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

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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Antigens, CD
  • Cadherins / genetics*
  • Cell Line, Tumor
  • DNA Mutational Analysis
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Humans
  • Multivariate Analysis
  • Mutation
  • Plasmacytoma / genetics*
  • Proportional Hazards Models
  • Urinary Bladder Neoplasms / genetics*
  • Urinary Bladder Neoplasms / mortality

Substances

  • Antigens, CD
  • CDH1 protein, human
  • Cadherins