软组织肉瘤的基因组研究

软组织肉瘤是一种发生在组织连接间的恶性肿瘤，这种癌症在总癌症中的发生率不足1%，疾病主要发生在50岁以上的人群中。现在，研究人员对多种软组织肉瘤进行了基因组分析，鉴别出涉及多个肉瘤亚型的基因和信号通道，这将有助于开发亚型特异型治疗靶标的开发，新成果发表在7月在线出版的《自然—基因组学》上。

Soft-tissue sarcomas, which result in approximay 10,700 diagnoses and 3,800 deaths per year in the United States1, show remarkable histologic diversity, with more than 50 recognized subtypes2. However, knowledge of their genomic alterations is limited. We describe an integrative analysis of DNA sequence, copy number and mRNA expression in 207 samples encompassing seven major subtypes. Frequently mutated genes included TP53 （17% of pleomorphic liposarcomas）, NF1 （10.5% of myxofibrosarcomas and 8% of pleomorphic liposarcomas） and PIK3CA （18% of myxoid/round-cell liposarcomas, or MRCs）. PIK3CA mutations in MRCs were associated with Akt activation and poor clinical outcomes. In myxofibrosarcomas and pleomorphic liposarcomas, we found both point mutations and genomic deletions affecting the tumor suppressor NF1.

Samuel  Singer和同事合作，对207个软组织肉瘤样品进行了综合基因组分析。因为软组织肉瘤是组织型异质，样品包括了7种主要亚型的代表。这项研究为确定多种肉瘤亚型的特征提供了一个综合性资源，可进行相关的DNA测序、DNA拷贝数量和mRNA表达变化等方面的研究。他们还发现了在特定亚型中频繁发生变异的几个基因，强调了特定亚型基因组的变异。