title: Karyotypic characterization of infant embryonal rhabdomyosarcoma.
abstract: Despite embryonal rhabdomyosarcoma (eRMS) representing the most frequent form of RMS, the karyotypic characterization of this tumor subtype is still incomplete. We report the karyotypic analysis of two new cases of infant-onset eRMS. Both cases had a hyperdiploid karyotype, including gain of chromosomes 2 and 8. Only one of the cases showed a structural aberration, an unbalanced rearrangement involving 4p. These cases, together with a review of the literature, suggest that a karyotypic subgroup exists in infant eRMS that is defined by hyperdiploidy (<53 chromosomes) and includes gain of chromosomes 2, 8, 11, and 17, with few or no structural aberrations. Hence, this report illustrates that distinct karyotypic subgroups may be found in eRMS, which ultimately may be shown to have prognostic relevance.
authors.affiliation: Department of Oncology, University Children's Hospital, Steinwiesstrasse 75, Zurich CH-8032, Switzerland.
authors.forename: Andrea
authors.initials: A
authors.lastname: Muntean
authors.forename: Eva
authors.initials: E
authors.lastname: Bergsträsser
authors.forename: Miriam
authors.initials: M
authors.lastname: Diepold
authors.forename: Felix K
authors.initials: FK
authors.lastname: Niggli
authors.forename: David R
authors.initials: DR
authors.lastname: Betts
mesh_terms: D002869:Chromosome Aberrations; D005134:Eye Neoplasms / Q000235:genetics*; D017809:Fatal Outcome; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D011471:Prostatic Neoplasms / Q000235:genetics*; D018233:Rhabdomyosarcoma, Embryonal / Q000235:genetics*