Abstract
Erdheim-Chester disease (ECD) is a non-Langerhans cell histiocytosis and a rare disorder primarily affecting adults. Clinical manifestations vary widely, as does the severity of clinical phenotypes. The disease is defined by infiltration of involved tissues with CD1a (-) histiocytes, inflammation, and fibrosis, although the histopathologic profile of ECD lesions can vary between patients and affected organs. The identification of recurrent somatic alterations in mitogen-activating protein kinase (MAPK) pathway genes in ECD tissue, including the BRAF V600E mutation in ~50% of cases, has led to a reconceptualization of ECD as a myeloid neoplasm. Furthermore, these discoveries have opened the door to new therapeutic strategies holding promise for unprecedented efficacy in the treatment of ECD. Unanswered questions remain about how best to evaluate and implement these new therapies.
References
Weitzman S, Jaffe R. Uncommon histiocytic disorders: the non-Langerhans cell histiocytoses. Pediatr Blood Cancer. 2005;45(3):256–64.
Emile JF, Abla O, Fraitag S, Horne A, Haroche J, Donadieu J, et al. Revised classification of histiocytoses and neoplasms of the macrophage-dendritic cell lineages. Blood. 2016;127:2672–81.
Chester W. Uber lipoidgranulomatose. Virchows Arch Pathol Anat. 1930;279:561–602.
Haroche J, Cohen-Aubart F, Charlotte F, Maksud P, Grenier PA, Cluzel P, et al. The histiocytosis Erdheim-Chester disease is an inflammatory myeloid neoplasm. Expert Rev Clin Immunol. 2015;11(9):1033–42.
Haroche J, Charlotte F, Arnaud L, von Deimling A, Helias-Rodzewicz Z, Hervier B, et al. High prevalence of BRAF V600E mutations in Erdheim-Chester disease but not in other non-Langerhans cell histiocytoses. Blood. 2012;120(13):2700–3.
Emile JF, Charlotte F, Amoura Z, Haroche J. BRAF mutations in Erdheim-Chester disease. J Clin Oncol (Official Journal of the American Society of Clinical Oncology). 2013;31(3):398.
Blombery P, Wong SQ, Lade S, Prince HM. Erdheim-Chester disease harboring the BRAF V600E mutation. J Clin Oncol (Official Journal of the American Society of Clinical Oncology). 2012;30(32):e331–2.
Diamond EL, Durham BH, Haroche J, Yao Z, Ma J, Parikh SA, et al. Diverse and targetable kinase alterations drive histiocytic neoplasms. Cancer Discov. 2016;6(2):154–65.
Diamond EL, Dagna L, Hyman DM, Cavalli G, Janku F, Estrada-Veras J, et al. Consensus guidelines for the diagnosis and clinical management of Erdheim-Chester disease. Blood. 2014;124(4):483–92.
Sohn MH, Kim MW, Kang YH, Jeong HJ. Tc-99m MDP bone and Ga-67 citrate scintigraphy of Erdheim-Chester disease in a child. Clin Nucl Med. 2006;31(2):90–2.
Joo CU, Go YS, Kim IH, Kim CS, Lee SY. Erdheim-Chester disease in a child with MR imaging showing regression of marrow changes. Skelet Radiol. 2005;34(5):299–302.
Tran TA, Pariente D, Lecron JC, Delwail A, Taoufik Y, Meinzer U. Treatment of pediatric Erdheim-Chester disease with interleukin-1-targeting drugs. Arthritis Rheum. 2011;63(12):4031–2.
Song SY, Lee SW, Ryu KH, Sung SH. Erdheim-Chester disease with multisystem involvement in a 4-year-old. Pediatr Radiol. 2012;42(5):632–5.
Tran TA, Fabre M, Pariente D, Craiu I, Haroche J, Charlotte F, et al. Erdheim-Chester disease in childhood: a challenging diagnosis and treatment. J Pediatr Hematol Oncol. 2009;31(10):782–6.
Clerico A, Ragni G, Cappelli C, Schiavetti A, Gonfiantini M, Uccini S. Erdheim-Chester disease in a child. Med Pediatr Oncol. 2003;41(6):575–7.
Alimohamadi M, Hartmann C, Paterno V, Samii M. Erdheim-Chester disease mimicking an intracranial trigeminal schwannoma: case report. J Neurosurg Pediatr. 2015;15(5):493–8.
Kim S, Lee M, Shin HJ, Lee J, Suh YL. Coexistence of intracranial Langerhans cell histiocytosis and Erdheim-Chester disease in a pediatric patient: a case report. Childs Nerv Syst (ChNS: Official Journal of the International Society for Pediatric Neurosurgery). 2016;32(5):893–6.
Krishna VV, James TE, Chang KT, Yen SS. Erdheim-Chester disease with rare radiological features in a 14-year old girl with pre-B acute lymphocytic leukemia and diabetes mellitus. J Radiol Case Rep. 2014;8(8):7–15.
Haroche J, Arnaud L, Cohen-Aubart F, Hervier B, Charlotte F, Emile JF, et al. Erdheim-Chester disease. Rheum Dis Clin N Am. 2013;39(2):299–311.
Furmanczyk PS, Bruckner JD, Gillespy T 3rd, Rubin BP. An unusual case of Erdheim-Chester disease with features of Langerhans cell histiocytosis. Skelet Radiol. 2007;36(9):885–9.
Tsai JW, Tsou JH, Hung LY, Wu HB, Chang KC. Combined Erdheim-Chester disease and Langerhans cell histiocytosis of skin are both monoclonal: a rare case with human androgen-receptor gene analysis. J Am Acad Dermatol. 2010;63(2):284–91.
Naruse H, Shoda H, Okamoto A, Oka T, Yamamoto K. A case of Osteoarthropathy due to Erdheim-Chester disease with overlapping Langerhans' cell infiltration. Intern Med. 2010;49(12):1225–8.
Caoduro C, Ungureanu CM, Rudenko B, Angoue O, Blagosklonov O, Paycha F, et al. 18F-fluoride PET/CT aspect of an unusual case of Erdheim-Chester disease with histologic features of Langerhans cell histiocytosis. Clin Nucl Med. 2013;38(7):541–2.
Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Vardiman JW. WHO classification of tumours of haematopoietic and lymphoid tissues. 4th ed. Lyon: WHO Press; 2008.
Durham BH, Diamond EL, Abdel-Wahab O. Histiocytic neoplasms in the era of personalized genomic medicine. Curr Opin Hematol. 2016;23(4):416–25.
Diamond EL, Abdel-Wahab O, Pentsova E, Borsu L, Chiu A, Teruya-Feldstein J, et al. Detection of an NRAS mutation in Erdheim-Chester disease. Blood. 2013;122(6):1089–91.
Aitken SJ, Presneau N, Tirabosco R, Amary MF, O’Donnell P, Flanagan AM. An NRAS mutation in a case of Erdheim-Chester disease. Histopathology. 2015;66(2):316–9.
Emile JF, Diamond EL, Helias-Rodzewicz Z, Cohen-Aubart F, Charlotte F, Hyman DM, et al. Recurrent RAS and PIK3CA mutations in Erdheim-Chester disease. Blood. 2014;124(19):3016–9.
Gianfreda D, Nicastro M, Galetti M, Alberici F, Corradi D, Becchi G, et al. Sirolimus plus prednisone for Erdheim-Chester disease: an open-label trial. Blood. 2015;126(10):1163–71.
Hyman DM, Diamond EL, Vibat CR, Hassaine L, Poole JC, Patel M, et al. Prospective blinded study of BRAFV600E mutation detection in cell-free DNA of patients with systemic histiocytic disorders. Cancer Discov. 2015;5(1):64–71.
Diamond EL, Abdel-Wahab O, Durham BH, Dogan A, Ozkaya N, Brody L, et al. Anakinra as efficacious therapy for two cases of intracranial Erdheim-Chester disease. Blood. 2016;128:1896–8.
Nelson DS, Quispel W, Badalian-Very G, van Halteren AG, van den Bos C, Bovee JV, et al. Somatic activating ARAF mutations in Langerhans cell histiocytosis. Blood. 2014;123(20):3152–5.
Takeuchi K, Choi YL, Togashi Y, Soda M, Hatano S, Inamura K, et al. KIF5B-ALK, a novel fusion oncokinase identified by an immunohistochemistry-based diagnostic system for ALK-positive lung cancer. Clin Cancer Res. 2009;15(9):3143–9.
Takeuchi T, Sato M, Sonomura T, Itakura T. Erdheim-Chester disease associated with intramedullary spinal cord lesion. Br J Radiol. 2012;85(1011):e62–4.
Mano H. ALKoma: a cancer subtype with a shared target. Cancer Discov. 2012;2(6):495–502.
Wiesner T, He J, Yelensky R, Esteve-Puig R, Botton T, Yeh I, et al. Kinase fusions are frequent in Spitz tumours and spitzoid melanomas. Nat Commun. 2014;5:3116.
Berres ML, Merad M, Allen CE. Progress in understanding the pathogenesis of Langerhans cell histiocytosis: back to Histiocytosis X? Br J Haematol. 2015;169(1):3–13.
Badalian-Very G. A common progenitor cell in LCH and ECD. Blood. 2014;124(7):991–2.
Allen CE, Parsons DW. Biological and clinical significance of somatic mutations in Langerhans cell histiocytosis and related histiocytic neoplastic disorders. Hematology Am Soc Hematol Educ Program. 2015;2015:559–64.
Collin M, Bigley V, McClain KL, Allen CE. Cell(s) of origin of langerhans cell histiocytosis. Hematol Oncol Clin North Am. 2015;29(5):825–38.
Allen CE, Li L, Peters TL, Leung HC, Yu A, Man TK, et al. Cell-specific gene expression in Langerhans cell histiocytosis lesions reveals a distinct profile compared with epidermal Langerhans cells. J Immunol. 2010;184(8):4557–67.
Berres ML, Lim KP, Peters T, Price J, Takizawa H, Salmon H, et al. BRAF-V600E expression in precursor versus differentiated dendritic cells defines clinically distinct LCH risk groups. J Exp Med. 2014;211:669–83.
Chakraborty R, Hampton OA, Shen X, Simko SJ, Shih A, Abhyankar H, et al. Mutually exclusive recurrent somatic mutations in MAP2K1 and BRAF support a central role for ERK activation in LCH pathogenesis. Blood. 2014;124(19):3007–15.
Hervier B, Haroche J, Arnaud L, Charlotte F, Donadieu J, Neel A, et al. Association of both Langerhans cell histiocytosis and Erdheim-Chester disease linked to the BRAFV600E mutation. Blood. 2014;124(7):1119–26.
Haroche J, Abla O. Uncommon histiocytic disorders: Rosai-Dorfman, juvenile xanthogranuloma, and Erdheim-Chester disease. Hematology Am Soc Hematol Educ Program. 2015;2015:571–8.
Breuil V, Brocq O, Pellegrino C, Grimaud A, Euller-Ziegler L. Erdheim-Chester disease: typical radiological bone features for a rare xanthogranulomatosis. Ann Rheum Dis. 2002;61(3):199–200.
Garcia-Gomez FJ, Acevedo-Banez I, Martinez-Castillo R, Tirado-Hospital JL, Cuenca-Cuenca JI, Pachon-Garrudo VM, et al. The role of 18FDG, 18FDOPA PET/CT and 99mTc bone scintigraphy imaging in Erdheim-Chester disease. Eur J Radiol. 2015;84(8):1586–92.
Garcia-Gomez FJ, Cambil-Molina T, Rios-Martin JJ, de la Riva-Perez PA, Calvo-Moron C, Castro-Montano J. Bone scintigraphy as cornerstone in the diagnosis of Erdheim-Chester disease. Rev Esp Med Nucl Imagen Mol. 2016;35(3):193–6.
Gotthardt M, Welcke U, Brandt D, Tontsch D, Barth PJ, Schaefer J, et al. The role of bone scintigraphy in patients with Erdheim-Chester disease. Clin Nucl Med. 2000;25(6):414–20.
Wilejto M, Abla O. Langerhans cell histiocytosis and Erdheim-Chester disease. Curr Opin Rheumatol. 2012;24(1):90–6.
Allmendinger AM, Krauthamer AV, Spektor V, Aziz MS, Zablow B. Atypical spine involvement of Erdheim-Chester disease in an elderly male. J Neurosurg Spine. 2010;12(3):257–60.
Caglar E, Aktas E, Aribas BK, Sahin B, Terzi A. Erdheim-Chester disease in thoracic spine: a rare case of compression fracture. Spine J (Official Journal of the North American Spine Society). 2016;16(4):e257–8.
Klieger MR, Schultz E, Elkowitz DE, Arlen M, Hajdu SI. Erdheim-Chester disease: a unique presentation with multiple osteolytic lesions of the spine and pelvis that spared the appendicular skeleton. AJR Am J Roentgenol. 2002;178(2):429–32.
Nagatsuka H, Han PP, Taguchi K, Tsujigiwa H, Gunduz M, Fukunaga J, et al. Erdheim-Chester disease in a child presenting with multiple jaw lesions. J oral Pathol Med (Official Publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology). 2005;34(7):420–2.
Petrikowski CG, McGaw WT. Erdheim-Chester disease of the jaws: literature review and case report. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2000;90(3):389–98.
Valdez IH, Katz RW, Travis WD. Premature alveolar bone loss in Erdheim-Chester disease. Oral Surg Oral Med Oral Pathol. 1990;70(3):294–6.
Blomstrand L, Thor A, Hagberg H. Erdheim-Chester disease presenting as periodontal disease: experience of treatment with cladribine, interferon-a, local radiotherapy and anakinra. Acta Oncol. 2016;55(2):248–50.
Fink MG, Levinson DJ, Brown NL, Sreekanth S, Sobel GW. Erdheim-Chester disease. Case report with autopsy findings. Arch Pathol Lab Med. 1991;115(6):619–23.
Loeffler AG, Memoli VA. Myocardial involvement in Erdheim-Chester disease. Arch Pathol Lab Med. 2004;128(6):682–5.
Serratrice J, Granel B, De Roux C, Pellissier JF, Swiader L, Bartoli JM, et al. “Coated aorta”: a new sign of Erdheim-Chester disease. J Rheumatol. 2000;27(6):1550–3.
Rodriguez Sanchez D, Saura Espin D, Bas BA. Erdheim-Chester syndrome with Periaortitis. Revista espanola de cardiologia. 2016;69(1):72.
Windisch C, Petersen I, Schulz B, Winkens T, Lopatta E, Oelzner P, et al. Erdheim-Chester disease with vascular involvement mimics large vessel vasculitis. Postgrad Med J. 2016;92:687–8.
Raptis DA, Raptis CA, Jokerst C, Bhalla S. Erdheim-Chester disease with interatrial septum involvement. J Thorac Imaging. 2012;27(5):W105–7.
de Miguel CJ, Aguilera Del Hoyo LF, Garcia Del Salto L, Cueva Perez E, Casado Cerrada J, Nieto Llanos S, et al. Case 224: cardiac involvement in Erdheim-Chester disease. Radiology. 2015;277(3):916–21.
Arnaud L, Hervier B, Neel A, Hamidou MA, Kahn JE, Wechsler B, et al. CNS involvement and treatment with interferon- are independent prognostic factors in Erdheim-Chester disease: a multicenter survival analysis of 53 patients. Blood. 2011;117(10):2778–82.
Hwang BY, Liu A, Kern J, Goodwin CR, Wolinsky JP, Desai A. Epidural spinal involvement of Erdheim-Chester disease causing myelopathy. J Clin Neurosci (Official Journal of the Neurosurgical Society of Australasia). 2015;22(9):1532–6.
Albayram S, Kizilkilic O, Zulfikar Z, Islak C, Kocer N. Spinal dural involvement in Erdheim-Chester disease: MRI findings. Neuroradiology. 2002;44(12):1004–7.
Querat C, Thai-Van H, Durand DV, Cotton F, Gallego S, Truy E. Hearing rehabilitation with a binaural cochlear implant in a patient with Erdheim-Chester disease. Cochlear Implants Int. 2015;16(5):295–300.
Pego-Reigosa R, Branas-Fernandez F, Martinez-Vazquez F, Rivas-Bande MJ, Sanjuanbenito L, Garcia-Villanueva M, et al. Erdheim-Chester disease with spinal cord manifestations. Eur Neurol. 2000;43(4):242–4.
Lalitha P, Reddy M, Reddy KJ. Extensive intracranial juvenile xanthogranulomas. AJNR Am J Neuroradiol. 2011;32(7):E132–3.
Sagnier S, Debruxelles S, Lepreux S, Sibon I. Erdheim-Chester disease: an unusual cause of intracranial Vasculitis and progressive leukoencephalopathy. J stroke Cerebrovasc Dis (The Official Journal of National Stroke Association). 2016;25(5):e63–5.
Grois N, Fahrner B, Arceci RJ, Henter JI, McClain K, Lassmann H, et al. Central nervous system disease in Langerhans cell histiocytosis. J Pediatr. 2010;156(6):873–81, 81 e1.
Diamond EL. Diffuse reduction of cerebral grey matter volumes in Erdheim-Chester disease. Orphanet J Rare Dis. 2016;11(1):109.
Merritt H, Pfeiffer ML, Richani K, Phillips ME. Erdheim-Chester disease with orbital involvement: case report and ophthalmic literature review. Orbit. 2016;35(4):221–6.
Karcioglu ZA, Sharara N, Boles TL, Nasr AM. Orbital xanthogranuloma: clinical and morphologic features in eight patients. Ophthal Plast Reconstr Surg. 2003;19(5):372–81.
Abdellatief A, Mason CM, Ytterberg SR, Boorjian SA, Salomao DR, Pulido J. Choroidal involvement in Erdheim-Chester disease. Ophthalmic Surg Lasers Imaging Retina. 2015;46(6):674–6.
Courtillot C, Laugier Robiolle S, Cohen Aubart F, Leban M, Renard-Penna R, Drier A, et al. Endocrine manifestations in a monocentric cohort of 64 patients with Erdheim-Chester disease. J Clin Endocrinol Metab. 2016;101(1):305–13.
Sedrak P, Ketonen L, Hou P, Guha-Thakurta N, Williams MD, Kurzrock R, et al. Erdheim-Chester disease of the central nervous system: new manifestations of a rare disease. Am J Neuroradiol. 2011;32(11):2126–31.
Mukherjee A, Dhull VS, Karunanithi S, Sharma P, Durgapal P, Kumar R. Pineal gland involvement in Erdheim-Chester disease detected on (18)F-FDG PET-CT imaging: a case report and review of literature. Clin Imaging. 2014;38(3):367–71.
Yelfimov DA, Lightner DJ, Tollefson MK. Urologic manifestations of Erdheim-Chester disease. Urology. 2014;84(1):218–21.
Chasset F, Barete S, Charlotte F, Cohen-Aubart F, Arnaud L, Le Pelletier F, et al. Cutaneous manifestations of Erdheim-Chester disease (ECD): clinical, pathological, and molecular features in a monocentric series of 40 patients. J Am Acad Dermatol. 2016;74(3):513–20.
Caputo R, Marzano AV, Passoni E, Berti E. Unusual variants of non-Langerhans cell histiocytoses. J Am Acad Dermatol. 2007;57(6):1031–45.
Barnes PJ, Foyle A, Hache KA, Langley RG, Burrell S, Juskevicius R. Erdheim-Chester disease of the breast: a case report and review of the literature. Breast J. 2005;11(6):462–7.
Provenzano E, Barter SJ, Wright PA, Forouhi P, Allibone R, Ellis IO. Erdheim-chester disease presenting as bilateral clinically malignant breast masses. Am J Surg Pathol. 2010;34(4):584–8.
Ferrozzi F, Bova D, Tognini G, Zuccoli G. Pseudotumoral bilateral involvement of the breast in Erdheim-Chester disease: CT appearance. J Comput Assist Tomogr. 2000;24(2):281–3.
Sheu SY, Wenzel RR, Kersting C, Merten R, Otterbach F, Schmid KW. Erdheim-Chester disease: case report with multisystemic manifestations including testes, thyroid, and lymph nodes, and a review of literature. J Clin Pathol. 2004;57(11):1225–8.
Yamamoto T, Mizuno K. Erdheim-Chester disease with intramuscular lipogranuloma. Skelet Radiol. 2000;29(4):227–30.
Taguchi S, Kishida Y, Tamura K, Nose Y, Sato T, Ishikawa A, et al. Intrapelvic bulky tumor as an unusual presentation of Erdheim-Chester disease. Internal Med (Tokyo, Japan). 2015;54(24):3241–5.
Nadjiri J, Woertler K, Specht K, Harrasser N, Toepfer A. Erdheim-Chester disease with bilateral Achilles tendon involvement. Skelet Radiol. 2016:1–6.
Pan A, Doyle T, Schlup M, Lubcke R, Schultz M. Unusual manifestation of Erdheim-Chester disease. BMC Gastroenterol. 2011;11:77.
Ivan D, Neto A, Lemos L, Gupta A. Erdheim-Chester disease: a unique presentation with liver involvement and vertebral osteolytic lesions. Arch Pathol Lab Med. 2003;127(8):e337–9.
Moore FO, Berne JD, Fox AD. Mesenteric panniculitis and Erdheim-Chester disease: xanthogranulomatous diseases confused with malignancy. J Am Coll Surg. 2007;204(2):326–7.
Namwongprom S, Nunez R, Kim EE, Macapinlac HA. Tc-99m MDP bone scintigraphy and positron emission tomography/computed tomography (PET/CT) imaging in Erdheim-Chester disease. Clin Nucl Med. 2007;32(1):35–8.
Lin E. FDG PET/CT for biopsy guidance in Erdheim-Chester disease. Clin Nucl Med. 2007;32(11):860–1.
Stenova E, Steno B, Povinec P, Ondrias F, Rampalova J. FDG-PET in the Erdheim-Chester disease: its diagnostic and follow-up role. Rheumatol Int. 2012;32(3):675–8.
Haroche J, Cohen-Aubart F, Emile JF, Arnaud L, Maksud P, Charlotte F, et al. Dramatic efficacy of vemurafenib in both multisystemic and refractory Erdheim-Chester disease and Langerhans cell histiocytosis harboring the BRAF V600E mutation. Blood. 2013;121(9):1495–500.
Haroche J, Cohen-Aubart F, Emile JF, Maksud P, Drier A, Toledano D, et al. Reproducible and sustained efficacy of targeted therapy with vemurafenib in patients with BRAF(V600E)-mutated Erdheim-Chester disease. J Clin Oncol (Official Journal of the American Society of Clinical Oncology). 2015;33(5):411–8.
Hyman DM, Puzanov I, Subbiah V, Faris JE, Chau I, Blay JY, et al. Vemurafenib in multiple Nonmelanoma Cancers with BRAF V600 Mutations. N Engl J Med. 2015;373(8):726–36.
Cohen-Aubart F, Emile JF, Maksud P, Galanaud D, Idbaih A, Chauvet D, et al. Marked efficacy of vemurafenib in suprasellar Erdheim-Chester disease. Neurology. 2014;83(14):1294–6.
Euskirchen P, Haroche J, Emile JF, Buchert R, Vandersee S, Meisel A. Complete remission of critical neurohistiocytosis by vemurafenib. Neurol Neuroimmunol Neuroinflamm. 2015;2(2):e78.
Franconieri F, Martin-Silva N, de Boysson H, Galateau-Salle F, Emile JF, Bienvenu B, et al. Superior efficacy and tolerance of reduced doses of vemurafenib plus anakinra in Erdheim-Chester disease: towards the paradigm of combined targeting and immune therapies. Acta Oncol. 2016;55(7)930–2.
Tzoulis C, Schwarzlmuller T, Gjerde IO, Softeland E, Neckelmann G, Biermann M, et al. Excellent response of intramedullary Erdheim-Chester disease to vemurafenib: a case report. BMC Res Notes. 2015;8:171.
Borys D, Nystrom L, Song A, Lomasney LM. Erdheim Chester disease with appendicular skeletal, renal and pleural involvement responding to Zelboraf (BRAF inhibitor) treatment: case report. Skelet Radiol. 2016;45(10):1397–402.
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(9):2992–4.
Suzuki HI, Hosoya N, Miyagawa K, Ota S, Nakashima H, Makita N, et al. Erdheim-Chester disease: multisystem involvement and management with interferon-alpha. Leuk Res. 2010;34(1):e21–4.
Haroche J, Amoura Z, Trad SG, Wechsler B, Cluzel P, Grenier PA, et al. Variability in the efficacy of interferon-alpha in Erdheim-Chester disease by patient and site of involvement: results in eight patients. Arthritis Rheum. 2006;54(10):3330–6.
Hervier B, Arnaud L, Charlotte F, Wechsler B, Piette JC, Amoura Z, et al. Treatment of Erdheim-Chester disease with long-term high-dose interferon-alpha. Semin Arthritis Rheum. 2012;41(6):907–13.
Esmaeli B, Ahmadi A, Tang R, Schiffman J, Kurzrock R. Interferon therapy for orbital infiltration secondary to Erdheim-Chester disease. Am J Ophthalmol. 2001;132(6):945–7.
Arnaud L, Hervier B, Neel A, Hamidou MA, Kahn JE, Wechsler B, 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(10):2778–82.
Aouba A, Georgin-Lavialle S, Pagnoux C, Martin Silva N, Renand A, Galateau-Salle F, et al. Rationale and efficacy of interleukin-1 targeting in Erdheim-Chester disease. Blood. 2010;116(20):4070–6.
Aubert O, Aouba A, Deshayes S, Georgin-Lavialle S, Rieu P, Hermine O. Favorable radiological outcome of skeletal Erdheim-Chester disease involvement with anakinra. Joint Bone Spine. 2013;80(2):206–7.
Darstein F, Kirschey S, Heckl S, Rahman F, Schwarting A, Schuchmann M, et al. Successful treatment of Erdheim-Chester disease with combination of interleukin-1-targeting drugs and high-dose glucocorticoids. Intern Med J. 2014;44(1):90–2.
Sevcikova S, Kubiczkova L, Sedlarikova L, Rihova L, Kryukov F, Szturz P, et al. Impact of anakinra treatment on cytokine and lymphocytes/ monocytes profile of an Erdheim-Chester patient. Klin Onkol. 2014;27(4):276–82.
Podesta MA, Graziani G, Reggiani F, Buemi M, Badalamenti S, Ponticelli C. Improvement of Erdheim-Chester disease-related renal failure after treatment with anakinra. Kidney Res Clin Pract. 2014;33(3):165–7.
Courcoul A, Vignot E, Chapurlat R. Successful treatment of Erdheim-Chester disease by interleukin-1 receptor antagonist protein. Joint Bone Spine. 2014;81(2):175–7.
Killu AM, Liang JJ, Jaffe AS. Erdheim-Chester disease with cardiac involvement successfully treated with anakinra. Int J Cardiol. 2013;167(5):e115–7.
Cohen-Aubart F, Maksud P, Saadoun D, Drier A, Charlotte F, Cluzel P, et al. Variability in the efficacy of the IL1 receptor antagonist anakinra for treating Erdheim-Chester disease. Blood. 2016;127(11):1509–12.
Haroche J, Amoura Z, Charlotte F, Salvatierra J, Wechsler B, Graux C, et al. Imatinib mesylate for platelet-derived growth factor receptor-beta-positive Erdheim-Chester histiocytosis. Blood. 2008;111(11):5413–5.
Janku F, Amin HM, Yang D, Garrido-Laguna I, Trent JC, Kurzrock R. Response of histiocytoses to imatinib mesylate: fire to ashes. J Clin Oncol. 2010;28(31):e633–6.
Dagna L, Corti A, Langheim S, Guglielmi B, De Cobelli F, Doglioni C, et al. Tumor necrosis factor alpha as a master regulator of inflammation in Erdheim-Chester disease: rationale for the treatment of patients with infliximab. J Clin Oncol (Official Journal of the American Society of Clinical Oncology). 2012;30(28):e286–90.
Ferrero E, Belloni D, Corti A, Doglioni C, Dagna L, Ferrarini M. TNF-alpha in Erdheim-Chester disease pericardial effusion promotes endothelial leakage in vitro and is neutralized by infliximab. Rheumatology. 2014;53(1):198–200.
Ferrantini M, Capone I, Belardelli F. Interferon-alpha and cancer: mechanisms of action and new perspectives of clinical use. Biochimie. 2007;89(6–7):884–93.
Tran TA, Pariente D, Guitton C, Delwail A, Barat-Houari M, Meinzer U. Treatment of Erdheim-Chester disease with canakinumab. Rheumatology. 2014;53(12):2312–4.
Jendro MC, Zeidler H, Rosenthal H, Haller H, Schwarz A. Improvement of Erdheim-Chester disease in two patients by sequential treatment with vinblastine and mycophenolate mofetil. Clin Rheumatol. 2004;23(1):52–6.
Broccoli A, Stefoni V, Faccioli L, Agostinelli C, Spinardi L, Pastore Trossello M, et al. Bilateral orbital Erdheim-Chester disease treated with 12 weekly administrations of VNCOP-B chemotherapy: a case report and a review of literature. Rheumatol Int. 2012;32(7):2209–13.
Boissel N, Wechsler B, Leblond V. Treatment of refractory Erdheim-Chester disease with double autologous hematopoietic stem-cell transplantation. Ann Intern Med. 2001;135(9):844–5.
Bourke SC, Nicholson AG, Gibson GJ. Erdheim-Chester disease: pulmonary infiltration responding to cyclophosphamide and prednisolone. Thorax. 2003;58(11):1004–5.
Yano S, Kobayashi K, Kato K, Tokuda Y, Ikeda T, Takeyama H. A case of Erdheim-Chester disease effectively treated by cyclophosphamide and prednisolone. Nihon Kokyuki Gakkai Zasshi. 2007;45(1):43–8.
Gaspar N, Boudou P, Haroche J, Wechsler B, Van Den Neste E, Hoang-Xuan K, et al. High-dose chemotherapy followed by autologous hematopoietic stem cell transplantation for adult histiocytic disorders with central nervous system involvement. Haematologica. 2006;91(8):1121–5.
Ho P, Smith C. High-dose methotrexate for the treatment of relapsed central nervous system erdheim-chester disease. Case Rep Hematol. 2014;53(1):198–200.
Jeon IS, Lee SS, Lee MK. Chemotherapy and interferon-alpha treatment of Erdheim-Chester disease. Pediatr Blood Cancer. 2010;55(4):745–7.
Myra C, Sloper L, Tighe PJ, McIntosh RS, Stevens SE, Gregson RH, et al. Treatment of Erdheim-Chester disease with cladribine: a rational approach. Br J Ophthalmol. 2004;88(6):844–7.
Adam Z, Sprlakova A, Rehak Z, Koukalova R, Szturz P, Krejci M, et al. Partial regression of CNS lesions of Erdheim-Chester disease after treatment with 2-chlorodeoxadenosine and their full remission following treatment with lenalidomide. Klin Onkol. 2011;24(5):367–81.
Azadeh N, Tazelaar HD, Gotway MB, Mookadam F, Fonseca R. Erdheim Chester disease treated successfully with cladribine. Respiratory Med Case Rep. 2016;18:37–40.
Mascalchi M, Nencini P, Nistri M, Sarti C, Santoni R. Failure of radiation therapy for brain involvement in Erdheim Chester disease. J Neuro-Oncol. 2002;59(2):169–72.
Miller RC, Villà S, Kamer S, Pasquier D, Poortmans P, Micke O, et al. Palliative treatment of Erdheim–Chester disease with radiotherapy: a rare cancer network study. Radiother Oncol. 2006;80(3):323–6.
Haroche J, Amoura Z. mTOR: a new target in Erdheim-Chester disease? Blood. 2015;126(10):1151–2.
Callahan MK, Rampal R, Harding JJ, Klimek VM, Chung YR, Merghoub T, et al. Progression of RAS-mutant leukemia during RAF inhibitor treatment. N Engl J Med. 2012;367(24):2316–21.
Montella L, Insabato L, Palmieri G. Imatinib mesylate for cerebral Langerhans'-cell histiocytosis. N Engl J Med. 2004;351(10):1034–5.
Utikal J, Ugurel S, Kurzen H, Erben P, Reiter A, Hochhaus A, et al. Imatinib as a treatment option for systemic non-Langerhans cell histiocytoses. Arch Dermatol. 2007;143(6):736–40.
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2018 Springer International Publishing AG
About this chapter
Cite this chapter
Diamond, E.L., Durham, B.H. (2018). Erdheim-Chester Disease. In: Abla, O., Janka, G. (eds) Histiocytic Disorders. Springer, Cham. https://doi.org/10.1007/978-3-319-59632-7_18
Download citation
DOI: https://doi.org/10.1007/978-3-319-59632-7_18
Published:
Publisher Name: Springer, Cham
Print ISBN: 978-3-319-59631-0
Online ISBN: 978-3-319-59632-7
eBook Packages: MedicineMedicine (R0)