#PAGE_PARAMS# #ADS_HEAD_SCRIPTS# #MICRODATA#

Symptoms and manifestations of Erdheim-Chester disease


Authors: Z. Král 1;  M. Krejčí 1;  M. Ježová 2;  S. Ševčíková 3;  Z. Řehák 4;  R. Koukalová 4;  K. Starý 5;  J. Neubauer 6;  Z. Adam 1
Authors‘ workplace: Interní hematologická a onkologická klinika LF MU a FN Brno 1;  Ústav patologie LF MU a FN Brno 2;  Ústav patologické fyziologie, LF MU, Brno 3;  Oddělení nukleární medicíny, Masarykův onkologický ústav, Brno 4;  Interní gastroenterologická klinika LF MU a FN Brno, endokrinologické oddělení 5;  Klinika radiologie a nukleární medicíny LF MU a FN Brno 6
Published in: Transfuze Hematol. dnes,26, 2020, No. 3, p. 167-176.
Category: Review/Educational Papers

Overview

Erdheim-Chester disease (ECD) is a rare form of non-Langerhans-cell histiocytosis, associated in more than 50% of cases to BRAFV600E mutations in early multipotent myelomonocytic precursors or in tissue-resident histiocytes. It encompasses a spectrum of disorders ranging from asymptomatic bone lesions to multisystemic, life-threatening variants.

CNS involvement occurs in 56 % of ECD patients. Diabetes insipidus, visual disturbances, pyramidal and extra-pyramidal syndromes were the most recurrent neurological signs, whereas concomitant pituitary involvement, retro-orbital masses and axial lesions in the presence of symmetric bilateral osteosclerosis of long bones depicted the typical ECD clinical picture. Patients with CNS infiltration show a lower occurrence of heart involvement and a higher incidence of bone, skin, retro-peritoneal, lung, aortic and renal infiltration. ECD pathophysiology, clinical features and diagnostic are presented in this paper.

Keywords:

Erdheim-Chester disease


Sources

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

2. 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.

3. Blombery P, Wong SQ, Lade S, et al. Erdheim-Chester disease harboring the BRAF V600E mutation. J Clin Oncol. 2012;30:e331–332.

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

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

6. Emile J-F, Abla O, Fraitag S, et al. Revised classification of histiocytoses and neoplasms of the macrophage-dendritic cell lineages. Blood. 2016;127:2672–2681.

7. Diamond E, Dogna L, Hyman DM, et al. Consensus guidelines for diagnosis and clinical management of Erdheim Chester disease. Blood. 2014;124:483–492.

8. Papo M, Emile JE, Maciel TT, et al. Erdheim-Chester disease: a concise review. Current Rheumatol Rep. 2019;21–66.

9. Cohen-Aubart F, Emile J-F, Carrat F, et al. Phenotypes and survival in Erdheim-Chester disease: Results from a 165-patient cohort. Am J Hematol. 2018;93:e114–117.

10. Estrada-Veras JI, O’Brien KJ, Boyd LC, et al. The clinical spectrum of Erdheim-Chester disease: an observational cohort study. Blood Adv. 2017;1:357–366.

11. Haroche J, Amoura Z, Wechsler B, et al. Erdheim-Chester disease. Presse Med. 2007;36:1663–1668.

12. 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.

13. Dagna L, Girlanda S, Langheim S, et al. Erdheim-Chester disease: report on a  case and new insights in its immunopathogenesis. Rheumatology (Oxford). 2010;49:1203–1206.

14. Pacini G, Cavalli G, Tomelleri A, et al. The fibrogenic chemokine CCL18 is associated with disease severity in Erdheim-Chester disease. Oncoimmunology. 2018;7: e1440929.

15. 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.

16. Michaloglou C, Vredeveld LCW, Soengas MS, et al. BRAFE600- associated senescence-like cell cycle arrest of human naevi. Nature. 2005;436:720–724.

17. Kriegl L, Neumann J, Vieth M, et al. Up and downregulation of p16(Ink4a) expression in BRAF-mutated polyps/adenomas indicates a  senescence barrier in the serrated route to colon cancer. Mod Pathol. 2011;24:1015–1022.

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;74:1596–1602.

19. Badalian-Very G, Vergilio J-A, Degar BA, et al. Recurrent BRAF mutations in Langerhans cell histiocytosis. Blood. 2010;116:1919–1923.

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

21. Durham BH, Lopez-Rodrigo E, Abramson DH, et al. Activating mutations in CSF1R and additional receptor tyrosine kinases in sporadic and familial histiocytic neoplasms. Blood. 2018;132:49–55.

22. Janku F, Vibat CR, Kosco K, et al. BRAF V600E mutations in urine and plasma cell-free DNA from patients with Erdheim–Chester disease. Oncotarget. 2014;11:3607–3610.

23. Aitken SJ, Presneau N, Tirabosco R, et al. An NRAS mutation in a  case of Erdheim Chester disease. Histopathology. 2016;66:316– 319.

24. Durham BH, Roos-Weil D, Baillou C, et al. Functional evidence for derivation of systemic histiocytic neoplasms from hematopoietic stem/progenitor cells. Blood. 2017;130:176–180.

25. Milne P, Bigley V, Bacon CM, et al. Hematopoietic origin of Langerhans cell histiocytosis and Erdheim-Chester disease in adults. Blood. 2017;130:167–175.

26. Papo M, Diamond EL, Cohen-Aubart F, et al. High prevalence of myeloid neoplasms in adults with non-Langerhans cell histiocytosis. Blood. 2017;130:1007–1013.

27. Haroche J, Poulain S, Marceau-Renaut A, et al. Clonal hematopoiesis in Erdheim-Chester Disease. Blood. 2017;130:3788–3779.

28. Cohen-Aubart F, Emile J-F, Carrat F, et al. Phenotypes and survival in Erdheim-Chester disease: Results from a 165-patient cohort. Am J Hematol. 2018;93:E114–117.

29. Arnaud L, Malek Z, Archambaud F, et al. 18F-fluorodeoxyglucosepositron 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.

30. 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.

31. Drier A, Haroche J, Savatovsky J, et al. Cerebral, facial, and orbital involvement in Erdheim-Chester disease: CT and MR imaging findings. Radiology. 2010;255:586–594.

32. 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;117:2778–2782.

33. Alper MG, Zimmerman LE, Piana FG. Orbital manifestations of Erdheim-Chester disease. Trans Am Ophthalmol Soc. 1983;81:64– 85.

34. Courtillot C, Laugier Robiolle S, et al. Endocrine manifestations in a monocentric cohort of 64 patients with Erdheim-Chester disease. J Clin Endocrinol Metab. 2016;101:305–313.

35. Cohen-Aubart F, Guerin M, Poupel L, et al. Hypoalphalipoproteinemia and BRAFV600E mutation are major predictors of aortic infiltration in the Erdheim-Chester disease. Arterioscler Thromb Vasc Biol. 2018;38:1913–1925.

36. 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: 371– 392.

37. Brun A-L, Touitou-Gottenberg D, Haroche J, et al. Erdheim- -Chester disease: CT findings of thoracic involvement. Eur Radiol. 2010;20:2579–2587.

38. 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.

39. Legendre P, Norkowski E, Le Pelletier F, et al. Glomeruloid haemangioma: a  possible consequence of elevated VEGF in POEMS and Erdheim-Chester disease. Eur J Dermatol. 2018;28:784–789.

40. Hervier B, Haroche J, Arnaud L, et al. Association of both Langerhans cell histiocytosis and Erdheim-Chester disease linked to the BRAFV600E mutation. Blood. 2014;124:1119–1126.

41. Razanamahery J, Diamond EL, Cohen-Aubart F, et al. ErdheimChester disease with concomitant Rosai-Dorfman like lesions: a distinct entity mainly driven by MAP2K1. Haematologica. 2020;105: e5–e8.

42. Diamond EL, Reiner AS, Buthorn JJ, et al. A  scale for patient-reported symptom assessment for patients with Erdheim-Chester disease. Blood Adv. 2019;3:934–938.

43. Mergancová J,  Kubes L, Elleder M. A xanthogranulomatous process encircling large blood vessels (Erdheim-Chester disease?). Czechoslovak Med. 1988;11(1):57–64.

44. Kinkor Z. Závažné plicní postižení u  Erdheim-Chesterovy nemoci (kazuistika). Česko-slov Patol Soud Lék. 2001;37:114–117.

45. Řehák Z, Koukalová R, Vašina J, et al. 18F-FDG PET/CT obraz Erdheimovy-Chesterovy nemoci – přehled českých pacientů. Nukleární medicína. 2018;7:50–56.

Labels
Haematology Internal medicine Clinical oncology

Article was published in

Transfusion and Haematology Today

Issue 3

2020 Issue 3

Most read in this issue
Topics Journals
Login
Forgotten password

Enter the email address that you registered with. We will send you instructions on how to set a new password.

Login

Don‘t have an account?  Create new account

#ADS_BOTTOM_SCRIPTS#