Osteosarcoma occurring in osteogenesis imperfecta

Shu Takahashi, Kyoji Okada, Hiroyuki Nagasawa, Yoichi Shimada, Hitoshi Sakamoto, Eiji Itoi

Research output: Contribution to journalArticlepeer-review

22 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)454-458
Number of pages5
JournalVirchows Archiv
Issue number5
Publication statusPublished - 2004 May 1
Externally publishedYes


  • Immunohistochemical staining
  • Mutation
  • Osteogenesis imperfecta
  • Osteosarcoma
  • p53

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Molecular Biology
  • Cell Biology


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