Author/Authors :
Meloni-Ehrig، نويسنده , , Aurelia and Smith، نويسنده , , Bridget and Zgoda، نويسنده , , JoAnna and Greenberg، نويسنده , , Jay and Perdahl-Wallace، نويسنده , , Eva and Zaman، نويسنده , , Syed and Mowrey، نويسنده , , Philip، نويسنده ,
Abstract :
We report a case of congenital embryonal rhabdomyosarcoma (ERMS), a rare form of rhabdomyosarcoma, featuring a karyotype with a t(2;8)(q35;q13) in a 2-week-old male infant. This is the third reported case of congenital ERMS with cytogenetic findings. The previous cases also showed a similar or possibly identical translocation. We postulate that the t(2;8)(q35;q13) is a specific abnormality in congenital ERMS, and that it involves the PAX3 gene at 2q35 and a non-yet identified gene at 8q13.
