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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Detalles Bibliográficos
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
Descripción
Sumario: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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