title: Osteosarcoma occurring in osteogenesis imperfecta.
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.
authors.affiliation: Department of Orthopedic Surgery, Section of Neuro and Locomotor Science, Akita University School of Medicine, Hondo 1-1-1, 010-8543 Akita, Japan. shu@med.akita-u.ac.jp
authors.forename: Shu
authors.initials: S
authors.lastname: Takahashi
authors.forename: Kyoji
authors.initials: K
authors.lastname: Okada
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Nagasawa
authors.forename: Yoichi
authors.initials: Y
authors.lastname: Shimada
authors.forename: Hitoshi
authors.initials: H
authors.lastname: Sakamoto
authors.forename: Eiji
authors.initials: E
authors.lastname: Itoi
mesh_terms: D000328:Adult; D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use; D001859:Bone Neoplasms / Q000150:complications* / Q000473:pathology / Q000628:therapy; D002945:Cisplatin / Q000008:administration & dosage; D003131:Combined Modality Therapy; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000032:analysis; D004317:Doxorubicin / Q000008:administration & dosage; D006801:Humans; D007069:Ifosfamide / Q000627:therapeutic use; D007150:Immunohistochemistry; D008175:Lung Neoplasms / Q000188:drug therapy / Q000556:secondary; D008297:Male; D008727:Methotrexate / Q000008:administration & dosage; D010013:Osteogenesis Imperfecta / Q000150:complications* / Q000473:pathology; D012516:Osteosarcoma / Q000150:complications* / Q000556:secondary / Q000628:therapy; D013902:Radiography, Thoracic; D013848:Thigh / Q000473:pathology / Q000601:surgery; D014057:Tomography, X-Ray Computed; D016896:Treatment Outcome; D016159:Tumor Suppressor Protein p53 / Q000032:analysis / Q000235:genetics
chemical_list: D004273:DNA, Neoplasm; D016159:Tumor Suppressor Protein p53; D004317:Doxorubicin; D002945:Cisplatin; D007069:Ifosfamide; D008727:Methotrexate