CNS Erdheim-Chester Disease: A Challenge to Diagnose

被引:25
作者
Pan, Zenggang [1 ]
Kleinschmidt-DeMasters, Bette K. [1 ,2 ,3 ]
机构
[1] Univ Colorado Denver, Dept Pathol, Aurora, CO USA
[2] Univ Colorado Denver, Dept Neurol, Aurora, CO USA
[3] Univ Colorado Denver, Dept Neurosurg, Aurora, CO USA
关键词
Central nervous system; Erdheim-Chester disease; Langerhans cell histiocytosis; NonLangerhans cell histiocytosis; Rosai-Dorfman disease; LANGERHANS CELL HISTIOCYTOSIS; BRAF; MUTATIONS; VEMURAFENIB; MANIFESTATION; EFFICACY; THERAPY;
D O I
10.1093/jnen/nlx095
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Erdheim-Chester disease (ECD) is a rare nonLangerhans cell histiocytosis. Although approximately 50% of cases eventually involve the central nervous system (CNS), the CNS has seldom been reported as the initial biopsy site. The diagnosis of CNS ECD can be challenging due to morphologic overlap with reactive histiocytic proliferation, Langerhans cell histiocytosis (LCH), and extranodal Rosai-Dorfman disease (RDD). We present 3 cases from our files that illustrate the protean manifestations of ECD. Case 1 was a 47-year-old man with ataxia, dysarthria, and intermittent ophthalmoplegia whose cerebellar biopsy had shown only profuse, nonspecific Rosenthal fiber-rich piloid gliosis; ECD was diagnosed only at autopsy. The gliosis and marked variations in histiocyte morphology in different anatomical sites added to the diagnostic challenge. Case 2 was a 67-year-old female with chronic progressive symptoms and a pontine lesion that had been considered to be CLIPPERS by neuroimaging. Identification of a BRAFV600E mutation allowed an ECD diagnosis and treatment with the specific BRAFV600E inhibitor vemurafenib, which resulted in a marked sustained clinical response. Case 3 was diagnosed as ECD after positive bone biopsy with typical foamy histiocytes. Six years later, there was massive dural involvement that showed RDD-like, BRAF-mutation-negative histiocytosis. These cases highlight the clinical and histologic overlap that can occur among these disorders.
引用
收藏
页码:986 / 996
页数:11
相关论文
共 33 条
  • [1] Rationale and efficacy of interleukin-1 targeting in Erdheim-Chester disease
    Aouba, Achille
    Georgin-Lavialle, Sophie
    Pagnoux, Christian
    Silva, Nicolas Martin
    Renand, Amedee
    Galateau-Salle, Francoise
    Le Toquin, Sophie
    Bensadoun, Henri
    Larousserie, Frederique
    Silvera, Stephane
    Provost, Nicole
    Candon, Sophie
    Seror, Raphaele
    de Menthon, Mathilde
    Hermine, Olivier
    Guillevin, Loic
    Bienvenu, Boris
    [J]. BLOOD, 2010, 116 (20) : 4070 - 4076
  • [2] CNS involvement and treatment with interferon-α are independent prognostic factors in Erdheim-Chester disease: a multicenter survival analysis of 53 patients
    Arnaud, Laurent
    Hervier, Baptiste
    Neel, Antoine
    Hamidou, Mohamed A.
    Kahn, Jean-Emmanuel
    Wechsler, Bertrand
    Perez-Pastor, Gemma
    Blomberg, Bjorn
    Fuzibet, Jean-Gabriel
    Dubourguet, Francois
    Marinho, Antonio
    Magnette, Catherine
    Noel, Violaine
    Pavic, Michel
    Casper, Jochen
    Beucher, Anne-Berangere
    Costedoat-Chalumeau, Nathalie
    Aaron, Laurent
    Salvatierra, Juan
    Graux, Carlos
    Cacoub, Patrice
    Delcey, Veronique
    Dechant, Claudia
    Bindi, Pascal
    Herbaut, Christiane
    Graziani, Giorgio
    Amoura, Zahir
    Haroche, Julien
    [J]. BLOOD, 2011, 117 (10) : 2778 - 2782
  • [3] Efficacy of the MEK inhibitor cobimetinib for wild-type BRAF Erdheim-Chester disease
    Aubart, Fleur Cohen
    Emile, Jean-Francois
    Maksud, Philippe
    Galanaud, Damien
    Cluzel, Philippe
    Benameur, Neila
    Aumaitre, Olivier
    Amoura, Zahir
    Haroche, Julien
    [J]. BRITISH JOURNAL OF HAEMATOLOGY, 2018, 180 (01) : 150 - 153
  • [4] Erdheim-Chester Disease Harboring the BRAF V600E Mutation
    Blombery, Piers
    Wong, Stephen Q.
    Lade, Stephen
    Prince, H. Miles
    [J]. JOURNAL OF CLINICAL ONCOLOGY, 2012, 30 (32) : E331 - E332
  • [5] BRAFV600E-mutation is invariably present and associated to oncogene-induced senescence in Erdheim-Chester disease
    Cangi, Maria Giulia
    Biavasco, Riccardo
    Cavalli, Giulio
    Grassini, Greta
    Dal-Cin, Elena
    Campochiaro, Corrado
    Guglielmi, Barbara
    Berti, Alvise
    Lampasona, Vito
    von Deimling, Andreas
    Sabbadini, Maria Grazia
    Ferrarini, Marina
    Doglioni, Claudio
    Dagna, Lorenzo
    [J]. ANNALS OF THE RHEUMATIC DISEASES, 2015, 74 (08) : 1596 - 1602
  • [6] Endocrine Manifestations in a Monocentric Cohort of 64 Patients With Erdheim-Chester Disease
    Courtillot, C.
    Robiolle, S. Laugier
    Aubart, F. Cohen
    Leban, M.
    Renard-Penna, R.
    Drier, A.
    Charlotte, F.
    Amoura, Z.
    Touraine, P.
    Haroche, J.
    [J]. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2016, 101 (01) : 304 - 312
  • [7] Neurological onset of Erdheim-Chester disease
    Cuello-Oderiz, Carolina
    Pigretti, Santiago
    Patrucco, Liliana
    [J]. REVISTA DE NEUROLOGIA, 2014, 59 (12) : 572 - 574
  • [8] Consensus guidelines for the diagnosis and clinical management of Erdheim-Chester disease
    Diamond, Eli L.
    Dagna, Lorenzo
    Hyman, David M.
    Cavalli, Giulio
    Janku, Filip
    Estrada-Veras, Juvianee
    Ferrarini, Marina
    Abdel-Wahab, Omar
    Heaney, Mark L.
    Scheel, Paul J.
    Feeley, Nancy K.
    Ferrero, Elisabetta
    McClain, Kenneth L.
    Vaglio, Augusto
    Colby, Thomas
    Arnaud, Laurent
    Haroche, Julien
    [J]. BLOOD, 2014, 124 (04) : 483 - 492
  • [9] Detection of an NRAS mutation in Erdheim-Chester disease
    Diamond, Eli L.
    Abdel-Wahab, Omar
    Pentsova, Elena
    Borsu, Laetitia
    Chiu, April
    Teruya-Feldstein, Julie
    Hyman, David M.
    Rosenblum, Marc
    [J]. BLOOD, 2013, 122 (06) : 1089 - 1091
  • [10] Cerebral, Facial, and Orbital Involvement in Erdheim-Chester Disease: CT and MR Imaging Findings
    Drier, Aurelie
    Haroche, Julien
    Savatovsky, Julien
    Godeneche, Gaelle
    Dormont, Didier
    Chiras, Jacques
    Amoura, Zahir
    Bonneville, Fabrice
    [J]. RADIOLOGY, 2010, 255 (02) : 586 - 594