Frequent somatic CDH1 loss-of-function mutations in plasmacytoid variant bladder cancer
A partir d'échantillons tumoraux prélevés sur plusieurs cohortes de patients atteints de la variante plasmacytoïde d'un cancer de la vessie, cette étude identifie la présence fréquente de mutations somatiques induisant la perte de fonction du gène CDH1
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.