Evaluation of five years of treatment of Erdheim-Chester disease with anakinra: case report and overview of literature
Authors:
Zdeněk Adam 1; Hana Petrášová 2; Zdeněk Řehák 3; Renata Koukalová 3; Marta Krejčí 1; Luděk Pour 1; Eva Vetešníková 1; Aleš Čermák 4; Sabina Ševčíková 5; Petr Szturz 1; Zdeněk Král 1; Jiří Mayer 1
Authors‘ workplace:
Interní hematologická a onkologická klinika LF MU a FN Brno, pracoviště Bohunice
1; Radiologická klinika LF MU a FN Brno, pracoviště Bohunice
2; Oddělení nukleární medicíny, centrum PET, RECAMO, Masarykův onkologický ústav, Brno
3; Urologická klinika LF MU a FN Brno, pracoviště Bohunice
4; Ústav patologické fyziologie LF MU, Brno
5
Published in:
Vnitř Lék 2016; 62(10): 820-832
Category:
Case Reports
Overview
Erdheim-Chester disease is a histiocytic neoplasm of diseases from the group of non-Langerhans-cell histiocytoses, formed by infiltrates of foamy histiocytes. These pathological histiocytes produce pro-inflammatory cytokines. Therefore Erdheim-Chester disease is called inflammatory histiocytary neoplasm. The disease is accompanied by clinical symptoms of systemic inflammatory response, i.e. B symptoms. Imaging examinations detect typical osteosclerotic changes affecting diaphyses and metaphyses of the lower long bones and fibrotic changes which affect the aorta wall and the vessels leading from it. Also characteristic are perirenal fibrotic changes spreading in the retroperitoneum. They can cause serious complications – hydronephrosis with all its consequences. The therapy for this disease was not satisfactory in the previous years. Conventional chemotherapy or glucocorticoids do not bring any substantial and long-term improvement. Considering cytostatic drugs, only 2-chlorodeoxyadenosine (cladribine) is effective, though not in all patients. We have only reached complete remission through 2-chlorodeoxyadenosine in one of our two patients, which now lasts more than 5 years, while cladribine in the same patient did effect the reduction of infiltrates into the CNS, but it did not achieve abatement of the disease activity in other locations as shown by PET/CT with the application of the radio-pharmaceutical fluorodeoxyglucose (FDG). Another effective medicine for patients with Erdheim-Chester disease is interferon α. However its long-term administration is associated with multiple adverse effects and so we did not test it in the described patient. The introduction of anakinra, the interleukin-1 receptor blocker, to therapy brought a new hope for these patients. We are describing the patient who has been treated with anakinra for more than 5 years. The patient applies 1 ampoule of 100 mg subcutaneously per day. This treatment completely removed systemic B symptoms, relieved bone pains and attained normalization of all findings that signalled systemic inflammatory response. The treatment effect is regularly checked by CT imaging of the abdomen and by FDG-PET/CT examinations. The retroperitoneal fibrotic changes gradually regressed during the 5 years of anakinra treatment, as documented by the pictures in the text. Low-dose CT imaging which was part of the PET/CT examination, identified many osteosclerotic lesions in the skeleton, mainly in the legs, with an increased accumulation of 18F-fluorodeoxyglucose (FDG). Osteosclerotic lesions remain well visible at repeated examinations. Still during the course of the 5-year period the FDG accumulation in them decreased, as shown by the pictures in the text. Anakinra treatment has a character of maintenance therapy. The BRAFV600E mutation was not proven in the described patient, therefore we did not test vemurafenib treatment.
Conclusion:
anakinra effected regression of fibrotic changes in the retroperitoneum and disappearance of B symptoms as well as decrease in FDG accumulation at FDG-PET/CT examination.
Key words:
anakinra – Erdheim-Chester disease – cladribine – retroperitoneal fibrosis – vemurafenib
Sources
1. Chester W. Lipoidgranulomatose. Virschow Arch Pathol Anat 1930; 279(2): 561–602.
2. 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(9): 1033–1142. Dostupné z DOI: <http://dx.doi.org/10.1586/1744666X.2015.1060857>.
3. Haroche J, Abla O. Uncommon histiocytic disorders: Rosai-Dorfman, juvenile xanthogranuloma, and Erdheim-Chester disease. Hematology Am Soc Hematol Educ Program 2015; 2015: 571–578. Dostupné z DOI: <http://dx.doi.org/10.1182/asheducation-2015.1.571>.
4. Kolář J, Kučera V, Povýšil C et al. Erdheim Chester disease. Rofo 1984; 141(6): 698–701.
5. Mergancová J, Kubeš L, Elleder M. Xanthogranulomatous processes in the area of the large vessels. Česk Patol 1986; 22(3): 145–50.
6. Mergancová J, Kubeš L Elleder M. A xantogranulomatous process encircling large blood vessels (Erheim-Chester disease). Czech Med 1988; 11(1): 57–64.
7. Kučera, V, Čáp V, Kužel J et al. Vzácná příčina osteosklerózy: Erheimův Chesterův syndrome. ČS Radiol 1984; 38(6): 393–402.
8. Janková H, Říhová E. Juvenilní xantogranulom. In: Oftalmologie v kasuistikách. Triton: Praha 2007: 214–218. ISBN 978–80–7387–025–6.
9. Vašáková M. Co je to Erdheim-Chesterova nemoc? Kazuist Alergol Pneumol ORL 2006; 3(4): 22.
10. Plank L. Diagnostická patológia non-Langerhans cell histiocytóz. Vnitř Lék 2010; 56(Suppl 2): 2S27–2S38.
11. Adam Z, Balšíková K, Pour L at al. Diabetes insipidus, následovaný po 4 letech dysartrií a lehkou pravostrannou hemiparézou – první klinické příznaky Erdheimovy-Chesterovy nemoci. Popis a zobrazení případu s přehledem informací o této nemoci. Vnitř Lék 2009; 55(12): 1173–1188.
12. Szturz P, Adam Z, Koukalová R et al. Erdheimova-Chesterova nemoc v obrazech. Vnitř Lék 2010; 56(Suppl 2): 2S170–2S178.
13. Gong L, He XL, Li YH et al. Clonal status and clinicopathological feature of Erdheim-Chester disease. Pathol Res Pract 2009; 205(9): 601–607. Dostupné z DOI: <http://dx.doi.org/10.1016/j.prp.2009.02.004>.
14. Vencio EF, Jenkins RB, Schiller JL et al. Clonal cytogenetic abnormalities in Erdheim-Chester disease. Am J Surg Pathol 2007; 31(2): 319–321.
15. Badalian-Very G, Vergilio JA, Degar BA et al. Recurrent BRAF mutations in Langerhans cell histiocytosis. Blood 2010; 116(11): 1919–1923. Dostupné z DOI: <http://dx.doi.org/10.1182/blood-2010–04–279083>.
16. Satoh T, Smith A, Sarde A et al. B-RAF mutant alleles associated with Langerhans cell histiocytosis, a granulomatous pediatric disease. PLoS ONE 2012; 7(4): e33891. Dostupné z DOI: <http://dx.doi.org/10.1371/journal.pone.003389>. Erratum in PLoS One 2012; 7(6). Dostupné z DOI: <http://dx.doi.org/10.1371/annotation/74a67f4e-a536–4b3f-a350–9a4c1e6bebbd>.
17. Sahm F, Capper D, Preusser M et al. BRAFV600E mutant protein is expressed in cells of variable maturation in Langerhans cell histiocytosis. Blood 2012; 120: e28-e34. Dostupné z DOI: <http://dx.doi.org/10.1182/blood-2012–06–429597>.
18. 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(8): 1596–602. Dostupné z DOI: <http://dx.doi.org/10.1136/annrheumdis-2013–204924>.
19. Diamond EL, Abdel-Wahab O, Pentsova E et al. Detection of an NRAS mutation in Erdheim-Chester disease. Blood 2013; 122(6): 1089–1091. Dostupné z DOI: <http://dx.doi.org/10.1182/blood-2013–02–482984>.
20. 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): 4018–4022.
21. 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): 2783–2790. Dostupné z DOI: <http://dx.doi.org/10.1182/blood-2010–10–313510>.
22. Naruse H, Shoda H, Okamoto A et al. A case of osteoarthropathy due to Erdheim-Chester disease with overlapping Langerhans’ cell infiltration. Intern Med 2010; 49(12): 1225–1228.
23. Caoduro C, Ungureanu CM, Rudenko B 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): 541–542. Dostupné z DOI: <http://dx.doi.org/10.1097/RLU.0b013e318270830f>.
24. Arnaud L, Hervier B, Néel A et al. CNS involvement and treatment with interferon-α are independent prognostic factors in Erdheim-Chester disease: a multicenter survival analysis of 53 patients. Blood 2011; 117(10): 2778–2782. Dostupné z DOI: <http://dx.doi.org/10.1182/blood-2010–06–294108>.
25. Haroche J, Arnaud L, Amoura Z. Erdheim-Chester disease. Curr Opin Rheumatol 2012; 24(1): 53–59. Dostupné z DOI: <http://dx.doi.org/10.1097/BOR.0b013e32834d861d>.
26. Mazor RD, Manevich-Mazor M, Shoenfeld Y. Erdheim-Chester Disease: a comprehensive review of the literature. Orphanet J Rare Dis 2013; 8: 137. Dostupné z DOI: <http://dx.doi.org/10.1186/1750–1172–8-137>.
27. Breuil V, Brocq O, Pellegrino C et al. Erdheim-Chester disease: typical radiological bone features for a rare xanthogranulomatosis. Ann Rheum Dis 2002; 61(3): 199–200.
28. Wilejto M, Abla O. Langerhans cell histiocytosis and Erdheim-Chester disease. Curr Opin Rheumatol 2012; 24(1): 90–96. Dostupné z DOI: <http://dx.doi.org/10.1097/BOR.0b013e32834db53e>.
29. Haroche J, Arnaud L, Cohen-Aubart F et al. Erdheim-Chester disease. Rheum Dis Clin North Am 2013; 39(2): 299–311. Dostupné z DOI: <http://dx.doi.org/10.1016/j.rdc.2013.02.011>.
30. Urban ML, Palmisano A, Nicastro M. Idiopathic and and secondary forms of retroperitoneal fibrosis: a diagnostic approach. Rev Med Interne 2015; 36(1): 15–21. Dostupné z DOI: <http://dx.doi.org/10.1016/j.revmed.2014.10.008>.
31. Beyer G, Schwaiger T, Lerch MM et al. IgG4-related disease: a new kid on the block or an old aquaintance? United European Gastroenterol J 2014; 2(3): 165–172. Dostupné z DOI: <http://dx.doi.org/10.1177/2050640614532457>.
32. van Bommel EF, de Mol M, Langerak AW et al. Idiopathic retroperitoneal fibrosis mimicking malignant lymphoma. Pathol Int 2011; 61(11): 672–676. Dostupné z DOI: <http://dx.doi.org/10.1111/j.1440–1827.2011.02718.x>.
33. Serratrice J, Granel B, De Roux C et al. “Coated aorta”: a new sign of Erdheim-Chester disease. J Rheumatol 2000; 27(6): 1550–1553.
34. Nicolazzi MA, Carnicelli A, Fuorlo M et al. Cardiovascular Involvement in Erdheim-Chester Disease: A Case Report and Review of the Literature. Medicine (Baltimore) 2015; 94(43): e1365. Dostupné z DOI: <http://dx.doi.org/10.1097/MD.0000000000001365>.
35. 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(10): 1691–1695. Dostupné z DOI: <http://dx.doi.org/10.1136/annrheumdis-2012–202542>.
36. Haroche J, Cluzel P, Toledano D et al. Images in cardiovascular medicine. Cardiac involvement in Erdheim-Chester disease: magnetic resonance and computed tomographic scan imaging in a monocentric series of 37 patients. Circulation 2009; 119(25): e597-e598. Dostupné z DOI: <http://dx.doi.org/10.1161/CIRCULATIONAHA.108.825075>.
37. Haroche J, Amoura Z, Dion E et al. Cardiovascular involvement, an overlooked feature of Erdheim-Chester disease: report of 6 new cases and a literature review. Medicine (Baltimore) 2004; 83(6): 371–392.
38. Fink MG, Levinson DJ, Brown NL et al. Erdheim-Chester disease. Case report with autopsy findings. Arch Pathol Lab Med 1991; 115(6): 619–623.
39. Loeffler AG, Memoli VA. Myocardial involvement in Erdheim-Chester disease. Arch Pathol Lab Med 2004; 128(6): 682–685.
40. 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(11): 3504–3512. Dostupné z DOI: <http://dx.doi.org/10.1002/art.27672>.
41. 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(2): 586–594. Dostupné z DOI: <http://dx.doi.org/10.1148/radiol.10090320>.
42. Lachenal F, Cotton F, Desmurs-Clavel H et al. Neurological manifestations and neuroradiological presentation of Erdheim-Chester disease: report of 6 cases and systematic review of the literature. J Neurol 2006; 253(10): 1267–1277.
43. Pautas E, Chérin P, Pelletier S et al. Cerebral Erdheim-Chester disease: report of two cases with progressive cerebellar syndrome with dentate abnormalities on magnetic resonance imaging. J Neurol Neurosurg Psychiatry 1998; 65(4): 597–599.
44. Lalitha P, Reddy MC, Reddy KJ. Extensive intracranial juvenile xanthogranulomas. AJNR Am J Neuroradiol 2011; 32(7): E132-E133. Dostupné z DOI: <http://dx.doi.org/10.3174/ajnr.A2209>.
45. Grois N, Fahrner B, Arceci RJ et al. Central nervous system disease in Langerhans cell histiocytosis. J Pediatr 2010; 156(6): 873–881. Dostupné z DOI: <http://dx.doi.org/10.1016/j.jpeds.2010.03.001>.
46. Kitai R, Llena J, Hirano A et al. Meningeal Rosai-Dorfman disease: report of three cases and literature review. Brain Tumor Pathol 2001; 18(1): 49–54.
47. Karcioglu ZA, Sharara N, Boles TL et al. Orbital xanthogranuloma: clinical and morphologic features in eight patients. Ophthal Plast Reconstr Surg 2003; 19(5): 372–381.
48. 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(1): 305–313. Dostupné z DOI: <http://dx.doi.org/10.1210/jc.2015–3357>.
49. Namwongprom S, Núñez R, Kim EE et al. Tc-99m MDP bone scintigraphy and positron emission tomography/computed tomography (PET/CT) imaging in Erdheim-Chester disease. Clin Nucl Med 2007; 32(1): 35–38.
50. Lin E. FDG PET/CT for biopsy guidance in Erdheim-Chester disease. Clin Nucl Med 2007; 32(11): 860–861.
51. Steňová E, Steňo B, Povinec P et al. FDG-PET in the Erdheim-Chester disease: its diagnostic and follow-up role. Rheumatol Int 2012; 32(3): 675–678. Dostupné z DOI: <http://dx.doi.org/10.1007/s00296–010–1676-y>.
52. Jendro MC, Zeidler H, Rosenthal H et al. Improvement of Erdheim-Chester disease in two patients by sequential treatment with vinblastine and mycophenolate mofetil. Clin Rheumatol 2004; 23(1): 52–56.
53. Broccoli A, Stefoni V, Faccioli L 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): 2209–2213. Dostupné z DOI: <http://dx.doi.org/10.1007/s00296–011–1998–4>.
54. Jeon IS, Lee SS, Lee MK. Chemotherapy and interferon-alpha treatment of Erdheim-Chester disease. Pediatr Blood Cancer 2010; 55(4): 745–747. Dostupné z DOI: <http://dx.doi.org/10.1002/pbc.22636>.
55. Bourke SC, Nicholson AG, Gibson GJ. Erdheim-Chester disease: pulmonary infiltration responding to cyclophosphamide and prednisolone. Thorax 2003; 58(11): 1004–1005.
56. Wu Z, Yan J, Hong W et al. A case of Erdheim-Chester disease with bilateral orbital involvement. Yan Ke Xue Bao 2001; 17(3): 163–167.
57. Yano S, Kobayashi K, Kato K et al. A case of Erdheim-Chester disease effectively treated by cyclophosphamide and prednisolone. Nihon Kokyuki Gakkai Zasshi 2007; 45(1): 43–48.
58. Gaspar N, Boudou P, Haroche J 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): 1121–1125.
59. 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): 844–845.
60. Mascalchi M, Nencini P, Nistri M et al. Failure of radiation therapy for brain involvement in Erdheim Chester disease. J Neurooncol 2002; 59(2): 169–172.
61. Miller RC, Villà S, Kamer S et al. Palliative treatment of Erdheim-Chester disease with radiotherapy: a Rare Cancer Network study. Radiother Oncol 2006; 80(3): 323–326.
62. Singh V, Prajeeth CK, Gudi V et al. 2-Chlorodeoxyadenosine (cladribine) induces apoptosis in human monocyte-derived dendritic cells. Clin Exp Immunol 2013; 173(2): 288–297. Dostupné z DOI: <http://dx.doi.org/10.1111/cei.12109>.
63. 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): 248–250. Dostupné z DOI: <http://dx.doi.org/10.3109/0284186X.2015.1023463>.
64. Myra C, Sloper L, Tighe PJ et al. Treatment of Erdheim-Chester disease with cladribine: a rational approach. Br J Ophthalmol 2004; 88(6): 844–847.
65. Perić P, Antić B, Knezević-Usaj S et al. Successful treatment with cladribine of Erdheim-Chester disease with orbital and central nervous system involvement developing after treatment of Langerhans cell histiocytosis. Vojnosanit Pregl 2016; 73(1): 83–87.
66. Rajendra B, Duncan A, Parslew R et al. Successful treatment of central nervous system juvenile xanthogranulomatosis with cladribine. Pediatr Blood Cancer 2009; 52(3): 413–415. Dostupné z DOI: <http://dx.doi.org/10.1002/pbc.21830>.
67. Sheidow TG, Nicolle DA, Heathcote JG. Erdheim-Chester disease: two cases of¨orbital involvement. Eye (Lond) 2000; 14(Pt 4): 606–612.
68. Sutton L, Sutton S, Sutton M. Treatment of necrobiotic xanthogranuloma with 2-chlorodeoxyadenosine. Skinmed 2013; 11(2): 121–123.
69. Adam Z, Řehák Z, Koukalová R et al. PET-CT dokumentovaná kompletní 4letá remise Erdheimovy-Chesterovy nemoci po léčbě kladribinem. Vnitř lék 2014; 60(5–6): 499–511.
70. 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(9): 2992–2994.
71. 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(10): 3330–3336.
72. Hervier B, Arnaud L, Charlotte F et al. Treatment of Erdheim-Chester Disease with long-term high-dose interferon-α. Semin Arthritis Rheum 2012; 41(6): 1–7. Dostupné z DOI: <http://dx.doi.org/10.1016/j.semarthrit.2011.11.004>.
73. Esmaeli B, Ahmadi A, Tang R et al. Interferon therapy for orbital infiltration secondary to Erdheim-Chester disease. Am J Ophthalmol 2001; 132(6): 945–947.
74. Suzuki HI, Hosoya N, Miyagawa K et al. Erdheim-Chester disease: multisystem involvement and management with interferon-alpha. Leuk Res 2010; 34(1): e21-e24. Dostupné z DOI: <http://dx.doi.org/10.1016/j.leukres.2009.07.026>.
75. Aouba A, Georgin-Lavialle S, Pagnoux C et al. Rationale and efficacy of interleukin-1 targeting in Erdheim-Chester disease. Blood 2010; 116(20): 4070–4076. Dostupné z DOI: <http://dx.doi.org/10.1182/blood-2010–04–279240>.
76. Podestà MA, Graziani G, Reggiani F et al. Improvement of Erdheim-Chester disease-related renal failure after treatment with anakinra. Kidney Res Clin Pract 2014; 33(3): 165–167. Dostupné z DOI: <http://dx.doi.org/10.1016/j.krcp.2014.07.007>.
77. Szturz P, Adam Z, Rehák Z et al. Xanthelasma palpebrarum responding to interleukin-1 blockade. Intern Med J 2014; 44(6): 617–618. Dostupné z DOI: <http://dx.doi.org/10.1111/imj.12441>.
78. Darstein F, Kirschey S, Heckl S 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): 90–92. Dostupné z DOI: <http://dx.doi.org/10.1111/imj.12329>.
79. Courcoul A, Vignot E, Chapurlat R. Successful treatment of Erdheim-Chester disease by interleukin-1 receptor antagonist protein. Joint Bone Spine 2014; 81(2): 175–177. Dostupné z DOI: <http://dx.doi.org/10.1016/j.jbspin.2013.06.013>.
80. Killu AM, Liang JJ, Jaffe AS Erdheim-Chester disease with cardiac involvement successfully treated with anakinra. Int J Cardiol 2013; 167(5): e115-e117. Dostupné z DOI: <http://dx.doi.org/10.1016/j.ijcard.2013.04.057>.
81. Aubert O, Aouba A, Deshayes S et al. Favorable radiological outcome of skeletal Erdheim-Chester disease involvement with anakinra. Joint Bone Spine 2013; 80(2): 206–207. Dostupné z DOI: <http://dx.doi.org/10.1016/j.jbspin.2012.07.005>.
82. Tran TA, Pariente D, Lecron JC et al. Treatment of pediatric Erdheim-Chester disease with interleukin-1-targeting drugs. Arthritis Rheum 2011; 63(12): 4031–4032. Dostupné z DOI: <http://dx.doi.org/10.1002/art.30638>.
83. 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(11): 1509–1512. Dostupné z DOI: <http://dx.doi.org/10.1182/blood-2015–09–672667>.
84. Dagna L, Corti A, Langheim S et al. Tumor necrosis factor α as a master regulator of inflammation in Erdheim-Chester disease: rationale for the treatment of patients with infliximab. J Clin Oncol 2012; 30(28): e286-e290. Dostupné z DOI: <http://dx.doi.org/10.1200/JCO.2012.41.9911>.
85. 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(1): 198–200. Dostupné z DOI: <http://dx.doi.org/10.1093/rheumatology/ket246>.
86. Haroche J, Amoura Z, Charlotte F et al. Imatinib mesylate for platelet-derived growth factor receptor-beta-positive Erdheim-Chester histiocytosis. Blood 2008; 111(11): 5413–5415. Dostupné z DOI: <http://dx.doi.org/10.1182/blood-2008–03–148304>.
87. Janku F, Amin HM, Yang D et al. Response of histiocytoses to imatinib mesylate: fire to ashes. J Clin Oncol 2010; 28: e633-e636. Dostupné z DOI: <http://dx.doi.org/10.1200/JCO.2010.29.9073>.
88. Montella L, Insabato L, Palmieri G. Imatinib mesylate for cerebral Langerhans’-cell histiocytosis. N Engl J Med 2004; 351(10): 1034–1035.
89. Utikal J, Ugurel S, Kurzen H et al. Imatinib as a treatment option for systemic non-Langerhans cell histiocytoses. Arch Dermatol 2007; 143(6): 736–740.
90. 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(9): 1495–1500. Dostupné z DOI: <http://dx.doi.org/10.1182/blood-2012–07–446286>.
91. Franconieri F, Martin-Silva N, de Boyssson H et al. A. 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): 930–932. Dostupné z DOI: <http://dx.doi.org/10.3109/0284186X.2015>.
92. Schirmer JH, Thorns C, Moosig F et al. Treatment failure by canakinumab in a patient with progressive multisystemic Erdheim-Chester disease refractory to anakinra: successful use of vemurafenib. Rheumatology (Oxford) 2015; 54(10): 1932–1934. Dostupné z DOI: <http://dx.doi.org/10.1093/rheumatology/kev237>.
93. Tzoulis C, Schwarzlmüller T, Gjerde IO et al. Excellent response of intramedullary Erdheim-Chester disease to vemurafenib: a case report. BMC Res Notes 2015; 8: 171. Dostupné z DOI: <http://dx.doi.org/10.1186/s13104–015–1135–7>.
94. Euskirchen P, Haroche J, Emile JF et al. Complete remission of critical neurohistiocytosis by vemurafenib. Neurol Neuroimmunol Neuroinflamm 2015; 2(2): e78. Dostupné z DOI: <http://dx.doi.org/10.1212/NXI.0000000000000078>.
95. 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(5): 411–418. Dostupné z DOI: <http://dx.doi.org/10.1200/JCO.2014.57.1950>.
96. Cohen-Aubart F, Emile JF, Maksud P et al. Marked efficacy of vemurafenib in suprasellar Erdheim-Chester disease. Neurology 2014; 83(14): 1294–1296. Dostupné z DOI: <http://dx.doi.org/10.1212/WNL.0000000000000832>.
97. Benoist N, Mikail N, Deshchamps H et al. Erdheim Chester disease as assessed by modern multimodality imaging. Int J Cardiol 2016; 207: 235–237. Dostupné z DOI: <http://dx.doi.org/10.1016/j.ijcard.2016.01.165>.
98. Veyssier-Belot C, Cacoub P, Caparros-Lefebvre D et al. Erdheim-Chester disease. Clinical and radiologic characteristics of 59 cases. Medicine (Baltimore) 1996; 75(3): 157–169.
99. Dion E, Graef C, Haroche J et al. Imaging of Thoracoabdominal Involvement in Erdheim-Chester Disease. AJR Am J Roentgenol 2004; 183(5): 1253–1260.
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Internal Medicine
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