Central nervous system-predominant Erdheim–Chester disease mimicking meningioma responding to BRAF inhibitor therapy: the importance of molecular diagnosis and targeted therapy in rare neoplastic disorders

  • Amrita Chakrabarti
  • Anirban Deep BanerjeeEmail author
  • Ishani Mohapatra
  • Ritesh Sachdev
  • Bosky Jain
  • Nitin Sood
case report


Erdheim–Chester disease (ECD) is a rare multi-system, non-Langerhans cell histiocytic disorder (NLCHD) with only a few hundred cases reported in the literature. Its diverse clinical manifestations require a high level of diagnostic suspicion. BRAFV600E mutation analysis is of critical significance, as it has implications for targeted therapy with BRAF inhibitors such as vemurafenib and dabrafenib. We report a case of symptomatic, central nervous system (CNS)-predominant ECD initially presenting with CNS mass lesions mimicking meningiomas on imaging and prominent periorbital xanthogranulomas. CNS presentation of ECD, although not infrequent, bears particular significance here from a therapeutic point of view, since only partial debulking was possible owing to anatomical complexities. Radiological evaluation following surgery showed no significant change in the size of the lesions. Targeted therapy was commenced following histopathology, immunohistochemistry (IHC), and molecular testing, resulting in marked improvement of clinical symptoms and tumor regression. Thus, diagnostic accuracy was imperative for symptomatic relief in this rare but aggressive neoplasm with a complex clinical presentation and misleading initial radiological impressions, bearing an otherwise grim prognosis.


Erdheim–Chester disease BRAFV600E mutation Vemurafenib Non-Langerhans cell histiocytic disorder CNS space-occupying lesions 


Conflict of interest

A. Chakrabarti, A.D. Banerjee, I. Mohapatra, R. Sachdev, B. Jain, and N. Sood declare that they have no competing interests.

Ethical standards

Informed consent was obtained from the patient for which identifying information is included in this article.


  1. 1.
    Diamond EL, et al. Consensus guidelines for the diagnosis and clinical management of Erdheim-Chester disease. Blood. 2014;124(4):483–92.CrossRefGoogle Scholar
  2. 2.
    Haroche J, Arnaud L, Amoura Z. Erdheim-Chester disease. Curr Opin Rheumatol. 2012;24:53–9.CrossRefGoogle Scholar
  3. 3.
    Mazor RD, Manevich-Mazor M, Shoenfeld Y. Erdheim-Chester Disease: a comprehensive review of the literature. Orphanet J Rare Dis. 2013;8:13.CrossRefGoogle Scholar
  4. 4.
    Arnaud L, Hervier B, Neel A, et al. CNS involvement and treatment with interferon-alpha are independent prognostic factors in Erdheim-Chester disease: a multicenter survival analysis of 53 patients. Blood. 2011;117:2778–82.CrossRefGoogle Scholar
  5. 5.
    Volpicelli ER, Doyle L, Annes JP, et al. Erdheim-Chester disease presenting with cutaneous involvement: a case report and literature review. J Cutan Pathol. 2011;38:280–5.CrossRefGoogle Scholar
  6. 6.
    Drier A, Haroche J, Savatovsky J, et al. Cerebral, facial, and orbital involvement in Erdheim-Chester disease: CT and MR imaging findings. Radiology. 2010;255:586–94.CrossRefGoogle Scholar
  7. 7.
    Stoppacciaro A, Ferrarini M, Salmaggi C, et al. Immunohistochemical evidence of a cytokine and chemokine network in three patients with Erdheim-Chester disease: implications for pathogenesis. Arthritis Rheum. 2006;54(12):4018–22.CrossRefGoogle Scholar
  8. 8.
    Arnaud L, Gorochov G, Charlotte F, et al. Systemic perturbation of cytokine and chemokine networks in Erdheim-Chester disease: a single-center series of 37 patients. Blood. 2011;117(10):2783–90.CrossRefGoogle Scholar
  9. 9.
    Rushing EJ, Kaplan KJ, Mena H, Sandberg GD, Koeller K, Bouffard JP. Erdheim-Chester disease of the brain: cytological features and differential diagnosis of a challenging case. Diagn Cytopathol. 2004;31:420–2.CrossRefGoogle Scholar
  10. 10.
    Salsano E, Savoiardo M, Nappini S, Maderna E, Pollo B, Chinaglia D, Guerra U, Finocchiaro G, Pareyson D. Late-onset sporadic ataxia, pontine lesion, and retroperitoneal fibrosis: a case of Erdheim-Chester disease. Neurol Sci. 2008;29:263–7.CrossRefGoogle Scholar
  11. 11.
    Veyssier-Belot C, Cacoub P, Caparros-Lefebvre D, Wechsler J, Brun B, Remy M, Wallaert B, Petit H, Grimaldi A, Wechsler B, Godeau P. Erdheim-Chester disease. Clinical and radiologic characteristics of 59 cases. Medicine. 1996;75:157–69.CrossRefGoogle Scholar
  12. 12.
    Haroche J, Arnaud L, Cohen-Aubart F, et al. Erdheim-Chester disease. Rheum Dis Clin North Am. 2013;39(2):299–311.CrossRefGoogle Scholar
  13. 13.
    Braiteh F, Boxrud C, Esmaeli B, Kurzrock R. Successful treatment of Erdheim-Chester disease, a non-Langerhans-cell histiocytosis, with interferon-alpha. Blood. 2005;106:2992–4.CrossRefGoogle Scholar
  14. 14.
    Oweity T, Scheithauer BW, Ching HS, Lei C, Wong KP. Multiple system Erdheim-Chester disease with massive hypothalamic-sellar involvement and hypopituitarism. J Neurosurg. 2002;96:344–51.CrossRefGoogle Scholar

Copyright information

© Springer-Verlag GmbH Austria, part of Springer Nature 2018

Authors and Affiliations

  • Amrita Chakrabarti
    • 1
  • Anirban Deep Banerjee
    • 2
    Email author
  • Ishani Mohapatra
    • 3
  • Ritesh Sachdev
    • 3
  • Bosky Jain
    • 4
  • Nitin Sood
    • 1
  1. 1.Department of Clinical Hematology & Bone Marrow TransplantMedanta—The MedicityGurugramIndia
  2. 2.Institute of NeurosciencesMedanta—The MedicityGurugramIndia
  3. 3.Department of PathologyMedanta—The MedicityGurugramIndia
  4. 4.Department of RadiodiagnosisMedanta—The MedicityGurugramIndia

Personalised recommendations