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软组织肿瘤是发生于纤维组织、脂肪组织、平滑肌、骨骼肌、滑膜等间叶组织的一组病因复杂,组织形态各异,临床表现多样的肿瘤。软组织肉瘤是此类肿瘤中的一小部分,以独特的临床表现和特异性的遗传学改变为特点,虽然占人类所有恶性肿瘤的比例不到1%[1],但它们同样严重威胁着人类的生命并具有重要的诊断和治疗意义。随着组织化学染色、电镜技术和免疫组化技术等辅助手段的广泛应用,人们对软组织肿瘤的发生、发展和分类、诊断等方面有了更深刻的认识,特别是对其分子水平的研究表明除癌基因和抑癌基因的点突变之外,染色体易位和缺失所致的基因重排和丢失也是软组织肿瘤发生的重要分子机制。这使得分子细胞遗传学在软组织肿瘤研究中具有了重要作用和特殊意义。本综述通过分析分子细胞遗传学技术在软组织肿瘤的分类、诊断及预后等方面的应用,客观评价了此技术的作用、优缺点及未来的发展方向。
Soft tissue tumors occur in fibrous tissue, adipose tissue, smooth muscle, skeletal muscle, synovial mesenchymal tissue such as a group of complicated etiology, different tissue morphology, clinical manifestations of various tumors. Soft tissue sarcomas, a small subset of these tumors, are characterized by unique clinical manifestations and specific genetic changes that, although accounting for less than 1% of all human malignancies [1], also pose a serious threat to humans Life and has important diagnostic and therapeutic significance. With the extensive application of the auxiliary methods such as histochemical staining, electron microscopy and immunohistochemistry, people have a deeper understanding of the occurrence, development, classification and diagnosis of soft tissue tumors, especially the research on their molecular level In addition to point mutations in oncogenes and tumor suppressor genes, gene rearrangement and loss due to chromosomal translocations and deletions are also important molecular mechanisms of soft tissue tumorigenesis. This makes molecular cytogenetics in soft tissue tumor research has an important role and special significance. This review objectively evaluates the effects, advantages and disadvantages, and future directions of this technique by analyzing the applications of molecular cytogenetics in the classification, diagnosis and prognosis of soft tissue tumors.