Brit J Cancer:透明细胞转移性肾细胞癌中,转移性和原发肿瘤基因组背景研究

2018-04-24 AlexYang MedSci原创

原发透明细胞肾细胞癌(ccRCC)的基因组背景已经有详细的阐释。然而,关于群体基因组变异(GA)背景在ccRCC转移中的情况所知甚少,或者说与原发性肿瘤在总体上的基因组背景差异情况。研究人员认为,转移性肿瘤的基因组背景也许具有生物学、临床和治疗应用。研究主要运用了二代测序技术。群体1(n=578)包括了348个原发性肿瘤案例和229个转移性肿瘤案例。总的来讲,转移性肿瘤中最为常见的变异为VHL (

原发透明细胞肾细胞癌(ccRCC)的基因组背景已经有详细的阐释。然而,关于群体基因组变异(GA)背景在ccRCC转移中的情况所知甚少,或者说与原发性肿瘤在总体上的基因组背景差异情况。研究人员认为,转移性肿瘤的基因组背景也许具有生物学、临床和治疗应用。

研究主要运用了二代测序技术。群体1(n=578)包括了348个原发性肿瘤案例和229个转移性肿瘤案例。总的来讲,转移性肿瘤中最为常见的变异为VHL (66.8%)、PBRM1 (41.87%)、和SETD2 (24.7%)。TP53变异在转移性肿瘤中要比原发性肿瘤频率更高(14.85% vs 8.9%; p=0.031)。其他基因在转移性肿瘤群体和原发性肿瘤群体中的变异没有显著的差异。另外,变异压力在转移性肿瘤和原发性肿瘤之间和转移位点之间没有显著的不同。群体2(n=257)包括了177个原发性肿瘤案例和80个转移性肿瘤案例。同样,在变异频率和变异压力上,两组之间没有显著差异。

最后,研究人员指出,他们的数据支持了ccRCC原发性肿瘤和转移性肿瘤包含了常见基因变异的均匀分布理论。

原始出处:

Guillermo de Velasco, Stephanie A. Wankowicz, Russell Madison et al. Targeted genomic landscape of metastases compared to primary tumours in clear cell metastatic renal cell carcinoma. Brit J Cancer. 20 April 2018.

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    2018-04-26 zz72
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    2018-04-24 131****2916

    不错的文章值得推荐

    0

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    2018-04-24 天地飞扬

    了解一下.谢谢分享!

    0

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