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Title: Adult sclerosing rhabdomyosarcoma: cytogenetic link with embryonal rhabdomyosarcoma
Authors: Croes, Romaric ×
Debiec-Rychter, Maria
Cokelaere, Kristof
De Vos, Rita
Hagemeijer-Hausman, Anne
Sciot, Raphael #
Issue Date: Jan-2005
Series Title: Virchows Archiv vol:446 issue:1 pages:64-7
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.
ISSN: 0945-6317
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Translational Cell & Tissue Research
Laboratory for Genetics of Malignant Disorders
× corresponding author
# (joint) last author

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