Novel association of familial testicular germ cell tumor and autosomal dominant polycystic kidney disease with PKD1 mutation
作者： Laurel Truscott , Joanna Gell , Vivian Y Chang , Hane Lee , Samuel P Strom
DOI: 10.1002/PBC.26197
关键词: Cancer research 、 Exome sequencing 、 Mutation 、 PKD1 、 Phenotype 、 Autosomal dominant polycystic kidney disease 、 Proband 、 Familial Testicular Germ Cell Tumor 、 Medicine 、 Multiple renal cysts
摘要: Adolescent brothers were diagnosed with testicular germ cell tumors within the same month. Both found to have multiple renal cysts on pretreatment imaging done for staging. The proband, his brother, and their mother, all a novel splice variant in intron 8 of PKD1 gene by clinical exome sequencing. This is second family reported both familial tumor (FTGCT) autosomal dominant polycystic kidney disease (ADPKD), first described association FTGCT PKD1. We suggest that this may convey increased risk addition causing ADPKD.
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