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.
Pressey
Joseph G
JG
Department of Pediatrics, Division of Hematology-Oncology, University of Alabama at Birmingham, 1600 7th Avenue South, ACC 512, Birmingham, AL 35233, USA. jpressey@uab.edu
Mroczek-Musulman
Elizabeth
E
Murata-Collins
Joyce L
JL
Saito
Jacqueline M
JM
Hammers
Yuki
Y
D001706:Biopsy; D002871:Chromosome Banding; D002874:Chromosome Mapping; D002889:Chromosomes, Human, Pair 2; D002896:Chromosomes, Human, Pair 6; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D018233:Rhabdomyosarcoma, Embryonal / Q000235:genetics* / Q000473:pathology / Q000532:radiotherapy*; D014178:Translocation, Genetic / Q000235:genetics*; D016896:Treatment Outcome