학술논문
Frequent somatic CDH1 loss-of-function mutations in plasmacytoid variant bladder cancer
Document Type
Report
Author
Ahmadie, Hikmat A. Al-; 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, Agnes; 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.
Source
Nature Genetics. April 1, 2016, p356, 5 p.
Subject
Language
English
ISSN
1061-4036
Abstract
Bladder cancer is the ninth most common cancer worldwide and the fourth most common cancer in men (1). Cancers arising in the urothelial tract display a wide spectrum of variant [...]
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.
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.