Translocation (2;8)(q35;q13): a recurrent abnormality in congenital embryonal rhabdomyosarcoma

Cancer Genet Cytogenet. 2009 May;191(1):43-5. doi: 10.1016/j.cancergencyto.2009.01.010.

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.

Publication types

  • Case Reports

MeSH terms

  • Biopsy
  • Chromosome Aberrations*
  • Chromosomes, Human, Pair 1 / genetics*
  • Chromosomes, Human, Pair 19 / genetics*
  • Humans
  • Infant, Newborn
  • Karyotyping
  • Male
  • Rhabdomyosarcoma, Embryonal / congenital*
  • Rhabdomyosarcoma, Embryonal / genetics*
  • Rhabdomyosarcoma, Embryonal / pathology
  • Translocation, Genetic*