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烧伤瘢痕来源的软组织肉瘤中频繁出现p53基因突变。

Frequent p53 gene mutations in soft tissue sarcomas arising in burn scar.

作者信息

Nakanishi H, Tomita Y, Yoshikawa H, Sato N, Ochi T, Aozasa K

机构信息

Department of Pathology, Osaka University School of Medicine, Suita.

出版信息

Jpn J Cancer Res. 1999 Mar;90(3):276-9. doi: 10.1111/j.1349-7006.1999.tb00744.x.

Abstract

Squamous cell carcinoma (SCC) is the commonest malignancy that arises in burn scars, which frequently contain p53 mutations. Soft tissue sarcoma (STS) also develops, though less frequently, in burn scars. p53 gene mutations were analyzed in paraffin-embedded specimens from 5 patients with STS (4 males and 1 female) that had arisen in a burn scar, by means of polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) followed by direct sequencing. Age at burn injury ranged from 2 to 10 (median 3) years, and STS developed with a latent period ranging from 29 to 79 (median 60) years. Histologically, all were malignant fibrous histiocytoma. The PCR-SSCP revealed aberrant bands in 4 (80%) of 5 cases. Direct sequencing revealed a total of 11 mutations in these 4 cases: 1 case had a single mutation, 1 had 2 mutations, and 2 had 4 mutations. Every tumor had at least 1 mutation that changed an amino acid, which may have provided the selection pressure for expansion. Thus, there is a high frequency of p53 gene mutations in STS appearing in burn scars. p53 mutations were also frequent in pyothorax-associated lymphoma (PAL), a lymphoma that develops in patients with long-standing pyothorax, so p53 mutations might be frequent in malignancies that develop in chronic inflammatory sites.

摘要

鳞状细胞癌(SCC)是烧伤瘢痕中最常见的恶性肿瘤,烧伤瘢痕中常含有p53基因突变。软组织肉瘤(STS)也可在烧伤瘢痕中发生,不过发生频率较低。通过聚合酶链反应-单链构象多态性分析(PCR-SSCP)并直接测序,对5例发生于烧伤瘢痕的STS患者(4例男性,1例女性)的石蜡包埋标本进行了p53基因突变分析。烧伤时年龄为2至10岁(中位年龄3岁),STS发生的潜伏期为29至79岁(中位潜伏期60岁)。组织学上,所有病例均为恶性纤维组织细胞瘤。PCR-SSCP显示5例中有4例(80%)出现异常条带。直接测序显示这4例中共有11个突变:1例有1个突变,1例有2个突变,2例有4个突变。每个肿瘤至少有1个改变氨基酸的突变,这可能为肿瘤扩展提供了选择压力。因此,发生于烧伤瘢痕的STS中p53基因突变频率较高。在脓胸相关性淋巴瘤(PAL)中p53突变也很常见,PAL是一种发生于长期脓胸患者的淋巴瘤,所以p53突变可能在慢性炎症部位发生的恶性肿瘤中很常见。

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