Advances in potential targeted therapies for Erdheim-Chester disease

References

• Haroche J, Arnaud L, Amoura Z. Erdheim-Chester disease. Curr Opin Rheumatol. 2012;24:53–59.
   Google Scholar
• Campochiaro C, Tomelleri A, Cavalli G, et al. Erdheim-Chester disease. Eur J Intern Med. 2015;26:223–229.
   Google Scholar
• Cavalli G, Berti A, Campochiaro C, et al. Diagnosing Erdheim-Chester disease. Ann Rheum Dis. 2013;72:e19. Epub 2013/04/18.
   Google Scholar
• Cavalli G, Guglielmi B, Berti A, et al. The multifaceted clinical presentations and manifestations of Erdheim-Chester disease: comprehensive review of the literature and of 10 new cases. Ann Rheum Dis. 2013;72:1691–1695. Epub 2013/02/12.
   Google Scholar
• Courtillot C, Laugier Robiolle S, Cohen Aubart F, et al. Endocrine manifestations in a monocentric cohort of 64 patients with erdheim-chester disease. J Clin Endocrinol Metab. 2016;101:305–313.
   Google Scholar
• Arnaud L, Pierre I, Beigelman-Aubry C, et al. Pulmonary involvement in Erdheim-Chester disease: a single-center study of thirty-four patients and a review of the literature. Arthritis Rheum. 2010;62:3504–3512.
   Google Scholar
• Chasset F, Barete S, Charlotte 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;74:513–520.
   Google Scholar
• Berti A, Ferrarini M, Ferrero E, et al. Cardiovascular manifestations of Erdheim-Chester disease. Clin Exp Rheumatol. 2015;33:S-155-63.
   Google Scholar
• Yelfimov DA, Lightner DJ, Tollefson MK. Urologic manifestations of Erdheim-Chester disease. Urology. 2014;84:218–221.
   Google Scholar
• Ferrero E, Corti A, Haroche J, et al. Plasma Chromogranin A as a marker of cardiovascular involvement in Erdheim-Chester disease. Oncoimmunology. 2016;5:e1181244.
   Google Scholar
• 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;117:2778–2782.
   Google Scholar
• Gadner H, Grois N, Potschger U, et al. Improved outcome in multisystem Langerhans cell histiocytosis is associated with therapy intensification. Blood. 2008;111:2556–2562.
   Google Scholar
• Diamond EL, Dagna L, Hyman DM, et al. Consensus guidelines for the diagnosis and clinical management of Erdheim-Chester disease. Blood. 2014;124:483–492. Epub 2014/05/23.
   Google Scholar
• Braiteh F, Boxrud C, Esmaeli B, et al. Successful treatment of Erdheim-Chester disease, a non-Langerhans-cell histiocytosis, with interferon-alpha. Blood. 2005;106:2992–2994.
   Google Scholar
• Haroche J, Amoura Z, Trad SG, 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;54:3330–3336.
   Google Scholar
• Hervier B, Arnaud L, Charlotte F, et al. Treatment of Erdheim-Chester disease with long-term high-dose interferon-alpha. Semin Arthritis Rheum. 2012;41:907–913.
   Google Scholar
• Ferrantini M, Capone I, Belardelli F. Interferon-alpha and cancer: mechanisms of action and new perspectives of clinical use. Biochimie. 2007;89:884–893.
   Google Scholar
• Tracey L, Villuendas R, Ortiz P, et al. Identification of genes involved in resistance to interferon-alpha in cutaneous T-cell lymphoma. Am J Pathol. 2002;161:1825–1837.
   Google Scholar
• Yang K, Guan SH, Zhang H, et al. Enhanced levels of interleukin-8 are associated with hepatitis B virus infection and resistance to interferon-alpha therapy. Int J Mol Sci. 2014;15:21286–21298.
   Google Scholar
• 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;54:4018–4022. Epub 2006/11/30.
   Google Scholar
• 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;117:2783–2790. Epub 2011/01/06.
   Google Scholar
• Dinarello CA, Simon A, van der Meer JW. Treating inflammation by blocking interleukin-1 in a broad spectrum of diseases. Nat Rev Drug Discov. 2012;11:633–652.
   Google Scholar
• Aouba A, Georgin-Lavialle S, Pagnoux C, et al. Rationale and efficacy of interleukin-1 targeting in Erdheim-Chester disease. Blood. 2010;116:4070–4076.
   Google Scholar
• Dinarello CA. Interleukin-1 in the pathogenesis and treatment of inflammatory diseases. Blood. 2011;117:3720–3732.
   Google Scholar
• Cavalli G, Dinarello CA. Treating rheumatological diseases and co-morbidities with interleukin-1 blocking therapies. Rheumatology (Oxford). 2015;54:2134–2144.
   Google Scholar
• Cavalli G, Fallanca F, Dinarello CA, et al. Treating pulmonary silicosis by blocking interleukin 1. Am J Respir Crit Care Med. 2015;191:596–598.
   Google Scholar
• Cavalli G, Pappalardo F, Mangieri A, et al. Treating life-threatening myocarditis by blocking Interleukin-1. Crit Care Med. 2016;44:e751–e754.
   Google Scholar
• Cavalli G, Franchini S, Aiello P, et al. Efficacy and safety of biological agents in adult-onset Still’s disease. Scand J Rheumatol. 2015;44:309–314.
   Google Scholar
• Aubert O, Aouba A, Deshayes S, et al. Favorable radiological outcome of skeletal Erdheim-Chester disease involvement with anakinra. Joint Bone Spine. 2013;80:206–207. Epub 2012/09/25.
   Google Scholar
• Tran TA, Pariente D, Lecron JC, et al. Treatment of pediatric Erdheim-Chester disease with interleukin-1-targeting drugs. Arthritis Rheum. 2011;63:4031–4032. Epub 2011/09/08.
   Google Scholar
• Killu AM, Liang JJ, Jaffe AS. Erdheim-Chester disease with cardiac involvement successfully treated with anakinra. Int J Cardiol. 2013;167:e115–7. Epub 2013/05/11.
   Google Scholar
• Courcoul A, Vignot E, Chapurlat R. Successful treatment of Erdheim-Chester disease by interleukin-1 receptor antagonist protein. Joint Bone Spine. 2014;81:175–177. Epub 2013/08/21.
   Google Scholar
• Cohen-Aubart F, Maksud P, Saadoun D, et al. Variability in the efficacy of the IL1 receptor antagonist anakinra for treating Erdheim-Chester disease. Blood. 2016;127:1509–1512.
   Google Scholar
• Diamond EL, Abdel-Wahab O, Durham BH, et al. Anakinra as efficacious therapy for two cases of intracranial Erdheim-Chester disease. Blood. 2016;128:1896–1898.
   Google Scholar
• Dagna L, Corti A, Langheim S, 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. 2012;30:e286–90.
   Google Scholar
• Ferrero E, Belloni D, Corti A, et al. TNF-alpha in Erdheim-Chester disease pericardial effusion promotes endothelial leakage in vitro and is neutralized by infliximab. Rheumatology (Oxford). 2014;53:198–200.
   Google Scholar
• Blombery P, Wong SQ, Lade S, et al. Erdheim-Chester disease harboring the BRAF V600E mutation. J Clin Oncol. 2012;30:e331–e332.
   Google Scholar
• Haroche J, Charlotte F, Arnaud L, et al. High prevalence of BRAF V600E mutations in Erdheim-Chester disease but not in other non-Langerhans cell histiocytoses. Blood. 2012;120:2700–2703.
   Google Scholar
• Sebolt-Leopold JS, Herrera R. Targeting the mitogen-activated protein kinase cascade to treat cancer. Nat Rev Cancer. 2004;4:937–947.
   Google Scholar
• Cangi MG, Biavasco R, Cavalli G, et al. BRAFV600E-mutation is invariably present and associated to oncogene-induced senescence in Erdheim-Chester disease. Ann Rheum Dis. 2015;74:1596–1602. Epub 2014/03/29.
   Google Scholar
• Brown NA, Furtado LV, Betz BL, et al. High prevalence of somatic MAP2K1 mutations in BRAF V600E-negative Langerhans cell histiocytosis. Blood. 2014;124:1655–1658.
   Google Scholar
• Badalian-Very G, Vergilio JA, Degar BA, et al. Recurrent BRAF mutations in Langerhans cell histiocytosis. Blood. 2010;116:1919–1923.
   Google Scholar
• Chakraborty R, Hampton OA, Shen X, et al. Mutually exclusive recurrent somatic mutations in MAP2K1 and BRAF support a central role for ERK activation in LCH pathogenesis. Blood. 2014;124:3007–3015.
   Google Scholar
• Durham BH, Diamond EL, Abdel-Wahab O. Histiocytic neoplasms in the era of personalized genomic medicine. Curr Opin Hematol. 2016;23:416–425.
   Google Scholar
• Diamond EL, Abdel-Wahab O, Pentsova E, et al. Detection of an NRAS mutation in Erdheim-Chester disease. Blood. 2013;122:1089–1091.
   Google Scholar
• Emile JF, Diamond EL, Helias-Rodzewicz Z, et al. Recurrent RAS and PIK3CA mutations in Erdheim-Chester disease. Blood. 2014;124:3016–3019.
   Google Scholar
• Iurlo A, Dagna L, Cattaneo D, et al. Erdheim-Chester disease with multiorgan involvement, following polycythemia vera: a case report. Medicine (Baltimore). 2016;95:e3697.
   Google Scholar
• Diamond EL, Durham BH, Haroche J, et al. Diverse and targetable kinase alterations drive histiocytic neoplasms. Cancer Discov. 2016;6:154–165.
   Google Scholar
• Haroche J, Cohen-Aubart F, Charlotte F, et al. The histiocytosis Erdheim-Chester disease is an inflammatory myeloid neoplasm. Expert Rev Clin Immunol. 2015;11:1033–1042.
   Google Scholar
• Kuilman T, Michaloglou C, Vredeveld LC, et al. Oncogene-induced senescence relayed by an interleukin-dependent inflammatory network. Cell. 2008;133:1019–1031.
   Google Scholar
• Cavalli G, Biavasco R, Borgiani B, et al. Oncogene-induced senescence as a new mechanism of disease: the paradigm of erdheim-chester disease. Front Immunol. 2014;5:281. Epub 2014/07/02.
   Google Scholar
• Chapman PB, Hauschild A, Robert C, et al. Improved survival with vemurafenib in melanoma with BRAF V600E mutation. N Engl J Med. 2011;364:2507–2516.
   Google Scholar
• Hauschild A, Grob JJ, Demidov LV, et al. Dabrafenib in BRAF-mutated metastatic melanoma: a multicentre, open-label, phase 3 randomised controlled trial. Lancet. 2012;380:358–365.
   Google Scholar
• Haroche J, Cohen-Aubart F, Emile JF, 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;121:1495–1500.
   Google Scholar
• Haroche J, Cohen-Aubart F, Emile JF, et al. Reproducible and sustained efficacy of targeted therapy with Vemurafenib in patients with BRAF(V600E)-mutated Erdheim-Chester disease. J Clin Oncol. 2015;33:411–418.
   Google Scholar
• Della Torre E, Dagna L, Mapelli P, et al. Erdheim-Chester disease: imaging-guided therapeutic approach. Clin Nucl Med. 2011;36:704–706.
   Google Scholar
• Hyman DM, Puzanov I, Subbiah V, et al. Vemurafenib in multiple nonmelanoma cancers with BRAF V600 mutations. N Engl J Med. 2015;373:726–736.
   Google Scholar
• Wilhelm S, Carter C, Lynch M, et al. Discovery and development of sorafenib: a multikinase inhibitor for treating cancer. Nat Rev Drug Discov. 2006;5:835–844.
   Google Scholar
• Ascierto PA, McArthur GA, Dreno B, et al. Cobimetinib combined with vemurafenib in advanced BRAF(V600)-mutant melanoma (coBRIM): updated efficacy results from a randomised, double-blind, phase 3 trial. Lancet Oncol. 2016;17:1248–1260.
   Google Scholar
• Cohen Aubart F, Emile JF, Maksud P, et al. Efficacy of the MEK inhibitor cobimetinib for wild-type BRAF Erdheim-Chester disease. Br J Haematol. 2016.
   Google Scholar
• Rinehart J, Adjei AA, Lorusso PM, et al. Multicenter phase II study of the oral MEK inhibitor, CI-1040, in patients with advanced non-small-cell lung, breast, colon, and pancreatic cancer. J Clin Oncol. 2004;22:4456–4462.
   Google Scholar
• Kirkwood JM, Bastholt L, Robert C, et al. Phase II, open-label, randomized trial of the MEK1/2 inhibitor selumetinib as monotherapy versus temozolomide in patients with advanced melanoma. Clin Cancer Res. 2012;18:555–567.
   Google Scholar
• Robert C, Karaszewska B, Schachter J, et al. Improved overall survival in melanoma with combined dabrafenib and trametinib. N Engl J Med. 2015;372:30–39.
   Google Scholar
• Welsh SJ, Corrie PG. Management of BRAF and MEK inhibitor toxicities in patients with metastatic melanoma. Ther Adv Med Oncol. 2015;7:122–136.
   Google Scholar
• Eroglu Z, Ribas A. Combination therapy with BRAF and MEK inhibitors for melanoma: latest evidence and place in therapy. Ther Adv Med Oncol. 2016;8:48–56.
   Google Scholar
• Johnson DB, Menzies AM, Zimmer L, et al. Acquired BRAF inhibitor resistance: A multicenter meta-analysis of the spectrum and frequencies, clinical behaviour, and phenotypic associations of resistance mechanisms. Eur J Cancer. 2015;51:2792–2799.
   Google Scholar
• Janku F, Amin HM, Yang D, et al. Response of histiocytoses to imatinib mesylate: fire to ashes. J Clin Oncol. 2010;28:e633–6.
   Google Scholar
• Haroche J, Amoura Z, Charlotte F, et al. Imatinib mesylate for platelet-derived growth factor receptor-beta-positive Erdheim-Chester histiocytosis. Blood. 2008;111:5413–5415.
   Google Scholar
• Ho P, Smith C. High-dose methotrexate for the treatment of relapsed central nervous system erdheim-chester disease. Case Rep Hematol. 2014;2014:269359.
   Google Scholar
• Jeon IS, Lee SS, Lee MK. Chemotherapy and interferon-alpha treatment of Erdheim-Chester disease. Pediatr Blood Cancer. 2010;55:745–747.
   Google Scholar
• Gianfreda D, Nicastro M, Galetti M, et al. Sirolimus plus prednisone for Erdheim-Chester disease: an open-label trial. Blood. 2015;126:1163–1171.
   Google Scholar
• Munoz J, Janku F, Cohen PR, et al. Erdheim-Chester disease: characteristics and management. Mayo Clin Proc. 2014;89:985–996.
   Google Scholar
• Callahan MK, Rampal R, Harding JJ, et al. Progression of RAS-mutant leukemia during RAF inhibitor treatment. N Engl J Med. 2012;367:2316–2321.
   Google Scholar
• Franconieri F, Martin-Silva N, de Boysson H, 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 Oncologica. 2016;55:930–932.
   Google Scholar
• Houston BA, Miller PE, Rooper LM, et al. Clinical problem-solving. From Dancing to Debilitated. N Engl J Med. 2016;374:470–477.
   Google Scholar