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Cystic nephroma and DICER1 mutations: report of a hitherto unreported mutation

Nefroma quístico e mutações DICER1: relato de uma nova mutação

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.

Key words:
pathology; mutation; anatomy; histology

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