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

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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Bibliographische Detailangaben
Hauptverfasser: Oliveira, Rui Caetano, Jerónimo, Mónica, Paúl, Alexandra, Marinho, Carol, Heitor, Fátima
Format: Dataset
Sprache:eng
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FOS: Medical biotechnology
Medical Biotechnology not elsewhere classified
Medicine
Pathology
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Zusammenfassung: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.
DOI:10.6084/m9.figshare.7452668