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Sclerosing pseudovascular rhabdomyosarcoma—immunohistochemical, ultrastructural, and genetic findings indicating a distinct subtype of rhabdomyosarcoma

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Abstract

Sclerosing (pseudovascular) rhabdomyosarcoma in adults has been described as a rare variant of rhabdomyosarcoma characterized by extensive hyaline fibrosis and pseudovascular growth patterns. We describe another case of this rhabdomyosarcoma subtype including ultrastructural and genetic findings—the lesion presented in a 62-year-old male patient in the left lower leg. The tumor was located within the deep soft tissue with maximum diameter of 11.8 cm and skin ulceration. Ultrastructural analysis revealed irregularly distributed disorganized filaments without clear evidence of Z-bands and a richly collagenized matrix. Using comparative genomic hybridization, a sharply delineated loss of chromosomal region 10q22, loss of chromosome Y, and a gain of chromosome 18 (trisomy) were detected. Reciprocal translocations t(1;13) and t(2;13)(q35;q14) which are characteristic of alveolar rhabdomyosarcoma could be excluded. These findings, while showing a relation to other rhabdomyosarcoma subtypes, represent a relatively circumscribed genetic defect pattern in sclerosing (pseudovascular) rhabdomyosarcoma that is somewhat different from patterns described in most other rhabdomyosarcoma subtypes. Six months after tumor resection, the patient presented with metastatic disease. Further studies should concentrate on the identification of genes especially on chromosomal region 10q22 to elucidate more aspects in the pathogenesis of this rhabdomyosarcoma subtype.

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Abbreviations

CGH:

comparative genomic hybridization

RT-PCR:

reverse transcriptase-polymerase chain reaction

RMS:

rhabdomyosarcoma

SRMS:

sclerosing pseudovascular rhabdomyosarcoma

TEM:

transmission electron microscopy

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Acknowledgements

The authors gratefully acknowledge the excellent technical assistance of Cornelia Troske (Institute for Pathology, University Hospital Bergmannsheil, Bochum, Germany), Alice Kasprzynski (Max-Planck-Institute for Molecular Physiology, Dortmund, Germany), and Matthias Krams, M.D. (Institute of Pathology, University Hospital Schleswig-Holstein, Campus Kiel, Germany).

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Authors and Affiliations

  1. Institute of Pathology, Limb tumor registry, University Hospital Bergmannsheil, Bürkle-de-la-Camp-Platz 1, 44789, Bochum, Germany

    Cornelius Kuhnen, Malgorzata Jaworska & Georg Johnen

  2. Max-Planck-Institute for Molecular Physiology, Otto-Hahn-Straße 11, 44227, Dortmund, Germany

    Peter Herter

  3. Institute of Pathology, University Hospital Schleswig-Holstein, Campus Kiel, Michaelisstraße 11, 24105, Kiel, Germany

    Ivo Leuschner

  4. Dermatopathologische Gemeinschaftspraxis, Siemensstr. 6/1, 88048, Friedrichshafen, Germany

    Thomas Mentzel

  5. Department of Plastic and Hand Surgery-Burn Centre, Limb Tumor Registry, University Hospital Bergmannsheil, Bürkle-de-la-Camp-Platz 1, 44789, Bochum, Germany

    Daniel Druecke

  6. BGFA (Research Institute for Occupational Medicine), University Hospital Bergmannsheil, Bürkle-de-la-Camp-Platz 1, 44789, Bochum, Germany

    Georg Johnen

Authors
  1. Cornelius Kuhnen
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  2. Peter Herter
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  3. Ivo Leuschner
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  4. Thomas Mentzel
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  5. Daniel Druecke
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  6. Malgorzata Jaworska
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  7. Georg Johnen
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Corresponding author

Correspondence to Cornelius Kuhnen.

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Kuhnen, C., Herter, P., Leuschner, I. et al. Sclerosing pseudovascular rhabdomyosarcoma—immunohistochemical, ultrastructural, and genetic findings indicating a distinct subtype of rhabdomyosarcoma. Virchows Arch 449, 572–578 (2006). https://doi.org/10.1007/s00428-006-0282-6

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  • DOI: https://doi.org/10.1007/s00428-006-0282-6

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