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PET-CT documented complete remission of Erdheim-Chester disease, lasting more than 4 years from treatment initiation with cladribine


Authors: Zdeněk Adam 1;  Zdeněk Řehák 2;  Renata Koukalová 2;  Zbyněk Bortlíček 5;  Marta Krejčí 1;  Luděk Pour 1;  Petr Szturz 1;  Jiří Prášek 3;  Tomáš Nebeský 1;  Zdenka Adamová 6;  Zdeněk Král 1;  Jiří Mayer 1
Authors place of work: Interní hematologická a onkologická klinika LF MU a FN Brno, pracoviště Bohunice, přednosta prof. MUDr. Jiří Mayer, CSc. 1;  Oddělení nukleární medicíny, PET centrum Masarykova onkologického ústavu Brno, přednosta prim. MUDr. Zdeněk Řehák, Ph. D. 2;  Klinika nukleární medicíny LF MU a FN Brno, pracoviště Bohunice, přednosta doc. MUDr. Jiří Prášek, CSc. 3;  Radiologická klinika LF MU a FN Brno, pracoviště Bohunice, přednosta prof. MUDr. Vlastimil A. Válek, CSc., MBA 4;  Institut biostatisky a analýz LF MU Brno, ředitel doc. RNDr. Ladislav Dušek, Ph. D. 5;  Soukromá ordinace praktického lékaře pro děti a dorost, Obilní trh 9, Brno 6
Published in the journal: Vnitř Lék 2014; 60(5-6): 499-511
Category: Case Report

Summary

Erdheim-Chester disease is a very rare histiocytic disease. It represents one form of juvenile xanthogranuloma in WHO classification of blood diseases. The disease often causes B symptoms, skeletal pain and also may cause diabetes insipidus and retroperitoneal fibrosis. Selection of therapy depends on published case reports and small clinical trials. There are no recommendations for treatment based on randomized studies. Interferon α is probably the most commonly used drug for this disease. Some remissions have been described after treatment. However, long-term interferon α application is needed which is associated with numerous side effects. There are limited experiences with clabridine in this indication. In Pubmed Medline database, we have found 3 publications dedicated to description of treatment response after cladribine in Erdheim-Chester disease and other 7 papers evaluating effect of cladribine on juvenile xanthogranuloma forms, mostly with positive outcome. Based on these 10 publications we choose cladribine as first-line treatment in our patient. The treatment started in October 2009 with combination of 2-chlorodeoxyadenosine (Litak) 5 mg/m2 sc. + cyclophosphamide 150 mg/m2 iv. + dexamethasone 24 mg iv., five days consecutively. These cycles were repeated monthly. Mentioned formula was submitted 4 times and 3 times in limited application on day 1 – 3. The reason of that was neutropenia grade 3. All symptoms disappeared after treatment. Only diabetes insipidus persisted because damage of pituitary stalk is irreversible. Therapeutic effect was monitored by PET-CT imaging, initially every 6 months, later in 12-month intervals. PET-CT imaging showed complete remission of disease and 4.5 years duration of remission after treatment. The treatment was well tolerated with no complications implying hospitalization. Only mild thrombocytopenia and neutropenia remains after 4.5 years. Based on case report and publications we consider cladribine as appropriate firs-line drug for Erdheim-Chester disease. Therapeutic failure after 3–4 cycles may suggest other options (interferon α, anakinra, vemurafenib), but only in the case if healthcare provider is willing to cover this new and more expansive treatment than therapy with cladribine.

Key words:
anakinra – cladribine – Erdheim-Chester disease –interferon α – juvenile xanthogranuloma – PET-CT in diagnosis of fever of unknown origin – vemurafenib – 2-chlorodeoxydenosin


Zdroje

1. Swerdlow SH, Campo E, Harris NL et al. WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues. Vol.2. 4th edition. WHO Press: Lyon 2008. ISBN 9789283224310.

2. Chester W. Über lipoidgranulomatose. Virchows Arch Pathol Anat 1930; 279: 561–602.

3. Křivanová A, Adam Z, Mayer J et al. Horečka nejasného původu – etiologie a diagnostický algoritmus. Vnitř Lék 2007; 53(2): 169–178.

4. Alušík S. Horečka nejasného původu. Vnitř Lék 1995; 41(12): 827–831.

5. Saudek F. Horečka nejasného původu. Čas Lék Česk 1983; 122(15): 452–458.

6. Salzberger B, Müller-Schilling M, Fleck M. Fever of unknown origin. Z Rheumatol 2013; 72(3): 255–266.

7. Horowitz HW. Fever of unknown origin or fever of too many origins? N Engl J 2013; 368(3): 197–199.

8. Koranda P, Mysliveček M. Pozitronová emisní tomografie při stanovení diagnózy vaskulitidy velkých cév – jedné z příčin horeček nejasného původu. Vnitř Lék 2006; 52(11): 1002–1003.

9. Buysschaert I, Vanderschueren S, Blockmans D et al. Contribution of (18)fluoro-deoxyglucose positron emission tomography to the work-up of patients with fever of unknown origin. Eur J Intern Med 2004; 15(3): 151–156.

10. Blockmans D, Knockaert D, Maes A et al. Clinical value of [(18)F]fluoro-deoxyglucose positron emission tomography for patients with fever of unknown origin. Clin Infect Dis 2001; 32(2): 191–196.

11. Fleck M. Fever of unknown origin – differential diagnosis and diagnostic evaluation. Dtsch Med Wochenschr 2013; 138(37): 1828–1832.

12. Kouijzer IJ, Bleeker-Rovers CP, Oyen WJ. FDG-PET in fever of unknown origin. Semin Nucl Med 2013; 43(5): 333–339.

13. Hao R, Yuan L, Kan Y et al. Diagnostic performance of 18F-FDG PET/CT in patients with fever of unknown origin: a meta-analysis. Nucl Med Commun 2013; 34(7): 682–688.

14. Halcin A, Kinova S. Contribution of PET/CT imaging to differential diagnosis of fever of unknown origin. Bratisl Lek Listy 2013; 114(2): 67–70.

15. Kim YJ, Kim SI, Hong KW et al. Diagnostic value of 18F-FDG PET/CT in patients with fever of unknown origin. Intern Med J 2012; 42(7): 834–837.

16. Qiu L, Chen Y. The role of 18F-FDG PET or PET/CT in the detection of fever of unknown origin. Eur J Radiol 2012; 81(11): 3524–3529.

17. Kinkor Z, Koudela K, Koudela K et al. Warfarinem vyvolaná hemorhagická pseudocysta malé pánve u ženy s vrozeným genetickým defektem koagulace komplikovaná usuračním pseudoxanthomem pánevní kosti napodobující Erdheimovu-Chesterovu nemoc. Acta Chir Ortop Traum Čech 2007; 74(2): 114–117.

18. Kinkor Z. Severe pulmonary involvement in Erdheim-Chester disease (case report). Cesk Patol 2001; 37(3): 114–117.

19. Kinkror Z. Závažné plicní postižení u Erdheimovy-Chesterovy nemoci. Čes Slov Patol Soudní Lék 2001; 37(3): 114–117.

20. Kolář J, Kučera V, Povýšil C et al. Erdheim-Chester disease. Rofo 1984; 141(6): 698–701.

21. Mergancová J, Kubes L, Elleder M. Xanthogranulomatous processes in the area of the large vessels. Cesk Patol 1986; 22(3): 145–150.

22. Mergancová J, Kubeš L, Elleder M. A xantogranulomatous process encircling large blood vessels (Erdheim-Chester disease). Czech Med 1988; 11(1): 57–64.

23. Kučera, V, Čáp V, Kužel J et al. Vzácná příčina osteosklerózy: Erdheimův Chesterův syndrome. Cesk Radiol 1984; 38(6): 393–402.

24. Janková H, Říhová E. Juvenilní xantogranulom. Oftalmologie v kasuistikách 2007; 3: 214–218.

25. Vašáková M. Co je to Erdheimova nemoc? Kazuist. Alergol. Pneumol. ORL 2006; 3 (4): 22–28.

26. Mottl H, Starý J, Chánová M et al. Treatment of recurrent Langerhans cell histiocytosis in children with 2-chlorodeoxyadenosine. Leuk Lymphoma 2006; 47(9): 1881–1884.

27. Mottl H, Rob L, Stary J et al. Langerhans cell histiocytosis of vulva in adolescent. Int J Gynecol Cancer 2007; 17(2): 520–524.

28. Mottl H, Ganevová M, Radvanská J et al. Treatment results of Langerhans cell histiocytosis with LSH II protocol. Cas Lek Cesk 2005; 144(11): 753–755.

29. Mottl H, Mrácek J, Kabelka Z et al. Langerhans-cell histiocytosis in children. Česk Pediatr 1992; 47(9): 530–533.

30. Plank L. Diagnostická patológia non-Langerhans cell histiocytóz. Vnitř Lék 2010; 56 (Suppl 2): S27-S38.

31. 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.

32. 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(10): 2778–2782.

33. 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.

34. 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.

35. 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://doi: 10.1016/j.leukres.2009.07.026>.

36. 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(6): 907–913.

37. 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.

38. Adam Z, Pour L, Svobodník A et al. Kvalita života a tolerance udržovací léčby u mnohočetného myelomu. Vnitř Lék 2002; 48(3): 216–229.

39. Veyssier-Belot C, Cacoub P, Caparros -Lefebvre D et al. Erdheim-Chester disease. Clinical and radiologic characteristics of 59 cases. Medicine 1996; 75: 157–169.

40. 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.

41. 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.

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

43. 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.

44. Aouba A, Larousserie F, Le Guern V et al. Spumous histiocytic oligoarthritis coexisting with systemic Langerhans’ cell histiocytosis: case report and literature review. Joint Bone Spine 2009; 76(6): 701–704.

45. Blouin P, Yvert M, Arbion F et al. Juvenile xanthogranuloma with hematological dysfunction treated with 2CDA-AraC. Pediatr Blood Cancer 2010; 55(4): 757–760.

46. 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.

47. Khezri F, Gibson LE, Tefferi A. Xanthoma disseminatum: effective therapy with 2-chlorodeoxyadenosine in a case series. Arch Dermatol 2011; 147(4): 459–464.

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

49. Tamir I, Davir R, Fellig Y et al. Solitary juvenile xanthogranuloma mimicking intracranial tumor in children. J Clin Neurosci 2013; 20(1): 183–188.

50. Orsey A, Paessler M, Lange BJ et al. Central nervous system juvenile xanthogranuloma with malignant transformation. Pediatr Blood Cancer 2008; 50(4): 927–930.

51. Yamada K, Yasui M, Sawada A et al. Severe persistent bone marrow failure following therapy with 2-chlorodeoxyadenosine for relapsing juvenile xanthogranuloma of the brain. Pediatr Blood Cancer 2012; 58(2): 300–302.

52. Oweity T, Scheithauer BW, Ching HS et al. Multiple system Erdheim-Chester disease with massive hypothalamic-sellar involvement and hypopituitarism. J Neurosurg 2002; 96(2): 344–351.

53. Mossetti G, Rendina D, Numis FG et al. Biochemical markers of bone turnover, serum levels of interleukin-6/interleukin-6 soluble receptor and bisphosphonate treatment in Erdheim-Chester disease. Clin Exp Rheumatol 2003; 21(2): 232–236.

54. Srikulmontree T, Massey HD, Roberts WN. Treatment of skeletal Erdheim-Chester disease with zoledronic acid: case report and proposed mechanisms of action. Rheumatol Int 2007; 27(3): 303–307.

55. Eyigor S, Kirazli Y, Memis A et al. Erdheim-Chester disease: the effect of bisphosphonate treatment–a case report. Arch Phys Med Rehabil 2005; 86(5): 1053–1057.

56. Clerico A, Ragni G, Cappelli C et al. Erdheim-Chester disease in a child. Med Pediatr Oncol 2003; 41(6): 575–577.

57. 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.

58. 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.

59. Aubert O, Aouba A, Deshayes S et al. Favorable radiological outcome of skeletal Erdheim-Chester disease involvement with anakinra. Joint Bone Spine 2012; 80(2): 206–207.

60. 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.

61. Killu AM, Liang JJ, Jaffe AS. Erdheim-Chester disease with cardiac involvement successfully treated with anakinra. Int J Cardio 2013; 167(5): e115-e117. Dostupné z DOI: <http://doi: 10.1016/j.ijcard.2013.04.057>.

62. 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.

63. 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.

64. Adam Z, Szturz P, Bučková P et al. Blokáda receptoru pro interleukin-1 preparátem anakinra vedla u pacienta s Erdheimovou-Chesterovou nemocí k vymizení patologické únavy, k poklesu markerů zánětu a ústupu fibrózy v retroperitoneu. Vnitř Lék 2012; 58(4): 313–318.

65. 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(12): e28-e34.

66. Badalian-Very G, Vergilio JA, Degar BA et al. Recurrent BRAF mutations in Langerhans cell histiocytosis. Blood 2010; 116(11): 1919–1923.

67. 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://doi: 10.1371/journal.pone.0033891>.

68. Yousem SA, Dacic S, Nikiforov YE et al. Pulmonary Langerhans cell histiocytosis: profiling of multifocal tumors using next-generation sequencing identifies concordant occurrence of BRAF V600E mutations. Chest 2013; 143(6): 1679–1684.

69. Kansal R, Quintanilla-Martinez L, Datta V. Identification of the V600D mutation in Exon 15 of the BRAF oncogene in congenital, benign langerhans cell histiocytosis. Genes Chromosomes Cancer 2013; 52(1): 99–106.

70. Tadmor T, Tiacci E, Falini B et al. The BRAF-V600E mutation in hematological malignancies: a new player in hairy cell leukemia and Langerhans cell histiocytosis. Leuk Lymphoma 2012; 53(12): 2339–2340.

71. 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.

72. 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.

73. Janku F, Amin HM, Yang D et al. Response of histiocytoses to imatinib mesylate: fire to ashes. J Clin Oncol 2010; 28(31): e633-e636. Dostupné z DOI: <http:// doi: 10.1200/JCO.2010.29.9073>.

74. 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.

75. 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.

76. Chohan G, Barnett Y, Gibson J et al. Langerhans cell histiocytosis with refractory central nervous system involvement responsive to infliximab. J Neurol Neurosurg Psychiatry 2012; 83(5): 573–575.

77. De Knop KJ, Aerts NE, Ebo DG et al. Multicentric reticulohistiocytosis associated arthritis responding to anti-TNF and methotrexate. Acta Clin Belg 2011; 66(1): 66–69.

78. Sakaguchi M, Nagai H, Tsuji G et al. Effectiveness of infliximab for intralymphatic histiocytosis with rheumatoid arthritis. Arch Dermatol 2011; 147(1): 131–133.

79. Aouba A, De Bandt M, Aslangul E et al. Haemophagocytic syndrome in a rheumatoid arthritis patient treated with infliximab. Rheumatology (Oxford) 2003; 42(6): 800–802.

80. Sellam J, Deslandre CJ, Dubreuil F et al. Refractory multicentric reticulohistiocytosis treated by infliximab: two cases. Clin Exp Rheumatol 2005; 23(1): 97–99.

81. Lee MW, Lee EY, Jeong YI et al. Successful treatment of multicentric reticulohistiocytosis with a combination of infliximab, prednisolone and methotrexate. Acta Derm Venereol 2004; 84(6): 478–479.

82. Henzan T, Nagafuji K, Tsukamoto H et al. Success with infliximab in treating refractory hemophagocytic lymphohistiocytosis. Am J Hematol 2006; 81(1): 59–61.

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Diabetology Endocrinology Internal medicine

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Internal Medicine

Číslo 5-6

2014 Číslo 5-6
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