Virchows Archiv

, Volume 446, Issue 1, pp 64–67 | Cite as

Adult sclerosing rhabdomyosarcoma: cytogenetic link with embryonal rhabdomyosarcoma

  • Romaric Croes
  • Maria Debiec-Rychter
  • Kristof Cokelaere
  • Rita De Vos
  • Anne Hagemeijer
  • Raf Sciot
Case Report


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.


Sclerosing 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.


  1. 1.
    Barr FG, Nauta LE, Davis RJ, Schafer BW, Nycum LM, Biegel JA (1996) In vivo amplification of the PAX3-FKHR and PAX7-FKHR fusion genes in alveolar rhabdomyosarcoma. Hum Mol Genet 5:15–21CrossRefPubMedGoogle Scholar
  2. 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
  3. 3.
    Davis RJ, D’Cruz CM, Lovell MA, Biegel JA, Barr FG (1994) Fusion of PAX7 to FKHR by the variant t(1;13)(p36;q14) translocation in alveolar rhabdomyosarcoma. Cancer Res 54:2869–2872PubMedGoogle Scholar
  4. 4.
    Folpe AL, McKenney JK, Bridge JA, Weiss SW (2002) Sclerosing rhabdomyosarcoma in adults: report of four cases of a hyalinizing, matrix-rich variant of rhabdomyosarcoma that may be confused with osteosarcoma, chondrosarcoma, or angiosarcoma. Am J Surg Pathol 26:1175–1183CrossRefPubMedGoogle Scholar
  5. 5.
    Gordon T, McManus A, Anderson J, Min T, Swansbury J, Pritchard-Jones K, Shipley J (2001) Cytogenetic abnormalities in 42 rhabdomyosarcoma: a United Kingdom Cancer Cytogenetics Group Study. Med Pediatr Oncol 36:259–267PubMedGoogle Scholar
  6. 6.
    Kumar S, Perlman E, Harris CA, Raffeld M, Tsokos M (2000) Myogenin is a specific marker for rhabdomyosarcoma: an immunohistochemical study in paraffin-embedded tissues. Mod Pathol 13:988–993CrossRefPubMedGoogle Scholar
  7. 7.
    Mentzel T, Katenkamp D (2000) Sclerosing, pseudovascular rhabdomyosarcoma in adults. Clinicopathological and immunohistochemical analysis of three cases. Virchows Arch 436:305–311CrossRefPubMedGoogle Scholar
  8. 8.
    Mitelman F, Johansson B, Mertens F (eds) (2004) Mitelman database of chromosome aberrations in cancer. John Wiley & Sons, Inc., New YorkGoogle Scholar
  9. 9.
    Polito P, Dal Cin P, Sciot R, Brock P, Van Eyken P, Van den Berghe H (1999) Embryonal rhabdomyosarcoma with only numerical chromosome changes. Case report and review of the literature. Cancer Genet Cytogenet 109:161–165CrossRefPubMedGoogle Scholar
  10. 10.
    Shapiro DN, Sublett JE, Li B, Downing JR, Naeve CW (1993) Fusion of PAX3 to a member of the forkhead family of transcription factors in human alveolar rhabdomyosarcoma. Cancer Res 53:5108–5112PubMedGoogle Scholar

Copyright information

© Springer-Verlag 2004

Authors and Affiliations

  • Romaric Croes
    • 1
  • Maria Debiec-Rychter
    • 2
  • Kristof Cokelaere
    • 3
  • Rita De Vos
    • 1
  • Anne Hagemeijer
    • 2
  • Raf Sciot
    • 1
    • 4
  1. 1.Department of Morphology and Molecular PathologyUniversity Hospitals, K.U. LeuvenLeuvenBelgium
  2. 2.Department of Human GeneticsCatholic University of LeuvenLeuvenBelgium
  3. 3.Department of PathologyJan YpermanziekenhuisIeperBelgium
  4. 4.Department of PathologyUniversity Hospital St. RafaëlLeuvenBelgium

Personalised recommendations