Embryonal rhabdomyosarcoma with a novel t(2;6)(p23;p21.1)

Chromosomal translocations are infrequently encountered in embryonal rhabdomyosarcoma (E-RMS). Here, we present a case of an infant with a chest wall E-RMS in which t(2;6)(p23;p21.1) was detected. Despite the involvement of the 2p23 locus in the translocation, the tumor did not express ALK. The t(2;6)(p23;p21.1) is a novel finding in E-RMS that may provide insight into the pathogenesis of this relatively frequent childhood tumor.