Frequent somatic CDH1 loss-of-function mutations in plasmacytoid variant bladder cancer

Hikmat A. Al-Ahmadie, Gopa Iyer, Byron H. Lee, Sasinya N. Scott, Rohit Mehra, Aditya Bagrodia, Emmet J. Jordan, Sizhi Paul Gao, Ricardo Ramirez, Eugene K. Cha, Neil B. Desai, Emily C. Zabor, Irina Ostrovnaya, Anuradha Gopalan, Ying Bei Chen, Samson W. Fine, Satish K. Tickoo, Anupama Gandhi, Joseph Hreiki, Agns VialeMaria E. Arcila, Guido Dalbagni, Jonathan E. Rosenberg, Bernard H. Bochner, Dean F. Bajorin, Michael F. Berger, Victor E. Reuter, Barry S. Taylor, David B. Solit

Research output: Contribution to journalArticlepeer-review

110 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)356-358
Number of pages3
JournalNature genetics
Issue number4
StatePublished - Mar 29 2016

ASJC Scopus subject areas

  • Genetics


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