軟組織肉瘤是一種發(fā)生在組織連接間的惡性腫瘤，這種癌癥在總癌癥中的發(fā)生率不足1%，疾病主要發(fā)生在50歲以上的人群中。現(xiàn)在，研究人員對多種軟組織肉瘤進(jìn)行了基因組分析，鑒別出涉及多個肉瘤亞型的基因和信號通道，這將有助于開發(fā)亞型特異型治療靶標(biāo)的開發(fā)，新成果發(fā)表在7月在線出版的《自然—基因組學(xué)》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，對207個軟組織肉瘤樣品進(jìn)行了綜合基因組分析。因?yàn)檐浗M織肉瘤是組織型異質(zhì)，樣品包括了7種主要亞型的代表。這項(xiàng)研究為確定多種肉瘤亞型的特征提供了一個綜合性資源，可進(jìn)行相關(guān)的DNA測序、DNA拷貝數(shù)量和mRNA表達(dá)變化等方面的研究。他們還發(fā)現(xiàn)了在特定亞型中頻繁發(fā)生變異的幾個基因，強(qiáng)調(diào)了特定亞型基因組的變異。