Department of Clinical Genetics, Lund University Hospital, Lund, Sweden.
Virchows Arch. 2010 Feb;456(2):129-39. doi: 10.1007/s00428-009-0736-8. Epub 2009 Feb 3.
Studies on the molecular mechanisms behind soft tissue sarcoma development have disclosed that these malignancies are as genetically heterogeneous as they are clinically and morphologically diverse. Much of the genetic information on soft tissue sarcomas is still limited to the genomic level, as detected by chromosome banding analysis or comparative genomic hybridization. Based on the results of such studies, soft tissue sarcomas may be broadly dichotomized into one group, accounting for approximately 20% of the cases, characterized by specific balanced translocations, and one group typically showing massive chromosomal rearrangements leading to recurrent, but non-specific, structural and numerical rearrangements. As summarized in this review, the genomic characterization of soft tissue sarcomas has not only provided cell biologists with decisive information on the parts of the genome that may harbor genes that are essential for tumor development but also given the clinicians involved in the management of these patients a valuable diagnostic tool.
软组织肉瘤发生的分子机制研究表明，这些恶性肿瘤在遗传上与临床和形态学表现一样具有异质性。软组织肉瘤的大部分遗传信息仍然局限于基因组水平，通过染色体带分析或比较基因组杂交检测到。基于这些研究的结果，软组织肉瘤可以大致分为两组，一组约占 20%的病例，其特征是具有特定的平衡易位，另一组通常表现为大量染色体重排，导致反复出现但非特异性的结构和数量重排。正如本综述所总结的，软组织肉瘤的基因组特征不仅为细胞生物学家提供了关于可能包含肿瘤发生所必需基因的基因组部分的决定性信息，而且为管理这些患者的临床医生提供了有价值的诊断工具。
