title: Cytogenetic-clinicopathologic correlations in rhabdomyosarcoma: a report of five cases.
abstract: Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma in children younger than the age of 15 years. Histologically, RMS can be subdivided into two major subtypes; embryonal (E-RMS) and alveolar (A-RMS) rhabdomyosarcoma, with E-RMS being the more common. Although cytogenetic and molecular genetic findings have been reported extensively for RMS, clinicopathologic-genetic correlations among these tumors have not been reported in detail. In this report, we correlate the cytogenetic findings, including fluorescence in situ hybridization and spectral karyotyping, with pathologic findings and outcome for five RMS, including two A-RMS, one E-RMS, one botryoid RMS, and one anaplastic nonclassified RMS (N-RMS). The findings in A-RMS and E-RMS generally were consistent with previous reports; however, gain of chromosome 7 in A-RMS and gain of chromosome 9 segments in E-RMS observed here have seldom been reported in the literature. Importantly, the botryoid RMS had a cytogenetic profile similar to other types of E-RMS. An add(11)(q21) observed in this tumor, together with a t(8;11)(q12 approximately 13;q21) reported previously, indicates that 11q21 rearrangements may be nonrandomly related to botryoid RMS. In addition, the N-RMS expressed a cytogenetic pattern similar to that observed in E-RMS, thus providing genetic evidence that anaplastic N-RMS is a variant of E-RMS. Finally, these cases provide cogent evidence for the diagnostic and prognostic significance of the pathologic-genetic classification of RMS.
authors.affiliation: Cytogenetics Laboratory, Room 1C210 SOM, Department of Pediatrics, Division of Medical Genetics, University of Utah School of Medicine, Salt Lake City, UT 84132, USA. zhong.chen@hsc.utah.edu
authors.forename: Z
authors.initials: Z
authors.lastname: Chen
authors.forename: C M
authors.initials: CM
authors.lastname: Coffin
authors.forename: L M
authors.initials: LM
authors.lastname: Smith
authors.forename: B
authors.initials: B
authors.lastname: Issa
authors.forename: S
authors.initials: S
authors.lastname: Arndt
authors.forename: R
authors.initials: R
authors.lastname: Shepard
authors.forename: L
authors.initials: L
authors.lastname: Brothman
authors.forename: J
authors.initials: J
authors.lastname: Stratton
authors.forename: A R
authors.initials: AR
authors.lastname: Brothman
authors.forename: H
authors.initials: H
authors.lastname: Zhou
mesh_terms: D000293:Adolescent; D000328:Adult; D002675:Child, Preschool; D002869:Chromosome Aberrations; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007621:Karyotyping; D008297:Male; D020133:Reverse Transcriptase Polymerase Chain Reaction; D012208:Rhabdomyosarcoma / Q000235:genetics* / Q000473:pathology*