A p53 gene mutation in malignant fibrous histiocytoma associated with bone infarction.

Yasuhiro Yamamoto, Yasunari Takakuwa, Makoto Kuroda, Hiroatsu Nakashima, Yuki Washimi, Daisuke Ishimura, Harumoto Yamada

研究成果: Article

4 引用 (Scopus)

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 p53 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 p53 gene was detected when polymerase chain reaction/single-strand conformation polymorphism (PCR-SSCP) analysis was performed. A functionally relevant p53 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 p53 gene mutation. Identification of the p53 mutation helps in diagnosing the malignant transformation of the bone infarct lesion. One pathogenesis of this condition may be a mutation in the p53 gene.

元の言語English
ページ(範囲)215-220
ページ数6
ジャーナルThe Tohoku Journal of Experimental Medicine
225
発行部数3
DOI
出版物ステータスPublished - 2011

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Malignant Fibrous Histiocytoma
p53 Genes
Infarction
Bone
Genes
Bone and Bones
Mutation
Sarcoma
Tumors
Biopsy
Neoplasms
Cells
Polymerase chain reaction
Missense Mutation
Polymorphism
Codon
Femur
Conformations
Exons
Knee

All Science Journal Classification (ASJC) codes

  • Biochemistry, Genetics and Molecular Biology(all)

これを引用

Yamamoto, Yasuhiro ; Takakuwa, Yasunari ; Kuroda, Makoto ; Nakashima, Hiroatsu ; Washimi, Yuki ; Ishimura, Daisuke ; Yamada, Harumoto. / A p53 gene mutation in malignant fibrous histiocytoma associated with bone infarction. :: The Tohoku Journal of Experimental Medicine. 2011 ; 巻 225, 番号 3. pp. 215-220.
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title = "A p53 gene mutation in malignant fibrous histiocytoma associated with bone infarction.",
abstract = "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 p53 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 p53 gene was detected when polymerase chain reaction/single-strand conformation polymorphism (PCR-SSCP) analysis was performed. A functionally relevant p53 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 p53 gene mutation. Identification of the p53 mutation helps in diagnosing the malignant transformation of the bone infarct lesion. One pathogenesis of this condition may be a mutation in the p53 gene.",
author = "Yasuhiro Yamamoto and Yasunari Takakuwa and Makoto Kuroda and Hiroatsu Nakashima and Yuki Washimi and Daisuke Ishimura and Harumoto Yamada",
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Yamamoto, Y, Takakuwa, Y, Kuroda, M, Nakashima, H, Washimi, Y, Ishimura, D & Yamada, H 2011, 'A p53 gene mutation in malignant fibrous histiocytoma associated with bone infarction.', The Tohoku Journal of Experimental Medicine, 巻. 225, 番号 3, pp. 215-220. https://doi.org/10.1620/tjem.225.215

A p53 gene mutation in malignant fibrous histiocytoma associated with bone infarction. / Yamamoto, Yasuhiro; Takakuwa, Yasunari; Kuroda, Makoto; Nakashima, Hiroatsu; Washimi, Yuki; Ishimura, Daisuke; Yamada, Harumoto.

:: The Tohoku Journal of Experimental Medicine, 巻 225, 番号 3, 2011, p. 215-220.

研究成果: Article

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T1 - A p53 gene mutation in malignant fibrous histiocytoma associated with bone infarction.

AU - Yamamoto, Yasuhiro

AU - Takakuwa, Yasunari

AU - Kuroda, Makoto

AU - Nakashima, Hiroatsu

AU - Washimi, Yuki

AU - Ishimura, Daisuke

AU - Yamada, Harumoto

PY - 2011

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N2 - 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 p53 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 p53 gene was detected when polymerase chain reaction/single-strand conformation polymorphism (PCR-SSCP) analysis was performed. A functionally relevant p53 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 p53 gene mutation. Identification of the p53 mutation helps in diagnosing the malignant transformation of the bone infarct lesion. One pathogenesis of this condition may be a mutation in the p53 gene.

AB - 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 p53 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 p53 gene was detected when polymerase chain reaction/single-strand conformation polymorphism (PCR-SSCP) analysis was performed. A functionally relevant p53 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 p53 gene mutation. Identification of the p53 mutation helps in diagnosing the malignant transformation of the bone infarct lesion. One pathogenesis of this condition may be a mutation in the p53 gene.

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