title: A case of de novo secondary malignant giant-cell tumor of bone with loss of heterozygosity of p53 gene that transformed within a short-term follow-up.
abstract: A 19-year-old woman was admitted to the hospital with a complaint of right wrist pain. A plain radiograph showed an osteolytic lesion in the right distal radius. Surgical treatment with curettage and bone grafting was performed under the clinical diagnosis of a giant-cell tumor. However, local recurrence was noticed 6 months after the treatment, and the curettage and bone graft were performed again. The histology of the recurrent lesion revealed a malignant giant-cell tumor that was entirely composed of highly atypical stromal cells and tumor giant cells. After a retrospective review of the primary lesion, it was found to also contain a small focus of pleomorphic cells within the conventional giant-cell tumor. Immunohistochemical and genetic analysis revealed p53 overexpression in the tumor giant cells and loss of heterozygosity of p53 gene only in the recurrent tumor; thus, a diagnosis of secondary malignant giant-cell tumor was finally made. The patient underwent systemic chemotherapy along with curettage and cryosurgery using liquid nitrogen. It is now 1 year and 4 months after the last treatment, and the patient is well and alive with no evidence of the disease. Identification of p53 genetic alteration may help in diagnosing malignant giant-cell tumor.
authors.affiliation: Department of Human Pathology, Juntendo University School of Medicine, Hongo, Bunkyo-ku, Tokyo, Japan.
authors.forename: Tsuyoshi
authors.initials: T
authors.lastname: Saito
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Mitomi
authors.forename: Yoshiyuki
authors.initials: Y
authors.lastname: Suehara
authors.forename: Taketo
authors.initials: T
authors.lastname: Okubo
authors.forename: Tomoaki
authors.initials: T
authors.lastname: Torigoe
authors.forename: Tatsuya
authors.initials: T
authors.lastname: Takagi
authors.forename: Kazuo
authors.initials: K
authors.lastname: Kaneko
authors.forename: Takashi
authors.initials: T
authors.lastname: Yao
mesh_terms: D001483:Base Sequence; D001859:Bone Neoplasms / Q000235:genetics* / Q000473:pathology*; D002471:Cell Transformation, Neoplastic / Q000235:genetics / Q000473:pathology; D004252:DNA Mutational Analysis; D005260:Female; D005500:Follow-Up Studies; D018212:Giant Cell Tumor of Bone / Q000235:genetics* / Q000473:pathology*; D006801:Humans; D007150:Immunohistochemistry; D061346:Laser Capture Microdissection; D019656:Loss of Heterozygosity; D008969:Molecular Sequence Data; D009364:Neoplasm Recurrence, Local / Q000235:genetics / Q000473:pathology; D016133:Polymerase Chain Reaction; D016159:Tumor Suppressor Protein p53 / Q000235:genetics*; D055815:Young Adult
chemical_list: C495901:TP53 protein, human; D016159:Tumor Suppressor Protein p53