Kakazu، نويسنده , , Naoki and Konishi، نويسنده , , Eiichi and Tsuchihashi، نويسنده , , Yasunari and Hada، نويسنده , , Satoshi and Amaya، نويسنده , , Eriko and Nakabayahi، نويسنده , , Yoshinobu and Misawa-Furihata، نويسنده , , Akiko and Tabata-Maruyama، نويسنده , , Hiroko and Iehara، نويسنده , , Tomoko and Sugimoto، نويسنده , , Tohru and Yamane، نويسنده , , Humitsugu ، نويسنده ,
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.
s 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.
