Case – Bilateral and recurrent pediatric cystic nephroma associated with DICER1 mutation

摘要

Pathogenic variation in DICER1 predisposes to a variety of benign and malignant neoplasms, including pleuropulmonary blastoma (PPB) and cystic nephroma (CN). Other rare tumors that can be seen include Sertoli-Leydig cell, Wilms, thyroid cancer, and certain childhood brain tumors. More recently, anaplastic sarcoma of the kidney (ASK) has also been described.1,2 DICER1 pathogenic variation is inherited in an autosomal-dominant fashion with low to reduced penetrance (15%). With this case report, we review the current literature on this rare syndrome, with a focus on urological concerns.