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

Detalhes bibliográficos
Autor(a) principal: Oliveira,Rui Caetano
Data de Publicação: 2018
Outros Autores: Jerónimo,Mónica, Paúl,Alexandra, Marinho,Carol, Heitor,Fátima
Tipo de documento: Relatório
Idioma: eng
Título da fonte: Jornal Brasileiro de Patologia e Medicina Laboratorial (Online)
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1676-24442018000500336
Resumo: 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.
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spelling Cystic nephroma and DICER1 mutations: report of a hitherto unreported mutationpathologymutationanatomyhistologyABSTRACT 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.Sociedade Brasileira de Patologia Clínica2018-10-01info:eu-repo/semantics/reportinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1676-24442018000500336Jornal Brasileiro de Patologia e Medicina Laboratorial v.54 n.5 2018reponame:Jornal Brasileiro de Patologia e Medicina Laboratorial (Online)instname:Sociedade Brasileira de Patologia (SBP)instacron:SBP10.5935/1676-2444.20180056info:eu-repo/semantics/openAccessOliveira,Rui CaetanoJerónimo,MónicaPaúl,AlexandraMarinho,CarolHeitor,Fátimaeng2018-12-03T00:00:00Zoai:scielo:S1676-24442018000500336Revistahttp://www.scielo.br/jbpmlhttps://old.scielo.br/oai/scielo-oai.php||jbpml@sbpc.org.br1678-47741676-2444opendoar:2018-12-03T00:00Jornal Brasileiro de Patologia e Medicina Laboratorial (Online) - Sociedade Brasileira de Patologia (SBP)false
dc.title.none.fl_str_mv Cystic nephroma and DICER1 mutations: report of a hitherto unreported mutation
title Cystic nephroma and DICER1 mutations: report of a hitherto unreported mutation
spellingShingle Cystic nephroma and DICER1 mutations: report of a hitherto unreported mutation
Oliveira,Rui Caetano
pathology
mutation
anatomy
histology
title_short Cystic nephroma and DICER1 mutations: report of a hitherto unreported mutation
title_full Cystic nephroma and DICER1 mutations: report of a hitherto unreported mutation
title_fullStr Cystic nephroma and DICER1 mutations: report of a hitherto unreported mutation
title_full_unstemmed Cystic nephroma and DICER1 mutations: report of a hitherto unreported mutation
title_sort Cystic nephroma and DICER1 mutations: report of a hitherto unreported mutation
author Oliveira,Rui Caetano
author_facet Oliveira,Rui Caetano
Jerónimo,Mónica
Paúl,Alexandra
Marinho,Carol
Heitor,Fátima
author_role author
author2 Jerónimo,Mónica
Paúl,Alexandra
Marinho,Carol
Heitor,Fátima
author2_role author
author
author
author
dc.contributor.author.fl_str_mv Oliveira,Rui Caetano
Jerónimo,Mónica
Paúl,Alexandra
Marinho,Carol
Heitor,Fátima
dc.subject.por.fl_str_mv pathology
mutation
anatomy
histology
topic pathology
mutation
anatomy
histology
description 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.
publishDate 2018
dc.date.none.fl_str_mv 2018-10-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/report
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
format report
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1676-24442018000500336
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1676-24442018000500336
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.5935/1676-2444.20180056
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv text/html
dc.publisher.none.fl_str_mv
Sociedade Brasileira de Patologia Clínica
publisher.none.fl_str_mv
Sociedade Brasileira de Patologia Clínica
dc.source.none.fl_str_mv Jornal Brasileiro de Patologia e Medicina Laboratorial v.54 n.5 2018
reponame:Jornal Brasileiro de Patologia e Medicina Laboratorial (Online)
instname:Sociedade Brasileira de Patologia (SBP)
instacron:SBP
instname_str Sociedade Brasileira de Patologia (SBP)
instacron_str SBP
institution SBP
reponame_str Jornal Brasileiro de Patologia e Medicina Laboratorial (Online)
collection Jornal Brasileiro de Patologia e Medicina Laboratorial (Online)
repository.name.fl_str_mv Jornal Brasileiro de Patologia e Medicina Laboratorial (Online) - Sociedade Brasileira de Patologia (SBP)
repository.mail.fl_str_mv ||jbpml@sbpc.org.br
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