Adult sclerosing rhabdomyosarcoma: cytogenetic link with embryonal rhabdomyosarcoma
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),+11,+16,+18,+21,-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.
KeywordsSclerosing rhabdomyosarcoma Embryonal rhabdomyosarcoma Adults Cytogenetic analysis Immunohistochemistry
This text presents research results of the Belgian program on Interuniversity Poles of Attraction initiated by the Belgian Sate, Prime Minister’s Office, Science Policy Programming. Its authors assume the scientific responsibility. The authors would like to acknowledge the COST support through the COST ACTION B19 “Molecular cytogenetics of solid tumors” in carrying out this work. Belinda Carleer and Lut Mekers are acknowledged for their excellent technical assistance. We thank Dr. C.D.M. Fletcher (Boston) for confirming the diagnosis.
- 2.Bridge J A, Liu J, Weibolt V, Baker KS, Perry D, Kruger R, Qualman S, Barr F, Sorensen P, Triche T, Suijkerbuijk R (2000) Novel genomic imbalances in embryonal rhabdomyosarcoma revealed by comparative genomic hybridization and fluorescence in situ hybridization: an intergroup rhabdomyosarcoma study. Genes Chromosomes Cancer 27:337–344CrossRefPubMedGoogle Scholar
- 8.Mitelman F, Johansson B, Mertens F (eds) (2004) Mitelman database of chromosome aberrations in cancer. John Wiley & Sons, Inc., New YorkGoogle Scholar