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

Laurel Truscott, Joanna Gell, Vivian Y. Chang, Hane Lee, Samuel P. Strom, Rex Pillai, Anthony Sisk, Julian A. Martinez-Agosto, Martin Anderson, Noah Federman

Research output: Contribution to journalArticle

3 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)100-102
Number of pages3
JournalPediatric Blood and Cancer
Volume64
Issue number1
DOIs
StatePublished - Jan 1 2017

Keywords

  • exome sequencing
  • familial testicular germ cell tumor
  • PKD1

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Hematology
  • Oncology

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    Truscott, L., Gell, J., Chang, V. Y., Lee, H., Strom, S. P., Pillai, R., Sisk, A., Martinez-Agosto, J. A., Anderson, M., & Federman, N. (2017). Novel association of familial testicular germ cell tumor and autosomal dominant polycystic kidney disease with PKD1 mutation. Pediatric Blood and Cancer, 64(1), 100-102. https://doi.org/10.1002/pbc.26197