Genetics and the biologic basis of sarcomas.
Genetics and the biologic basis of sarcomas.
复制标题
肉瘤的遗传学和生物学基础。
DOI：
10.1097/00001622-199907000-00006
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发表时间：
1999
影响因子：
3.4
通讯作者：
Barr,FG
中科院分区：
文献类型：
--
作者：
Bennicelli,JL;Barr,FG
基因改变的鉴定极大地促进了对肉瘤生物学的理解。此外，这些异常的检测为肉瘤的诊断提供了新的工具。本文综述了过去一年的三个重要的遗传学新发现，包括先天性纤维肉瘤的t（12; 15）易位，恶性横纹肌样肿瘤中推定的肿瘤抑制基因hSNF5/INI1的突变，以及c-kit突变与胃肠道间质瘤的关系。重点介绍了染色体易位的机制、肉瘤特异性融合蛋白的功能、易位以外的遗传异常、分子诊断和基因表达的分子谱等方面的重要研究。特别强调的是通过比较基因组杂交和微阵列技术获得的信息，因为这些强大的技术将有助于快速获取数据，从而深入了解肉瘤的分子遗传学和生物学基础。
Identification of genetic alterations has contributed greatly to the understanding of sarcoma biology. Additionally, detection of these abnormalities is providing new tools for the diagnosis of sarcomas. In this paper, three important new genetic findings from the past year are reviewed, including the t (12; 15) translocation of congenital fibrosarcoma, mutation of the putative tumor suppressor gene hSNF5/INI1 in malignant rhabdoid tumor, and the association of c-kit mutations with gastrointestinal stromal tumor. Highlighted are important studies concerning mechanisms of chromosomal translocation, functions of sarcoma-specific fusion proteins, genetic abnormalities other than translocations, molecular diagnosis, and molecular profiling of gene expression. Particular emphasis is placed on information obtained with comparative genomic hybridization and microarray techniques, because these powerful technologies will facilitate the rapid acquisition of data that provide insight into the molecular genetic and biologic basis of sarcomas.