A p53 Gene Mutation in Malignant Fibrous Histiocytoma Associated with Bone Infarction

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著者

    • YAMAMOTO Yasuhiro
    • Department of Orthopaedics Surgery, School of Medicine, Fujita Health University
    • KURODA Makoto
    • Department of Pathology, School of Medicine, Fujita Health University
    • WASHIMI Yuki
    • Department of Orthopaedics Surgery, School of Medicine, Fujita Health University
    • ISHIMURA Daisuke
    • Department of Orthopaedics Surgery, School of Medicine, Fujita Health University
    • YAMADA Harumoto
    • Department of Orthopaedics Surgery, School of Medicine, Fujita Health University

抄録

Transformed sarcomas rarely arise from bone infarct lesions, although the majority of bone sarcomas are primary in origin. However, the pathogenesis of the condition is unknown. In this report, we describe a malignant fibrous histiocytoma with a <i>p53</i> gene mutation. A 59-year-old woman complained of having pain in her left knee for three months. Plain radiographs of the distal metaphysis of her left femur revealed an ill-defined lytic lesion, which was consistent with a malignant tumor in the infarct lesion. An open biopsy specimen did not show any evidence of malignancy. Immunohistochemical examination of the biopsy specimen failed to show p53 protein-positive cells. However, a mutation in the <i>p53</i> gene was detected when polymerase chain reaction/single-strand conformation polymorphism (PCR-SSCP) analysis was performed. A functionally relevant <i>p53</i> missense mutation in codon 273 of exon 8 [CGT (Arg) —> CAT (His)] was confirmed by direct sequencing. We concluded that this lesion was a malignant bone tumor arising from the bone infarct lesion, and we thus performed a wide resection. The histopathological diagnosis of the resected specimen was that it was a malignant fibrous histiocytoma associated with bone infarction. Immunohistochemistry revealed that the tumor cells were positive for the p53 protein. To our knowledge, our patient is the first patient having a bone infarct-associated sarcoma with a <i>p53</i> gene mutation. Identification of the <i>p53</i> mutation helps in diagnosing the malignant transformation of the bone infarct lesion. One pathogenesis of this condition may be a mutation in the <i>p53</i> gene.

収録刊行物

  • Tohoku journal of experimental medicine

    Tohoku journal of experimental medicine 225(3), 215-220, 2011-11-01

    東北ジャーナル刊行会

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各種コード

  • NII論文ID(NAID)
    10030196266
  • NII書誌ID(NCID)
    AA00863920
  • 本文言語コード
    ENG
  • 資料種別
    ART
  • ISSN
    00408727
  • データ提供元
    CJP書誌  J-STAGE 
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