Massive Perirenal Involvement in Erdheim-Chester Disease

HomeRadiologyVol. 301, No. 2 PreviousNext Reviews and CommentaryFree AccessImages in RadiologyMassive Perirenal Involvement in Erdheim-Chester DiseaseJorge Polo-Sabau , Begoña López-Botet-ZuluetaJorge Polo-Sabau , Begoña López-Botet-ZuluetaAuthor AffiliationsFrom the Departments of Internal Medicine (J.P.S.) and Radiology (B.L.B.Z.); Hospital Universitario Fundación Jiménez Díaz, Avenida Reyes Católicos 2, Madrid 28040, Spain.Address correspondence to J.P.S. (e-mail: [email protected]).Jorge Polo-Sabau Begoña López-Botet-ZuluetaPublished Online:Aug 17 2021https://doi.org/10.1148/radiol.2021210646MoreSectionsPDF ToolsImage ViewerAdd to favoritesCiteTrack CitationsPermissionsReprints ShareShare onFacebookTwitterLinked In A 47-year-old man presented with a 5-month history of mild feet swelling. He recalled having a “bulky belly” for 5 years. A nontender large abdominal mass was palpated. MRI showed bilateral perirenal soft-tissue heterogeneous masses with mild contrast material enhancement compressing extrinsically both kidneys (Fig 1). Fluorine 18 fluorodeoxyglucose PET/CT showed diffuse mild uptake, without involvement elsewhere (Fig 2).Figure 1: Coronal single-shot T2-weighted MRI scan in 47-year-old man shows massive bilateral perirenal infiltration by soft-tissue masses. R = right, I = left.Figure 1:Download as PowerPointOpen in Image Viewer Figure 2: Fluorine 18 fluorodeoxyglucose PET/CT scan shows mild uptake by perirenal masses and upward displacement of liver.Figure 2:Download as PowerPointOpen in Image Viewer US-guided core-needle biopsy showed areas of fibroconnective tissue intermingled with abundant histiocytes and scarce lymphoplasmacytic infiltrates. Molecular analysis of histiocytes disclosed V600E mutation of the BRAF gene. These findings were consistent with the diagnosis of Erdheim-Chester disease, a rare form of multisystemic non-Langerhans histiocytosis considered a clonal disorder in recent years (1). It mostly affects long bones and the retroperitoneum, where perirenal fat infiltration confers a typical spiculated appearance (ie, “hairy kidney sign”) (2,3). The clinically silent behavior of the disease in this patient allowed for massive infiltration of perirenal tissues, turning the classic radiologic sign into an atypical mass-like or bulky appearance. The patient has been enrolled in a clinical trial using the mitogen-activated protein kinase kinase, or MEK, inhibitor cobimetinib.Disclosures of Conflicts of Interest: J.P.S. disclosed no relevant relationships. B.L.B.Z. disclosed no relevant relationships.References1. Badalian-Very G, Vergilio JA, Degar BA, et al. Recurrent BRAF mutations in Langerhans cell histiocytosis. Blood 2010;116(11):1919–1923. Crossref, Medline, Google Scholar2. Munoz J, Janku F, Cohen PR, Kurzrock R. Erdheim-Chester disease: characteristics and management. Mayo Clin Proc 2014;89(7):985–996. Crossref, Medline, Google Scholar3. Haroche J, Cohen-Aubart F, Amoura Z. Erdheim-Chester disease. Blood 2020;135(16):1311–1318. Crossref, Medline, Google ScholarArticle HistoryReceived: Mar 12 2021Revision requested: Apr 15 2021Revision received: Apr 28 2021Accepted: May 3 2021Published online: Aug 17 2021Published in print: Nov 2021 FiguresReferencesRelatedDetailsCited By2022 Top Images in Radiology: Radiology In Training Editors' ChoicesSimon Lennartz, Peter Li, Nikita Consul, Susanna I. Lee, 29 November 2022 | Radiology, Vol. 306, No. 2Recommended Articles 2022 Top Images in Radiology: Radiology In Training Editors' ChoicesRadiology2022Volume: 306Issue: 2Histiocytosis and Neoplasms of Macrophage-Dendritic Cell Lineages: Multimodality Imaging with Emphasis on PET/CTRadioGraphics2021Volume: 41Issue: 2pp. 576-594Imaging Manifestations of Hematologic Diseases with Renal and Perinephric InvolvementRadioGraphics2016Volume: 36Issue: 4pp. 1038-1054Imaging Spectrum of Granulomatous Diseases of the Abdomen and PelvisRadioGraphics2021Volume: 41Issue: 3pp. 783-801Case 245: Erdheim-Chester DiseaseRadiology2017Volume: 284Issue: 3pp. 910-917See More RSNA Education Exhibits Erdheim-Chester Disease: A Comprehensive Pictorial Review Using Multimodality ApproachDigital Posters2019Imaging In Histiocytic Disorders In Adults: Hard Work But, Let's Make Some "imaging Teamwork".Digital Posters2021Erdheim-Chester Disease: From Head to ToeDigital Posters2020 RSNA Case Collection Erdheim-Chester DiseaseRSNA Case Collection2021Erdheim-Chester diseaseRSNA Case Collection2020Ewing's sarcomaRSNA Case Collection2020 Vol. 301, No. 2 Metrics Altmetric Score PDF download