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

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 cas...

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Main Authors: Rui Caetano Oliveira (Author), Mónica Jerónimo (Author), Alexandra Paúl (Author), Carol Marinho (Author), Fátima Heitor (Author)
Format: Book
Published: Sociedade Brasileira de Patologia Clínica, 2018-10-01T00:00:00Z.
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Summary: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.
Item Description:1678-4774
10.5935/1676-2444.20180056

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