Papillary renal cell carcinoma with a somatic mutation in in a patient with autosomal dominant polycystic kidney disease

Autosomal-dominant polycystic kidney disease (ADPKD) is caused by mutations in PKD1 and PKD2 and is characterized by proliferation of renal tubular epithelium and progressive chronic kidney disease. Derangements in similar cellular signaling pathways occur in ADPKD and renal malignancies, although an association of these disorders has not been established. Herein, we present a case of papillary RCC (pRCC) incidentally discovered in a patient with ADPKD following bilateral native nephrectomy during renal transplantation.

Source: Cancer Genetics and Cytogenetics - November 19, 2015 Category: Genetics & Stem Cells Authors: Wanying Zhang, Adrian Y. Tan, Jon Blumenfeld, Genyan Liu, Alber Michaeel, Tuo Zhang, Brian D. Robinson, Steven P. Salvatore, Sandip Kapur, Stephanie Donahue, Warren O. Bobb, Hanna Rennert Tags: Original Article Source Type: research