Letson G D, Muro-Cacho C A
Interdisciplinary Oncology Program, H. Lee Moffitt Cancer Center and Research Institute at the University of South Florida, Tampa 33612, USA.
Cancer Control. 2001 May-Jun;8(3):239-51. doi: 10.1177/107327480100800304.
Malignant transformation requires the accumulation of multiple genetic alterations such as chromosomal abnormalities, oncogene activation, loss of tumor suppressor genes, or abnormalities in genes that control DNA repair and genomic instability. Sarcomas are a heterogeneous group of malignant mesenchymal tumors of difficult histologic classification and strong genetic predisposition. This article provides a comprehensive review of the cytogenetic abnormalities observed in bone and soft-tissue tumors, emphasizing known downstream molecular changes that may play a role in oncogenesis.
The database of the National Library of Medicine was searched for literature relating to genetic and molecular mechanisms in sarcomas in general and in each of the main tumor entities.
Recent techniques in chromosome analysis and molecular cytogenetics have improved our ability to characterize genetic changes in mesenchymal tumors. Some changes are so characteristic as to be virtually pathognomonic of particular histologic types, while others are complex, difficult to characterize, and of unknown relevance to pathogenesis. The implications to the cell of some of these abnormalities are now being recognized.
The study of sarcomas will benefit from the information derived from genetic studies and translational research. The human genome project and new methodologies, such as computer-based DNA microarray, may help in the histogenetic classification of sarcomas and in the identification of molecular targets for therapy.
恶性转化需要多种基因改变的积累，如染色体异常、癌基因激活、肿瘤抑制基因缺失，或控制DNA修复和基因组不稳定的基因异常。肉瘤是一组异质性的恶性间叶组织肿瘤，组织学分类困难且具有很强的遗传易感性。本文全面综述了在骨和软组织肿瘤中观察到的细胞遗传学异常，着重介绍了可能在肿瘤发生中起作用的已知下游分子变化。
检索美国国立医学图书馆数据库，查找有关肉瘤以及各主要肿瘤实体的遗传和分子机制的文献。
染色体分析和分子细胞遗传学的最新技术提高了我们对间叶组织肿瘤基因变化特征的认识能力。一些变化具有高度特征性，几乎可作为特定组织学类型的诊断依据，而另一些则较为复杂，难以特征化，且与发病机制的相关性不明。现在已经认识到其中一些异常对细胞的影响。
肉瘤的研究将受益于遗传研究和转化研究获得的信息。人类基因组计划和新方法，如基于计算机的DNA微阵列，可能有助于肉瘤的组织发生学分类和治疗分子靶点的识别。
