Frequent somatic CDH1 loss-of-function mutations in plasmacytoid variant bladder cancer.
Frequent somatic CDH1 loss-of-function mutations in plasmacytoid variant bladder cancer.
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DOI：
10.1038/ng.3503
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发表时间：
2016-04
期刊：
影响因子：
30.8
通讯作者：
Solit DB
中科院分区：
文献类型：
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作者：
Al-Ahmadie HA;Iyer G;Lee BH;Scott SN;Mehra R;Bagrodia A;Jordan EJ;Gao SP;Ramirez R;Cha EK;Desai NB;Zabor EC;Ostrovnaya I;Gopalan A;Chen YB;Fine SW;Tickoo SK;Gandhi A;Hreiki J;Viale A;Arcila ME;Dalbagni G;Rosenberg JE;Bochner BH;Bajorin DF;Berger MF;Reuter VE;Taylor BS;Solit DB
浆细胞样膀胱癌是一种侵袭性的组织学变异，具有很高的疾病特异性死亡率。利用整个外显子组和靶向测序，我们发现在84%的浆细胞样癌中会发生CDH1基因的截短性体细胞变化，并且这种组织学变异是特有的。与通常局部复发的浆细胞样癌的侵袭性临床行为一致，CRISPR/Cas9介导的膀胱癌细胞CDH1基因敲除促进了细胞迁移。
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.