Indolent renal involvement with BRAF(V600E) mutation: Erdheim‐Chester, a rare disease with a wide spectrum of clinical manifestations

We present the case of a patient with three‐year indolent bilateral ureteral and perirenal masses. Clinical presentation, radiological context, and histopathological findings with detection of BRAF(V600E) mutation confirmed the diagnosis of Erdheim‐Chester disease (ECD). A review of current knowledg...

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Autores principales: Vanhomwegen, Charlotte, Mestrez, Fabienne, Faverly, Daniel, Holz, Serge, Taylor, Stephen, Rossi, Camelia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8385182/
https://www.ncbi.nlm.nih.gov/pubmed/34466245
http://dx.doi.org/10.1002/ccr3.4683
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author Vanhomwegen, Charlotte
Mestrez, Fabienne
Faverly, Daniel
Holz, Serge
Taylor, Stephen
Rossi, Camelia
author_facet Vanhomwegen, Charlotte
Mestrez, Fabienne
Faverly, Daniel
Holz, Serge
Taylor, Stephen
Rossi, Camelia
author_sort Vanhomwegen, Charlotte
collection PubMed
description We present the case of a patient with three‐year indolent bilateral ureteral and perirenal masses. Clinical presentation, radiological context, and histopathological findings with detection of BRAF(V600E) mutation confirmed the diagnosis of Erdheim‐Chester disease (ECD). A review of current knowledge regarding diagnosis, clinical assessment, management, and treatment of ECD is also presented.
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spelling pubmed-83851822021-08-30 Indolent renal involvement with BRAF(V600E) mutation: Erdheim‐Chester, a rare disease with a wide spectrum of clinical manifestations Vanhomwegen, Charlotte Mestrez, Fabienne Faverly, Daniel Holz, Serge Taylor, Stephen Rossi, Camelia Clin Case Rep Case Report We present the case of a patient with three‐year indolent bilateral ureteral and perirenal masses. Clinical presentation, radiological context, and histopathological findings with detection of BRAF(V600E) mutation confirmed the diagnosis of Erdheim‐Chester disease (ECD). A review of current knowledge regarding diagnosis, clinical assessment, management, and treatment of ECD is also presented. John Wiley and Sons Inc. 2021-08-24 /pmc/articles/PMC8385182/ /pubmed/34466245 http://dx.doi.org/10.1002/ccr3.4683 Text en © 2021 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Report
Vanhomwegen, Charlotte
Mestrez, Fabienne
Faverly, Daniel
Holz, Serge
Taylor, Stephen
Rossi, Camelia
Indolent renal involvement with BRAF(V600E) mutation: Erdheim‐Chester, a rare disease with a wide spectrum of clinical manifestations
title Indolent renal involvement with BRAF(V600E) mutation: Erdheim‐Chester, a rare disease with a wide spectrum of clinical manifestations
title_full Indolent renal involvement with BRAF(V600E) mutation: Erdheim‐Chester, a rare disease with a wide spectrum of clinical manifestations
title_fullStr Indolent renal involvement with BRAF(V600E) mutation: Erdheim‐Chester, a rare disease with a wide spectrum of clinical manifestations
title_full_unstemmed Indolent renal involvement with BRAF(V600E) mutation: Erdheim‐Chester, a rare disease with a wide spectrum of clinical manifestations
title_short Indolent renal involvement with BRAF(V600E) mutation: Erdheim‐Chester, a rare disease with a wide spectrum of clinical manifestations
title_sort indolent renal involvement with braf(v600e) mutation: erdheim‐chester, a rare disease with a wide spectrum of clinical manifestations
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8385182/
https://www.ncbi.nlm.nih.gov/pubmed/34466245
http://dx.doi.org/10.1002/ccr3.4683
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