Indolent renal involvement with BRAFV600E mutation: Erdheim-Chester, a rare disease with a wide spectrum of clinical manifestations

Charlotte Vanhomwegen; Fabienne Mestrez; Daniel Faverly; Serge Holz; Stephen Taylor; Camelia Rossi

doi:10.1002/ccr3.4683

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

Clin Case Rep. 2021 Aug 24;9(8):e04683. doi: 10.1002/ccr3.4683. eCollection 2021 Aug.

Authors

Charlotte Vanhomwegen¹, Fabienne Mestrez², Daniel Faverly³, Serge Holz⁴, Stephen Taylor⁵, Camelia Rossi⁶

Affiliations

¹ Internal Medicine CHU Erasme Hospital Université Libre de Bruxelles Bruxelles Belgium.
² Nephrology Department Ambroise Paré Hospital Université Libre de Bruxelles Bruxelles Belgium.
³ Pathology Department Ambroise Paré Hospital Université Libre de Bruxelles Bruxelles Belgium.
⁴ Urology Department Ambroise Paré Hospital Université Libre de Bruxelles Bruxelles Belgium.
⁵ Radiology Unit Ambroise Paré Hospital Université Libre de Bruxelles Bruxelles Belgium.
⁶ Infectious Disease Department Ambroise Paré Hospital Université Libre de Bruxelles Bruxelles Belgium.

Abstract

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.

Keywords: BRAFV600E; Erdheim‐Chester disease; histiocytosis; retroperitoneum; review.

Publication types

Case Reports