Therapy of 3 patients with Erdhiem-Chester disease with cladribin or cladribin in combination with cyclophosphamide. Case report and review of the therapy

Česká verzia

Authors: Zdeněk Král ¹; Zdeněk Řehák ²; Marta Krejčí ¹; Renata Koukalová ²; Sabina Ševčíková ³; Luděk Pour ¹; Martin Krejčí ¹; Martin Štork ¹; Viera Sandecká ¹; Zdeněk Adam ¹
Authors place of work: Interní hematologická a onkologická klinika, LF MU a FN Brno ¹; Oddělení nukleární medicíny, Masarykův onkologický ústav Brno ²; Ústav patologické fyziologie, LF MU a FN Brno ³
Published in the journal: Vnitř Lék 2021; 67(3): 157-164
Category: Review Articles

Summary

Three adult patients with confirmed Erdheim-Chester disease (ECD) are followed at our department. Cladribine in monotherapy or in combination with cyclophosphamide were used for first line therapy. The median number of cycles of cladribine or cladribine and cyclophosphamide was 7 (range 6–8). In two cases complete response was achieved, in one case this therapy achieved no response. The duration of response is in one case 11 years, in second case the follow up is too short for evaluation of response duration. In case of no-response to cladribine and cyclophosphamide stabilisation of disease was achieved with anakinra. The tolerance was good without any toxicity grade II and higher. Cladribin and cyclophosphamide is one option for treatment of Erdheim-Chester disease.

Keywords:

Erdheim-Chester disease – kladribin – anakinra

Zdroje

1. Haroche J, Cohen-Aubart F, Rollins BJ. Histiocytoses: emerging neoplasia behind inflammation. Lancet Oncol 2017; 18(2): e113–e125.

2. Papo M, Emile JF, Maciel TT et al. Erdheim-Chester Disease: a Concise Review. Curr Rheumatol Rep 2019; 21(12): 66. doi: 10.1007/s11926-019-0865-2.

3. 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.

4. 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.

5. Jeon IS, Lee SS, Lee MK. Chemotherapy and interferon-alpha treatment of Erdheim- -Chester disease. Pediatr Blood Cancer 2010; 55(4): 745–747.

6. Bourke SC, Nicholson AG, Gibson GJ. Erdheim-Chester disease: pulmonary infiltration responding to cyclophosphamide and prednisolone. Thorax 2003; 58(11): 1004–1005.

7. 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.

8. 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.

9. 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.

10. Cao XX, Niu N, Sun J et al. Efficacy of intermediate-dose cytarabine in central nervous system-relapsed wild-type BRAF Erdheim-Chester disease. Ann Hematol 2018; 97(1): 185–187.

11. Wang JN, Qiu Y, Niu N et al. Successful treatment of central nervous system involved Erdheim-Chester disease by intermediate-dose cytarabine as first-line therapy. Acta Oncol 2019: 1–4. doi: 10.1080/0284186X.2019.1670355.

12. 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.

13. Katsunori M, Yasushi N, Masahiro H. Radiotherapy for Erdheim–Chester disease. Int J Clin Oncol 2007; 12: 238–241.

14. Chicas Sett R, Pons Llanas O, Celada Álvarez F. A case report of recurrent adult-onset xanthogranuloma: is the radiotherapy a treatment option? Int Cancer Conf J 2015; 5 (2): 77–81.

15. 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.

16. Matsui K, Nagata Y, Hiraoka M. Radiotherapy for Erdheim-Chester disease. Int J Clin Oncol. 2007; 12(3): 238–241.

17. Miller R, Villá S, Kamer S et al. Palliative treatment of Erdheim–Chester disease with radiotherapy: a rare cancer network study. Radiother Oncol 2006; 80: 323–326.

18. Sivak-Callcot J, Rootman J, Rasmussen S et al. Adult xanthogranulomatous disease of the orbit and ocular adnexa: new inmunohistochemical findings and clinical review. Br J Ophthalmol 2006; 90: 602–608.

19. Veyssier-Belot C, Cacoub P, Caparros-Lefebvre D et al. Erdheim–Chester disease. Clinical and radiologic characteristics of 59 cases. Medicine 2001; 75: 157–169.

20. 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.

21. Goyal G, Ravindran A, Young JR et al. Mayo Clinic Histiocytosis Working Group. Clinicopathological features,treatment approaches, and outcomes in Rosai-Dorfman disease. Haematologica. 2019 Apr 19. pii: haematol .2019.219626. doi: 0.3324/haematol.2019.219626.

22. Adam Z, Řehák Z, Koukalová R et al. PET-CT dokumentovaná kompletní 4letá remise Erdheimovy-Chesterovy nemoci po léčbě kladribinem. Vnitřní lék 2014; 60(5–6) 499–511.

23. Azadeh N, Tazelaar HD, Gotway MB et al. Erdheim Chester Disease treated successfully with cladribine. Respir Med Case Rep 2016; 18: 37–40.

24. 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.

25. 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.

26. 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.

27. Sheidow TG, Nicolle DA, Heathcote JG. Erdheim-Chester disease: two cases of¨orbital involvement. Eye (Lond) 2000; 14(Pt 4): 606–612.

28. Sutton L, Sutton S, Sutton M. Treatment of necrobiotic xanthogranuloma with 2-chlorodeoxyadenosine. Skinmed 2013; 11(2): 121–123.

29. Tamura S, Kawamoto K, Miyoshi H et al. Cladribine treatment for Erdheim-Chester disease involving the central nervous system and concomitant polycythemia vera: A case report. J Clin Exp Hematop 2018; 58(4): 161–165.

30. Goyal G, Shah MV, Call TG et al. Clinical and Radiologic Responses to Cladribine for the Treatment of Erdheim-Chester Disease. JAMA Oncol 2017; 3(9): 1253–1256.

31. 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.

32. 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.

33. 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.

34. 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.

35. 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.

36. Arnaud L, Hervier B, Neel A 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): 2778–2782.

37. Diamond Elm, Dagna L, Hyman D et al. Consensus guidelines for the diagnosis and clinical mamagement of Erdheim Chester disease. Blood 2014; 124(4): 483–492.

38. Bulycheva EN, Baykov VV, Zaraĭskiĭ MI et al. Rare form of Erdheim-chester disease presenting with isolated central skeletal lesions treated with a combination of alfa-interferon and zoledronic Acid. Case Rep Hematol 2015; 2015: 876752. doi: 10.1155/2015/876752.

39. 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.

40. Tezol O, Citak EC, Ayhan YS et al. Effective High-dose Interferon-α Therapy in a 13-Year- Old Girl With Erdheim-Chester Disease. J Pediatr Hematol Oncol 2019. doi: 10.1097/ MPH.0000000000001538.

41. 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.

42. 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.

43. Szturz P, Adam Z, Rehák Z et al. Xanthelasma palpebrarum responding to interleukin-1 blockade. Intern Med J 2014; 44(6): 617–618.

44. 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.

45. 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.

46. Killu AM, Liang JJ, Jaffe AS. Erdheim-Chester disease with cardiac involvement successfully treated with anakinra. Int J Cardiol 2013; 167(5): e115–117.

47. 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.

48. 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.

49. 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.

50. Goyal G, Shah MV, Call TG et al. Efficacy of biological agents in the treatment of Erdheim- Chester disease. Br J Haematol. 2018; 183: 520–524.

51. Franconieri F, Deshayes S, de Boysson H et al. Superior efficacy and similar safety of double dose anakinra in Erdheim-Chester disease after single dose treatment. Oncoimmunology 2018; 7(8): e1450712. doi: 10.1080/2162402X.2018.1450712.

52. 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.

53. 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.

54. Goyal G, Shah MV, Call TG et al. Efficacy of biological agents in the treatment of Erdheim- Chester disease. Br J Haematol 2018; 183(3): 520–524.

55. Cohen-Aubart F, Maksud P, Emile J-F et al. Efficacy of infliximab in the treatment of Erdheim-Chester disease. Ann Rheum Dis 2018; 77: 1387–1390.

56. Jia X, Ning X, Bai Q et al. Combination of adalimumab with lower dose of methylprednisolone in Erdheim-Chester disease with systemic involvement. Acta Oncol. 2017; 56(5): 753–756.

57. 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.

58. Montella L, Insabato L, Palmieri G. Imatinib mesylate for cerebral Langerhans’-cell histiocytosis. N Engl J Med 2004; 351(10): 1034–1035.

59. 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.

60. Haroche J, Charlotte F, Arnaud L et al. High prevalence of BRAF V600E mutations inErdheim- Chester disease but not in other non-Langerhans cell histiocytoses. Blood 2012; 27; 120(13): 2700–2703.

61. 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.

62. 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.

63. Diamond EL, Durham BH, Haroche J et al. Diverse and targetable kinase alterations drive histiocytic neoplasms. Cancer Discov 2016; 6: 154–165.

64. Emile J-F, Diamond EL, Hélias-Rodzewicz Z et al. Recurrent RAS and PIK3CA mutations in Erdheim-Chester disease. Blood 2014; 124: 3016–3019.

65. Cohen-Aubart F, Emile JF, Maksud P et al. Marked efficacy of vemurafenib in suprasellar Erdheim-Chester disease. Neurology 2014; 83(14): 1294–1296.

66. Diamond EL, Durham BH, Ulaner GA et al. Efficacy of MEK inhibition in patients with histiocytic neoplasms. Nature 2019; 567: 521–524.

67. Euskirchen P, Haroche J, Emile JF et al. Complete remission of critical neurohistiocytosis by vemurafenib. Neurol Neuroimmunol Neuroinflamm 2015; 2(2): e78.

68. 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 Acta Oncol. 2016; 55(7): 930–930.

69. 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): 411–4118.

70. 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.

71. 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.

72. Oneal PA, Kwitkowski V, Luo L e al. FDA Approval Summary: Vemurafenib for the Treatment of Patients with Erdheim-Chester Disease with the BRAFV600 Mutation. Oncologist. 2018; 23(12): 1520–1524.

73. Diamond EL, Subbiah V, Lockhart AC et al. Vemurafenib for BRAF V600-mutant Erdheim-Chester disease and Langerhans cell histiocytosis: analysis of data from the histology-independent, phase 2, open-label VE-BASKET study. JAMA Oncol. 2018; 4: 384–388.

74. Cohen Aubart F, Emile J-F, Carrat F et al. Targeted therapies in 54 patients with Erdheim- Chester disease, including follow-up after interruption (the LOVE study). Blood 2017; 130: 1377–1380.

75. Bhatia A, Hatzoglou V, Ulaner G et al. Neurologic and oncologic features of Erdheim- -Chester disease: a 30-patient series. Neuro Oncol 2020 Jan 17. pii: noaa008. doi: 10.1093/ neuonc/noaa008.

76. Grob JJ, Amonkar MM, Karaszewska B. Comparison of dabrafenib and trametinib combination therapy with vemurafenib monotherapy on health-related quality of life in patients with unresectable or metastatic cutaneous BRAF Val600-mutation-positive melanoma (COMBI-v): results of a phase 3, open-label, randomised trial. Lancet Oncol 2015; 16(13): 1389–1398.

77. Al Bayati A, Plate T, Al Bayati M et al. Dabrafenib and Trametinib Treatment for Erdheim- Chester Disease With Brain Stem Involvement. Mayo Clin Proc Innov Qual Outcomes. 2018; 2(3): 303–308.

78. Sanders IM, Goodman A, Kurzrock R. Real word toxicity experience with BRAF/MEK inhibitors in pacients with Erdheim-Chester disease. The Oncologist 2019; 24: 1–5.

79. Campochiaro C, Cavalli G, Farina N et al. Efficacy and improved tolerability of combination therapy with interleukin-1 blockade and MAPK pathway inhibitors for the treatment of Erdheim-Chesterdisease. Ann Rheum Dis. 2019 Dec 9. pii: annrheumdis-2019-216610. doi: 10.1136/annrheumdis-2019-216610

80. Fernández-Eulate G, Muñoz-Lopetegi A, Ruiz I et al. Vemurafenib as first-line therapy in BRAF-V600E-mutant Erdheim-Chester disease with CNS involvement. BMJ Case Rep 2019; 12(11). pii: e228280. doi: 10.1136/bcr-2018-228280.

81. Van Keerberghen CA, Harrouk A, Leone L. A new role for fluorine-18-fluorodeoxyglucose positron-emission tomography/computed tomography in Erdheim-Chester disease. World J Nucl Med. 2019; 18(2): 201–203.

82. Akin EA, Osman M, Ellenbogen AL. FDG PET/CT Findings of Erdheim-Chester Disease: Radiologic Response to a Novel Treatment Regimen. Clin Nucl Med. 2018; 43(5): 337–340.

83. Young JR, Johnson GB, Murphy RC et al. (18)F-FDG PET/CT in Erdheim-Chester Disease: Imaging Findings and Potential BRAF Mutation Biomarker. J Nucl Med. 2018; 59(5): 774–779.

84. Rehák Z, Koukalová R, Vašina J et al. 18F-FDG PET/CT obraz Erdheimovy-Chesterovy nemoci – přehled českých pacientů. Nukl. Med. 20; 7: 50–56.