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Novel association of familial testicular germ cell tumor and autosomal dominant polycystic kidney disease with PKD1 mutation
Author(s) -
Truscott Laurel,
Gell Joanna,
Chang Vivian Y.,
Lee Hane,
Strom Samuel P.,
Pillai Rex,
Sisk Anthony,
MartinezAgosto Julian A.,
Anderson Martin,
Federman Noah
Publication year - 2017
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.26197
Subject(s) - proband , pkd1 , autosomal dominant polycystic kidney disease , medicine , germ cell , polycystic kidney disease , disease , testicular germ cell tumor , genetic counseling , pathology , genetics , mutation , gene , testicular cancer , biology , cancer
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.