Novel association of familial testicular germ cell tumor and autosomal dominant polycystic kidney disease with PKD1 mutation

Pediatr Blood Cancer. 2017 Jan;64(1):100-102. doi: 10.1002/pbc.26197. Epub 2016 Aug 31.

Abstract

Adolescent brothers were diagnosed with testicular germ cell tumors within the same month. Both were found to have multiple renal cysts on pretreatment imaging done for staging. The proband, his brother, and their mother, were all found to have a novel splice variant in intron 8 of the PKD1 gene by clinical exome sequencing. This is the second family reported with both familial testicular germ cell tumor (FTGCT) and autosomal dominant polycystic kidney disease (ADPKD), and the first described association of FTGCT with a splice variant in PKD1. We suggest that this novel variant in PKD1 may convey increased risk for FTGCT in addition to causing ADPKD.

Keywords: PKD1; exome sequencing; familial testicular germ cell tumor.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Antineoplastic Combined Chemotherapy Protocols / therapeutic use
  • Female
  • Humans
  • Male
  • Mutation / genetics*
  • Neoplasms, Germ Cell and Embryonal / complications
  • Neoplasms, Germ Cell and Embryonal / drug therapy
  • Neoplasms, Germ Cell and Embryonal / genetics*
  • Pedigree
  • Phenotype
  • Polycystic Kidney, Autosomal Dominant / complications
  • Polycystic Kidney, Autosomal Dominant / drug therapy
  • Polycystic Kidney, Autosomal Dominant / genetics*
  • Prognosis
  • TRPP Cation Channels / genetics*
  • Testicular Neoplasms / complications
  • Testicular Neoplasms / drug therapy
  • Testicular Neoplasms / genetics*

Substances

  • TRPP Cation Channels
  • polycystic kidney disease 1 protein

Supplementary concepts

  • Testicular Germ Cell Tumor