浆细胞样变异型膀胱癌中频繁出现的体细胞CDH1功能丧失突变。
Frequent somatic CDH1 loss-of-function mutations in plasmacytoid variant bladder cancer.
作者信息
Al-Ahmadie Hikmat A, Iyer Gopa, Lee Byron H, Scott Sasinya N, Mehra Rohit, Bagrodia Aditya, Jordan Emmet J, Gao Sizhi Paul, Ramirez Ricardo, Cha Eugene K, Desai Neil B, Zabor Emily C, Ostrovnaya Irina, Gopalan Anuradha, Chen Ying-Bei, Fine Samson W, Tickoo Satish K, Gandhi Anupama, Hreiki Joseph, Viale Agnès, Arcila Maria E, Dalbagni Guido, Rosenberg Jonathan E, Bochner Bernard H, Bajorin Dean F, Berger Michael F, Reuter Victor E, Taylor Barry S, Solit David B
机构信息
Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, New York, USA.
Weill Cornell Medical College, Cornell University, New York, New York, USA.
出版信息
Nat Genet. 2016 Apr;48(4):356-8. doi: 10.1038/ng.3503. Epub 2016 Feb 22.
Abstract
Plasmacytoid bladder cancer is an aggressive histologic variant with a high risk of disease-specific mortality. Using whole-exome and targeted sequencing, we find that truncating somatic alterations in the CDH1 gene occur in 84% of plasmacytoid carcinomas and are specific to this histologic variant. Consistent with the aggressive clinical behavior of plasmacytoid carcinomas, which frequently recur locally, CRISPR/Cas9-mediated knockout of CDH1 in bladder cancer cells enhanced cell migration.
摘要
浆细胞样膀胱癌是一种侵袭性组织学变异类型，具有较高的疾病特异性死亡风险。通过全外显子组测序和靶向测序，我们发现CDH1基因的截短体细胞改变存在于84%的浆细胞样癌中，且是这种组织学变异所特有的。浆细胞样癌具有侵袭性临床行为，常发生局部复发，与之一致的是，利用CRISPR/Cas9介导的膀胱癌细胞中CDH1基因敲除增强了细胞迁移能力。
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