Translocation (2;8)(q35;q13): a recurrent abnormality in congenital embryonal rhabdomyosarcoma.
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.
Meloni-Ehrig
Aurelia
A
Department of Cytogenetics, Quest Diagnostics Nichols Institute, 14225 Newbrook Drive, Chantilly, VA 20151, USA. aurelia.m.meloni-ehrig@questdiagnostics.com
Smith
Bridget
B
Zgoda
Joanna
J
Greenberg
Jay
J
Perdahl-Wallace
Eva
E
Zaman
Syed
S
Mowrey
Philip
P
D001706:Biopsy; D002869:Chromosome Aberrations; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D018233:Rhabdomyosarcoma, Embryonal / Q000151:congenital* / Q000235:genetics* / Q000473:pathology; D014178:Translocation, Genetic