A p53 gene mutation in malignant fibrous histiocytoma associated with bone infarction.
A p53 gene mutation in malignant fibrous histiocytoma associated with bone infarction.
复制标题
与骨梗塞相关的恶性纤维组织细胞瘤中的 p53 基因突变。
DOI：
10.1620/tjem.225.215
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发表时间：
2011
期刊：
影响因子：
--
通讯作者：
Harumoto Yamada
中科院分区：
文献类型：
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作者：
Yasuhiro Yamamoto;Y. Takakuwa;M. Kuroda;Hiroatsu Nakashima;Y. Washimi;Daisuke Ishimura;Harumoto Yamada
转化性肉瘤很少由骨梗死灶引起，尽管大多数骨肉瘤是原发的。然而，这种疾病的发病机制尚不清楚。在这个报告中，我们描述了一个p53基因突变的恶性纤维组织细胞瘤。一名59岁妇女自诉左膝疼痛3个月。左股骨远端干骺端x线平片显示一不明确的溶解性病变，与梗死灶中的恶性肿瘤一致。开放活检标本未显示任何恶性肿瘤的证据。活检标本免疫组化检查未见p53蛋白阳性细胞。然而，当进行聚合酶链反应/单链构象多态性（PCR-SSCP）分析时，检测到p53基因突变。通过直接测序证实了p53第8外显子密码子273的功能相关错义突变[CGT (Arg) -> CAT (His)]。我们得出结论，该病变是由骨梗死病变引起的恶性骨肿瘤，因此我们进行了大面积切除。切除标本的组织病理学诊断为恶性纤维组织细胞瘤伴骨梗死。免疫组化显示肿瘤细胞p53蛋白阳性。据我们所知，我们的患者是第一个患有p53基因突变的骨梗死相关肉瘤的患者。鉴定p53突变有助于诊断骨梗死病变的恶性转化。这种情况的一个发病机制可能是p53基因的突变。
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.