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 autosomaldominant 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.