posted on 2018-12-12, 03:13authored byRui Caetano Oliveira, Mónica Jerónimo, Alexandra Paúl, Carol Marinho, Fátima Heitor
ABSTRACT Paediatric cystic nephroma is a neoplasm of uncertain pathogenesis characterized by a multilocular architecture that develops in children. Some cases may be sporadic, and others may present a familial association, together with other neoplasms, as part of a DICER1 syndrome. We present a case of a paediatric cystic nephroma with an unreported DICER1 mutation and explore the differential diagnosis mainly with cystic partially differentiated nephroblastoma.