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Osteosarcoma occurring in osteogenesis imperfecta

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Abstract

We describe a case history of a 24-year-old male with osteogenesis imperfecta (OI) who developed osteosarcoma of the left thigh. High-dose ifosfamide therapy caused marked tumor regression of multiple lung metastases. Immunohistochemically, the tumor cells were diffusely positive for the p53 protein. Mutation of the p53 gene was not detected by direct genomic sequencing of exons 4–8. The radiographic characteristics, including irregularly distributed osteolytic lesions and cortical discontinuity, should not be confused with hyperplastic callus formation, a benign process. A biopsy is critical to establish the differential diagnosis between osteosarcoma and common hyperplastic callus formation in OI; however, it must be applied with great care.

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Authors and Affiliations

  1. Department of Orthopedic Surgery, Section of Neuro and Locomotor Science, Akita University School of Medicine, Hondo 1-1-1, 010-8543, Akita , Japan

    Shu Takahashi, Kyoji Okada, Hiroyuki Nagasawa, Yoichi Shimada & Eiji Itoi

  2. Department of Orthopedic Surgery, Taiheiryoikuen Hospital for Disabled Children, Akita, Japan

    Hitoshi Sakamoto

Authors
  1. Shu Takahashi
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  2. Kyoji Okada
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  3. Hiroyuki Nagasawa
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  4. Yoichi Shimada
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  5. Hitoshi Sakamoto
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  6. Eiji Itoi
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Correspondence to Shu Takahashi.

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Takahashi, S., Okada, K., Nagasawa, H. et al. Osteosarcoma occurring in osteogenesis imperfecta. Virchows Arch 444, 454–458 (2004). https://doi.org/10.1007/s00428-004-0985-5

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  • DOI: https://doi.org/10.1007/s00428-004-0985-5

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