Treatment of Erdheim-Chester disease with 2-chlorodeoxyadenozine, cyclophosphamide a dexamethasone led to partial remission in one patient. Two case studies and literature review
Authors:
Z. Adam 1; R. Koukalová 2; A. Šprláková 3; Z. Řehák 2; L. Červinek 1; P. Szturz 1; M. Krejčí 1; L. Pour 1; L. Zahradová 1; M. Moulis 4; J. Prášek 5; R. Chaloupka 6; R. Hájek 1; J. Mayer 1
Authors place of work:
Interní hematoonkologická klinika Lékařské fakulty MU a FN Brno, pracoviště Bohunice, přednosta prof. MUDr. Jiří Mayer, CSc.
1; Oddělení PET-CT Masarykova onkologického ústavu Brno, přednosta prim. MUDr. Karol Bolčák
2; Radiologická klinika Lékařské fakulty MU a FN Brno, pracoviště Bohunice, přednosta prof. MUDr. Vlastimil A. Válek, CSc., MBA
3; Ústav patologie Lékařské fakulty MU a FN Brno, pracoviště Bohunice, přednosta doc. MUDr. Josef Feit, CSc.
4; Klinika nukleární medicíny Lékařské fakulty MU a FN Brno, pracoviště Bohunice, přednosta doc. MUDr. Jiří Prášek, CSc.
5; Klinika ortopedie Lékařské fakulty MU a FN Brno, pracoviště Bohunice, přednosta doc. MUDr. Richard Chaloupka, CSc.
6
Published in the journal:
Vnitř Lék 2011; 57(6): 576-589
Category:
Case Reports
Summary
Introduction:
Erdheim-Chester disease is an extremely rarely occuring condition and thus an optimal treatment is not known. Two new cases have been diagnosed in our centre in 2008 and 2009. Both patients had diabetes insipidus, B symptoms (subfebrile to febrile states) and pain in long bones of lower limbs.
Case studies:
Imaging showed high accumulation of fluorodeoxyglucose as well as Tc-pyrophosphate in long bones of lower as well as upper limbs, aortic wall thickening with periaortic fibrosis and perirenal fibrosis. In addition, one of the patients had multiple lesions in the brain. 2-chlorodeoxyadenozine 5 mg/m2 s.c. and cyclophosphamide 150 mg/m2 administered on days 1 to 5 in 28-day cycles were selected for the treatment of both patients. Dexamethasone 24 mg/day for 5 days was added to this treatment in the second patient. Six cycles of the treatment were planned. Both patients were prescribed bisphosphonates – zoledronate and clodronate, respectively. Treatment effect was assessed with PET-CT and MR. Following treatment completion, brain infiltrates were reduced to a small residuum in the first patient whot did not anymore complain of leg pain. However, there was no reduction in fluorodeoxyglucose accumulation in bone lesions and thus treatment response was assessed as partial remission. This patient is currently receiving a second line treatment and treatment follow-up is 26 months from the diagnosis. Repeated PET-CTs in the second patient showed a significant reduction in accumulation of fluorodeoxyglucose in all pathological lesions. Febrile states and pain in long bones as well as pathological fatigue ceased after the treatment. Increased CPR and fibrinogen gradually returned to their normal levels. This response is assessed as complete remission. This patient’s follow-up is 16 months from the diagnosis.
Conclusion:
Administration of 2-chlorodeoxyadenozine (5 mg/m2 s.c.) + cyclophosphamide (150 mg/m2 intravenously) and dexamethasone (24 mg/day) led to partial remission in one patient; nearly complete remission of CNS infiltrates but persistent elevation of fluorodeoxyglucose accumulation in bone lesions. Complete remission with a significant reduction in accumulation of fluorodeoxyglucose in all disease lesions with normalization of originally increased inflammatory markers and disappearance of all symptoms of the disease was achieved in the second patient.
Key words:
Erdheim-Chester disease – juvenile xanthogranuloma – PET-CT imagination – bone scan – 2-chlorodeoxadenosine – cladribine – cyclophosphamide – dexamethasone – fewer of unknown origin – osteosclerosis – hyperostosis – osteoporosis – retroperitoneal fibrosis – Ormonds disease
Zdroje
1. Sverdlow SH, Campo E, Harris NL et al (eds). WHO Classification of tumours of haematopoietic and lymphoid tissues. 4th ed. WHO Press Lyon 2008; 439.
2. 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 Čechoslov 2007; 74: 114–117.
3. Kinkor Z. Severe pulmonary involvement in Erdheim-Chester disease (case report). Cesk Patol 2001; 37: 114–117.
4. Kinkor Z. Závažné plicní postižení u Erdheimovy-Chesterovy nemoci. Čes Slov Patol 2001; 37: 114–117.
5. Kolar J, Kucera V, Povysil C et al. Erdheim--Chester disease. Rofo 1984; 141: 698–701.
6. Mergancová J, Kubes L, Elleder M. Xanthogranulomatous processes in the area of the large vessels. Česk Patol 1986; 22: 145–150.
7. Mergancová J, Kubeš L, Elleder M. A xantogranulomatous process encircling large blood vessels (Erdheim-Chester disease). Czech Med 1988; 11: 57–64.
8. Kučera V, Čáp V, Kužel J et al. Vzácná příčina osteosklerózy: Erdheimův-Chesterův syndrom. ČS Radiol 1984; 38: 393–402.
9. Janková H, Říhová E. Juvenilní xantogranulom. Oftalmologie v kasuistikách 2007: 214–218.
10. Vašáková M. Co je to Erdheimova nemoc? Kazuist Alergol Pneumol ORL 2006; 3: 22–28.
11. Plank L. Diagnostická patológia non--Langerhans cell histiocytóz. Vnitř Lék 2010; 56 (Suppl 2): 2S39–2S63.
12. Szturz P, Adam Z, Koukalová R et al. Erdheimova-Chesterova nemoc v obrazech. Vnitř Lék 2010; 56 (Suppl 2): 2S170–2S178.
13. Adam Z, Zahradová L, Krejčí M et al. Difuzní plošná normolipemická xantomatóza a nekrobiotický xantogranulom, asociované s monoklonální gamapatií – přínos PET-CT pro stanovení rozsahu nemoci a zkušenosti s léčbou. Popis dvou případů a přehled literatury. Vnitř Lék 2010; 56: 1159–1168.
14. Veyssier-Belot C, Cacoub P, Caparros--Lefebvre B et al. Erdheim-Chester disease: Clinical and radiological characteristics of 59 cases. Medicine (Baltimore) 1996; 75: 157–169.
15. 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: 1267–1277.
16. Adam Z, Balšíková K, Pour L et 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: 1173–1188.
17. Sheidow TG, Nicolle DA, Heathcote JG. Erdheim-Chester disease: two cases of orbital involvement. Eye (Lond) 2000; 14: 606–612.
18. Myra C, Sloper L, Tighe PJ et al. Treatment of Erdheim-Chester disease with cladribine: a rational approach. Br J Ophthalmol 2004; 88: 844–847.
19. 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: 701–704.
20. Blouin P, Yvert M, Arbion F et al. Juvenile xanthogranuloma with hematological dysfunction treated with 2CDA-AraC. Pediatr Blood Cancer 2010; 55: 757–760.
21. Rajendra B, Duncan A, Parslew R et al. Successful treatment of central nervous system juvenile xanthogranulomatosis with cladribine. Pediatr Blood Cancer 2009; 52: 413–415.
22. Orsey A, Paessler M, Lange BJ et al. Central nervous system juvenile xanthogranuloma with malignant transformation. Pediatr Blood Cancer 2008; 50: 927–930.
23. Arnaud L, Malek Z, Archambaud F et al. 18F-fluorodeoxyglucose-positron emission tomography scanning is more useful in followup than in the initial assessment of patients with Erdheim-Chester disease. Arthritis Rheum 2009; 60: 3128–3138.
24. Tan IB, Padhy AK, Thng CH et al. Intensely hypermetabolic extra-axial brainstem tumor in Erdheim-Chester disease. Clin Nucl Med 2009; 34: 604–607.
25. Janku F, Amin HM, Yang D et al. Response of histiocytoses to imatinib mesylate: fire to ashes. J Clin Oncol 2010; 28: 633–636.
26. Haroche J, Amoura Z, Charlotte F. Imatinib mesylate for platelet-derived growth factor receptor-beta-positive Erdheim-Chester histiocytosis. Blood 2008; 111: 5413–5415.
27. Aouba A, Georgin-Lavialle S, Pagnoux Ch et al. Rationale for efficacy of interleukin-1 targeting in Erdheim-Chester disease. Blood 2010; 116: 4070–4076.
28. Srikulmontree T, Massey HD, Roberts WN et al. Treatment of skeletal Erdheim-Chester disease with zoledronic acid: case report and proposed mechanisms of action. Rheumatol Int 2007; 27: 303–307.
29. Eyigör S, Kirazli Y, Memis A et al. Erdheim-Chester disease: the effect of bisphosphonate treatment – a case report. Arch Phys Med Rehabil 2005; 86: 1053–1057.
30. 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: 232–236.
Štítky
Diabetology Endocrinology Internal medicineČlánok vyšiel v časopise
Internal Medicine
2011 Číslo 6
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