分子细胞遗传学在软组织肿瘤中的应用

Molecular cytogenesis in soft tissue tumor

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 belong to a group of neoplasms that can occur in mesenchymal tissue including fibrous tissue,adipose tissue,smooth muscle,skeletal muscle,synovial membrane and so on.To make things worse,there is an astonishing variety of morphological types and subtypes.Though the malignancies of soft tissue,referred to as sarcomas,are some of the rarest tumors in medicine,accounting for approximately 1% of all diagnosed malignancies,they also threaten human beings.With the application of histochemical stain,electron microscopy and immunohistochemistry technique,the etiopathogenisis,classification and diagnosis have been comprehend deeply.What is more,the outcome of molecular research informs us that gene rearrangement and loss which are caused by chromosome translocation and loss also lead to soft tissue tumors besides point mutation of oncogene and anti-oncogene.It is obvious that molecular cytogenesis plays an important role in the research of soft tissue tumors.This review has objectively evaluated the action,relative merits and development of molecular cytogenesis through analyzing its role in soft tissue tumors.