Advertisement

Histiocytoses

  • Augusto Vaglio
  • Rossana Rocco
  • Julien Haroche
  • Jean-François Emile
Chapter

Abstract

Histiocytoses are rare, often systemic diseases hallmarked by tissue infiltration by abnormal histiocytes bearing peculiar morphological and immunohistochemical characteristics. They are classified based on cell type (e.g. Langerhans cell histiocytosis (LCH) and non-Langerhans forms such as Erdheim-Chester disease (ECD)), preferential organ involvement (e.g. cutaneous forms) and clinical aggressiveness (e.g. malignant histiocytoses). Some histiocytoses are clearly clonal disorders, often driven by somatic mutations of proto-oncogenes, whereas others can be reactive to or associated with systemic immune-mediated or infectious diseases. This chapter will mainly focus on primary systemic histiocytoses such as LCH and ECD and will discuss the role of infections in these complex diseases.

Keywords

Histiocytosis Erdheim-Chester BRAF Langerhans 

Abbreviations

CNS

Central nervous system

CTLs

Cytotoxic T cells

ECD

Erdheim-Chester disease

HHV6

Human herpesvirus 6

HIV

Human immunodeficiency virus

HLH

Haemophagocytic lymphohistiocytosis

IFN-y

Interferon-y

IFNα

Interferon-α

IL-12

Interleukin-12

LCH

Langerhans cell histiocytosis

MRI

Magnetic resonance imaging

mTOR

Mammalian target of rapamycin

NK

Natural killer

PET

Positron emission tomography

RDD

Rosai-Dorfman disease

Th1

T-helper 1

References

  1. 1.
    Haroche J, Cohen-Aubart F, Rollins BJ, et al. Histiocytoses: emerging neoplasia behind inflammation. Lancet Oncol. 2017;18:e113–25.CrossRefPubMedGoogle Scholar
  2. 2.
    Hervier B, Haroche J, Arnaud L, et al. Association of both Langerhans cell histiocytosis and Erdheim-Chester disease linked to the BRAF V600E mutation. Blood. 2014;124:1119–26.CrossRefPubMedGoogle Scholar
  3. 3.
    Emile JF, Abla O, Fraitag S, et al. Revised classification of histiocytoses and neoplasms of the macrophage-dendritic cell lineages. Blood. 2016;127:2672–81.CrossRefPubMedPubMedCentralGoogle Scholar
  4. 4.
    Allen CE, Li L, Peters TL, et al. Cell-specific gene expression in Langerhans cell histiocytosis reveals a distinct profile compared with epidermal Langerhans cells. J Immunol. 2010;184:4557–67.CrossRefPubMedPubMedCentralGoogle Scholar
  5. 5.
    Berres ML, Lim KP, Peters T, et al. BRAF V600E expression in precursor versus differentiated dendritic cells defines clinically distinct LCH risk groups. J Exp Med. 2014;211:669–83.CrossRefPubMedPubMedCentralGoogle Scholar
  6. 6.
    Brown NA, Furtado LV, Betz BL, et al. High prevalence of somatic MAP 2K1 mutations in BRAF V600E negative Langerhans cell histiocytosis. Blood. 2014;124:1655–8.CrossRefPubMedGoogle Scholar
  7. 7.
    Guyot-Goubin A, Donadieu J, Barkaoui M, et al. Descriptive epidemiology of childhood Langerhans cell histiocytosis in France, 2000-2004. Pediatr Blood Cancer. 2008;51:76–81.CrossRefGoogle Scholar
  8. 8.
    Héritier S, Emile JF, Barkaoui MA, et al. BRAF mutation correlates with high-risk Langerhans cell histiocytosis and increased resistance to first-line therapy. J Clin Oncol. 2016;34:3023–30.CrossRefPubMedPubMedCentralGoogle Scholar
  9. 9.
    Donadieu J, Rolon MA, Thomas C, et al. Endocrine involvement in pediatric-onset Langerhans’ cell histiocytosis: a population-based study. J Pediatr. 2004;144:344–50.CrossRefPubMedGoogle Scholar
  10. 10.
    Diamond E, Dagna L, Hyman DM, et al. Consensus guidelines for the diagnosis and clinical management of Erdheim-Chester disease. Blood. 2014;124:483–92.CrossRefPubMedPubMedCentralGoogle Scholar
  11. 11.
    Arnaud L, Gorochov G, Charlotte F, et al. Systemic perturbation of cytokine and chemokine network in Erdheim-Chester disease: a single center series of 37 patients. Blood. 2011;117:2783–90.CrossRefPubMedGoogle Scholar
  12. 12.
    Diamond E, Durham BH, Haroche J, et al. Diverse and targetable kinase alterations drive histiocytic neoplasms. Cancer Discov. 2016;6:154–65.CrossRefPubMedGoogle Scholar
  13. 13.
    Gianfreda D, Nicastro M, Galetti M, et al. Sirolimus plus prednisone for Erdheim-Chester disease: an open-label trial. Blood. 2015;126:1163–71.CrossRefPubMedGoogle Scholar
  14. 14.
    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;33:411–8.CrossRefPubMedGoogle Scholar
  15. 15.
    Gianfreda D, Palumbo AA, Rossi E, et al. Cardiac involvement in Erdheim-Chester disease: an MRI study. Blood. 2016;128:2468–71.CrossRefPubMedGoogle Scholar
  16. 16.
    Diamond EL, Hatzoglou V, Patel S, et al. Diffuse reduction of cerebral grey matter volumes in Erdheim-Chester disease. Orphanet J Rare Dis. 2016;11:109.CrossRefPubMedPubMedCentralGoogle Scholar
  17. 17.
    Veyssier-Belot C, Cacoub P, Caparros-Lefebvre D, et al. Erdheim-Chester disease. Clinical and radiologic characteristics of 59 cases. Medicine (Baltimore). 1996;75:157–69.CrossRefGoogle Scholar
  18. 18.
    Hervier B, Arnaud L, Charlotte F, et al. Treatment of Erdheim-Chester disease with long-term high-dose interferon-α. Semin Arthritis Rheum. 2012;41:907–13.CrossRefPubMedGoogle Scholar
  19. 19.
    Cohen-Aubart F, Maksud P, Saadoun D, et al. Variability in the efficacy of the interleukin-1 receptor inhibitor anakinra for treating Erdheim-Chester disease. Blood. 2016;127:1509–12.CrossRefPubMedGoogle Scholar
  20. 20.
    Cohen-Aubart F, Emile JF, Maksud P, et al. Efficacy of the MEK inhibitor cobimetinib for wild-type BRAF Erdheim-Chester disease. Br J Haematol. 2016;180(1):150–3.CrossRefPubMedGoogle Scholar
  21. 21.
    Rosai J, Dorfman RF. Sinus histiocytosis with massive lymphadenopathy. A newly recognized benign clinicopathological entity. Arch Pathol. 1969;87:63–70.PubMedGoogle Scholar
  22. 22.
    Maric I, Pittaluga S, Dale JK, et al. Histologic features of sinus histiocytosis with massive lymphadenopathy in patients with autoimmune lymphoproliferative syndrome. Am J Surg Pathol. 2005;29:903–11.CrossRefPubMedGoogle Scholar
  23. 23.
    Morgan NV, Morris MR, Cangul H, et al. Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease. PLoS Genet. 2010;6:e1000833.CrossRefPubMedPubMedCentralGoogle Scholar
  24. 24.
    Dalia S, Sagatys E, Sokol L, et al. Rosai-Dorfman disease: tumor biology, clinical features, pathology and treatment. Cancer Control. 2014;21:322–7.CrossRefPubMedGoogle Scholar
  25. 25.
    Komp DM, McNamara J, Buckley P. Elevated soluble interleukin-2 receptor in childhood hemophagocytic histiocytic syndromes. Blood. 1989;73:2128–32.PubMedGoogle Scholar
  26. 26.
    Henter JI, Horne A, Aricò M, et al. HLH-2004: diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer. 2007;48:124–31.CrossRefPubMedGoogle Scholar
  27. 27.
    Parikh SA, Kapoor P, Letendre L, et al. Prognostic factors and outcomes of adults with hemophagocytic lymphohistiocytosis. Mayo Clin Proc. 2014;89:484–92.CrossRefPubMedGoogle Scholar
  28. 28.
    Luppi M, Barozzi P, Garber R, et al. Expression of human herpesvirus-6 antigens in benign and malignant lymphoproliferative diseases. Am J Pathol. 1998;15:815–23.CrossRefGoogle Scholar
  29. 29.
    Mehraein Y, Wagner M, Remberger K, et al. Parvovirus B19 detected in Rosai-Dorfman disease in nodal and extranodal manifestations. J Clin Pathol. 2006;59:1320–6.CrossRefPubMedPubMedCentralGoogle Scholar
  30. 30.
    Ip YT, Loo KT, Ting SH, et al. Rosai–Dorfman disease-like changes in mesenteric lymph nodes secondary to Salmonella infection. Histopathology. 2011;58:792–807.CrossRefGoogle Scholar
  31. 31.
    Brito-Zerón P, Bosch X, Pérez-de-Lis M, et al. Infection is the major trigger of hemophagocytic syndrome in adult patients treated with biological therapies. Semin Arthritis Rheum. 2016;45:391–9.CrossRefPubMedGoogle Scholar

Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  • Augusto Vaglio
    • 1
  • Rossana Rocco
    • 1
  • Julien Haroche
    • 2
    • 3
  • Jean-François Emile
    • 4
  1. 1.Nephrology UnitUniversity HospitalParmaItaly
  2. 2.Department of Internal Medicine, French Reference Center for Rare Auto-immune and Systemic DiseasesInstitut E3M, AP-HP, Pitié-Salpêtrière HospitalParisFrance
  3. 3.Université Pierre et Marie Curie, University Paris 6ParisFrance
  4. 4.EA4340 and Pathology DepartmentVersailles University and Ambroise Paré HospitalBoulogneFrance

Personalised recommendations