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Frequent p53 Gene Mutations in Soft Tissue Sarcomas Arising in Burn Scar

机译:烧伤疤痕引起的软组织肉瘤中频繁的p53基因突变

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摘要

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.
机译:鳞状细胞癌(SCC)是烧伤疤痕中最常见的恶性肿瘤,通常包含p53突变。软组织肉瘤(STS)也很容易在烧伤疤痕中形成,尽管发生频率较低。通过聚合酶链反应-单链构象多态性(PCR-SSCP),然后直接测序,分析了烧伤疤痕中5例STS患者(男4例,女1例)的石蜡包埋标本中的p53基因突变。烧伤时的年龄为2至10(中位数3)岁,STS的潜伏期为29至79(中位数60)岁。组织学上均为恶性纤维组织细胞瘤。 PCR-SSCP在5例病例中有4例(80%)显示异常条带。直接测序显示这4例中共有11个突变:1例具有单个突变,1例具有2个突变,2例具有4个突变。每个肿瘤都有至少一个改变氨基酸的突变,这可能为扩增提供了选择压力。因此,在烧伤疤痕中出现的STS中p53基因突变的频率很高。 p53突变在脓胸相关淋巴瘤(PAL)中也很常见,PAL是长期存在的脓胸患者所发展的淋巴瘤,因此p53突变在慢性炎症部位发展的恶性肿瘤中可能很常见。

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