Hotspot activating PRKD1 somatic mutations in polymorphous low-grade adenocarcinomas of the salivary glands

Nat Genet. 2014 Nov;46(11):1166-9. doi: 10.1038/ng.3096. Epub 2014 Sep 21.

Abstract

Polymorphous low-grade adenocarcinoma (PLGA) is the second most frequent type of malignant tumor of the minor salivary glands. We identified PRKD1 hotspot mutations encoding p.Glu710Asp in 72.9% of PLGAs but not in other salivary gland tumors. Functional studies demonstrated that this kinase-activating alteration likely constitutes a driver of PLGA.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenocarcinoma / genetics*
  • Adenocarcinoma / pathology
  • Amino Acid Sequence
  • Animals
  • Humans
  • Immunohistochemistry
  • Immunoprecipitation
  • Mice
  • Microscopy, Confocal
  • Models, Molecular*
  • Molecular Sequence Data
  • Mutagenesis
  • Mutation, Missense / genetics
  • NIH 3T3 Cells
  • Protein Kinase C / chemistry
  • Protein Kinase C / genetics*
  • Salivary Gland Neoplasms / genetics*
  • Salivary Gland Neoplasms / pathology
  • Sequence Alignment
  • Sequence Analysis, DNA

Substances

  • protein kinase D
  • Protein Kinase C

Associated data

  • SRA/SRP045782
  • SRA/SRP045785