Renal and systemic involvement in Erdheim-Chester disease and targeted therapy with BRAF and MEK inhibitors
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Guillaume Queffeulou1,2, Thibaut Beuscart1,2, Nicolas Leterrier1
1Service de néphrologie, Centre hospitalier public du Cotentin, Cherbourg-en-Cotentin, France.
Abstract:
Systemic BRAF V600E-mutated Erdheim-Chester disease was diagnosed in a 71-year-old patient presenting with bilateral perirenal infiltration ("hairy kidney"), bilateral renal hilar infiltration with right renal atrophy, retroperitoneal fibrosis, and mesenteric infiltration (mesenteric panniculitis). 99mTc bone scintigraphy and PET/CT revealed typical bone involvement. Brain MRI showed central nervous system (CNS) involvement, while echocardiography, cardiac CT, and MRI identified a right atrial pseudotumor with pericardial effusion. Treatment with a BRAF inhibitor (vemurafenib) and a MEK inhibitor (cobimetinib) was initiated.
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