Summary
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.
References
Diamond EL, et al. Consensus guidelines for the diagnosis and clinical management of Erdheim-Chester disease. Blood. 2014;124(4):483–92.
Haroche J, Arnaud L, Amoura Z. Erdheim-Chester disease. Curr Opin Rheumatol. 2012;24:53–9.
Mazor RD, Manevich-Mazor M, Shoenfeld Y. Erdheim-Chester Disease: a comprehensive review of the literature. Orphanet J Rare Dis. 2013;8:13.
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.
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.
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.
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.
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.
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.
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.
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.
Haroche J, Arnaud L, Cohen-Aubart F, et al. Erdheim-Chester disease. Rheum Dis Clin North Am. 2013;39(2):299–311.
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.
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.
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A. Chakrabarti, A.D. Banerjee, I. Mohapatra, R. Sachdev, B. Jain, and N. Sood declare that they have no competing interests.
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Chakrabarti, A., Banerjee, A.D., Mohapatra, I. et al. 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. memo 12, 93–98 (2019). https://doi.org/10.1007/s12254-018-0439-4
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DOI: https://doi.org/10.1007/s12254-018-0439-4