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

Charlotte VanhomwegenFabienne MestrezDaniel FaverlySerge HolzStephen TaylorCamelia Rossi
Published in: Clinical case reports (2021)
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.
Keyphrases
  • case report
  • healthcare
  • hodgkin lymphoma
  • magnetic resonance imaging
  • computed tomography
  • loop mediated isothermal amplification
  • label free