Nat Commun:乳头状肾细胞癌的基因组和表观基因组进化史

2020-07-06 AlexYang MedSci原创

肿瘤内异质性和肿瘤的进化在透明细胞肾细胞肿瘤(ccRCC)中已经有了很详细的描述,但是在肾脏癌症其他亚型中很少研究。

肿瘤内异质性和肿瘤的进化在透明细胞肾细胞肿瘤(ccRCC)中已经有了很详细的描述,但是在肾脏癌症其他亚型中很少研究。

最近,有研究人员调查了乳头状肾细胞癌(pRCC)和更加罕见的肾脏癌症亚型的ITH和克隆进化,并整合了全基因组测序和DNA甲基化数据。在29个肿瘤样本中,从病灶中心到外围的样本多达10个,转移样本有2个,从而可以进行对克隆扩张的空间特性进行系统进化分析,同时也表明了基因组和表观遗传组进化的一致性模式。与之前研究的ccRCC不同,在pRCC中,驱使基因的突变和大多数的arm水平的体细胞拷贝数变异(SCNAs)均为克隆的。这些发现表明了单个的生物活检对鉴定重要的遗传驱使因子是足够的,且大规模靶向SCNAa能够改善pRCC治疗的困境。

最后,研究人员指出,虽然1型pRCC几乎没有结构变异(SVs),更加具有侵袭性的2型pRCC和更罕见的亚型均具有大量的SVs,因此,应该进一步研究其预后的意义。

原始出处:

Bin Zhu, Maria Luana Poeta, Manuela Costantini et al. The genomic and epigenomic evolutionary history of papillary renal cell carcinomas. Nat Commun. 18 June 2020

 

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    2021-04-28 liye789132251
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    2020-08-07 liuli5079

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