A case of secondary malignant giant-cell tumor of bone with p53 mutation after long-term follow-up.
A 46-year-old man was admitted to the hospital with a recurrent giant-cell tumor of the distal femur. This was his fourth recurrence, and it had occurred 16 years after his last treatment. The resected recurrent tumor was histologically determined to be a conventional giant-cell tumor. However, a single lung metastatic lesion and local recurrence were noticed 6 months after the resection, both of which were surgically excised. The lung lesion was histologically determined to be an implantation of giant-cell tumor, whereas the local recurrent lesion contained a clearly separated fibrosarcomatous area within the conventional giant-cell tumor. Immunohistochemistry showed diffuse and strong p53 expression in the fibrosarcomatous area. Direct sequencing revealed a p53 mutation in the sarcomatous area and a recessive mutant signal in the conventional area. The lung lesion also contained the same p53 mutation. Identification of the p53 mutation may help in diagnosing potential malignant transformation of giant-cell tumor.
Department of Human Pathology, Juntendo University School of Medicine, Hongo 2-1-1, Bunkyo-ku, Tokyo, Japan 113-8421. tysaitou@juntendo.ac.jp
Tsuyoshi
T
Saito
Hiroyuki
H
Mitomi
Hiroshi
H
Izumi
Yoshiyuki
Y
Suehara
Taketo
T
Okubo
Tomoaki
T
Torigoe
Tatsuya
T
Takagi
Kazuo
K
Kaneko
Ken
K
Sato
Toshiharu
T
Matsumoto
Takashi
T
Yao
D000230:Adenocarcinoma / Q000175:diagnosis / Q000378:metabolism / Q000556:secondary; D001175:Arthrography; D001483:Base Sequence; D002471:Cell Transformation, Neoplastic / Q000473:pathology; D003545:Cysteine; D005269:Femur / Q000000981:diagnostic imaging; D005354:Fibrosarcoma / Q000378:metabolism / Q000473:pathology; D005500:Follow-Up Studies; D005808:Genes, Recessive; D016158:Genes, p53; D018212:Giant Cell Tumor of Bone / Q000175:diagnosis / Q000235:genetics* / Q000556:secondary* / Q000601:surgery; D006801:Humans; D007150:Immunohistochemistry; D008175:Lung Neoplasms / Q000235:genetics / Q000556:secondary / Q000601:surgery; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D009364:Neoplasm Recurrence, Local; D012004:Rectal Neoplasms / Q000175:diagnosis / Q000378:metabolism / Q000473:pathology; D013941:Thymine; D014057:Tomography, X-Ray Computed; D016159:Tumor Suppressor Protein p53 / Q000378:metabolism
D016159:Tumor Suppressor Protein p53; D003545:Cysteine; D013941:Thymine