title: Adult sclerosing rhabdomyosarcoma: cytogenetic link with embryonal rhabdomyosarcoma.
abstract: Rhabdomyosarcomas are classified into three well-defined categories: embryonal, alveolar and pleomorphic rhabdomyosarcoma. Recently, seven cases of an unusual adult type of rhabdomyosarcoma with a prominent hyaline sclerosis have been described. We report the hitherto unreported cytogenetic changes of an adult sclerosing rhabdomyosarcoma. A 79-year-old woman underwent an amputation for a rapidly growing soft tissue mass in the anterior compartment of the right lower leg. The tumor infiltrated the tibia. On histology, a fascicular spindle to round cell proliferation, embedded in a prominent hyaline matrix, was seen. Immunohistochemistry showed focal desmin, myogenin and MyOD1 expression, and electron microscopy revealed Z-band material. Cytogenetic analysis disclosed a 44-49,XX,+del(1)(p22)[2],+11,+16[5],+18[12],+21[3],-22 [cp13] karyotype. Using fluorescent in situ hybridization (FISH) analysis, the tumor cells were negative for FOXO1A-disrupting translocations specific for alveolar rhabdomyosarcoma. The chromosomal composition of malignant cells resembled the pattern of numerical changes frequently observed in embryonal rhabdomyosarcoma, suggesting a close relationship of an adult sclerosing rhabdomyosarcoma with this entity.
authors.affiliation: Department of Morphology and Molecular Pathology, University Hospitals, K.U. Leuven, Leuven, Belgium.
authors.forename: Romaric
authors.initials: R
authors.lastname: Croes
authors.forename: Maria
authors.initials: M
authors.lastname: Debiec-Rychter
authors.forename: Kristof
authors.initials: K
authors.lastname: Cokelaere
authors.forename: Rita
authors.initials: R
authors.lastname: De Vos
authors.forename: Anne
authors.initials: A
authors.lastname: Hagemeijer
authors.forename: Raf
authors.initials: R
authors.lastname: Sciot
mesh_terms: D000368:Aged; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D012208:Rhabdomyosarcoma / Q000145:classification / Q000235:genetics* / Q000473:pathology; D018233:Rhabdomyosarcoma, Embryonal / Q000235:genetics* / Q000473:pathology; D014178:Translocation, Genetic