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

CLINICAL CASE REPORTS(2021)

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摘要
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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关键词
BRAF(V600E), Erdheim-Chester disease, histiocytosis, retroperitoneum, review
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