Cladribine chemotherapy of multifocal, multisystemic form of Rosai–Dorfman disease: literature review and case report

Rosai–Dorfman disease is the most frequent variant of non-Langerhans cell histiocytosis. Local forms can be resected or irradiated. If the process involves multiple organs, systemic chemotherapy can cure some patients. This article includes literature review and a case report of a 34-year-old patient with multifocal, multisystemic form of Rosai–Dorfman disease with bone and pleural involvement. The diagnosis was based on histological, immunohistochemical, and molecular studies of tumor tissue. Since November 2021, 6 courses of chemotherapy with cladribine and 8 infusions of zolendronic acid were carried out with achievement of durable remission. The tolerance was acceptable.

1. Rosai J., Dorfman R.F. Sinus histiocytosis with massive lymphadenopathy. A newly recognized benign clinicopathological entity. Arch Pathol 1969;87(1):63–70.

2. Sathyanarayanan V., Issa A., Pinto R. Rosai–Dorfman disease: the MD Anderson Cancer Center experience. Clin Lymphoma Myeloma Leuk 2019;19(11):709–14. DOI: 10.1016/j.clml.2019.06.013

3. Emile J.F., Abla O., Fraitag S. et al. Revised classification of histiocytoses and neoplasms of the macrophage-dendritic cell lineages. Blood 2016;127(22):2672–81. DOI: 10.1182/blood-2016-01-690636

4. Foucar E., Rosai J., Dorfman R. Sinus histiocytosis with massive lymphadenopathy (Rosai–Dorfman disease): review of the entity. Semin Diagn Pathol 1990;7(1):19–73.

5. Dolzhanskiy O.V., Paltseva E.M., Morozova M.M. et al. Solitary epithelioid hemangioendothelioma in combination with nodular parenchymal amyloidosis of the lung and Rosai–Dorfman’s disease. Arkhiv patologii = Archive of Pathology 2018;80(2):52–9. (In Russ.).

6. Jordan M.B., Hult A., Filipovich A. Histiocytic Disorders. In: Hematology: Basic Principles and Practice. Elsevier Inc, 2018.

7. Medeiros L.J., Miranda R.N. Diagnostic pathology: lymph nodes and extranodal lymphomas. 2nd edn. Print Book & E-Book, 2017.

8. Diamond E.L., Dagna L., Hyman D.M. et al. Consensus guidelines for the diagnosis and clinical management of Erdheim–Chester disease. Blood 2014;124(4):483–92. DOI: 10.1182/blood-2014-03-561381

9. Kovrigina A.M. Morphological characteristics of reactive changes in lymph nodes. Klinicheskaya onkogematologiya. Fundamental’nyye issledovaniya i klinicheskaya praktika = Clinical Oncohematology. Fundamental Research and Clinical Practice 2009;2(4):297–305. (In Russ.).

10. Shvets O.A., Abramov D.S., Khoreva A.L. et al. Lymphadenopathy by the type of Rosai–Dorfman disease in a patient with Wiskott– Aldrich syndrome: diagnostic difficulties. Voprosy gematologii/ onkologii i immunopatologii v pediatrii = Pediatric Hematology/ Oncology and Immunopathology 2020;19(1):108–15. (In Russ.).

11. Sokolovskiy E.V., Mikheev G.N., Rybakova M.G. et al. Sinus histiocytosis of the skin of the face of the nonlangerganic type (cutaneous form of Rosai–Dorfman disease). Vestnik dermatologii i venerologii = Bulletin of Dermatology and Venereology 2018;94(5):66–71. (In Russ.).

12. Knösel T., Meisel H., Borgmann A. et al. Parvovirus B19 infection associated with unilateral cervical lymphadenopathy, apoptotic sinus histiocytosis, and prolonged fatigue. J Clin Pathol 2005;58(8): 872–5. DOI: 10.1136/jcp.2004.022756

13. Bakr F., Webber N., Fassihi H. et al. Primary and secondary intralymphatic histiocytosis. J Am Acad Dermatol 2014;70(5): 927–33. DOI: 10.1016/j.jaad.2013.11.024

14. Vaamonde R., Cabrera J.M., Vaamonde-Martin R.J. et al. Silicone granulomatous lymphadenopathy and siliconomas of the breast. Histol Histopathol 1997;12(4):1003–11.

15. Potapenko V.G., Leenman E.E., Potikhonova N.A. et al. Fever associated with hardware. Clinical observation. Zhurnal infektologii = Journal Infectology 2019;12(3):126–9. (In Russ.). DOI: 10.22625/2072-6732-2019-11-3-126-130

16. Lee L.H., Gasilina A., Roychoudhury J. et al. Real-time genomic profiling of histiocytoses identifies early-kinase domain BRAF alterations while improving treatment outcomes. JCI Insight 2017;2(3):e89473. DOI: 10.1172/jci.insight.89473

17. Garces S., Medeiros L.J., Patel K.P. et al. Mutually exclusive recurrent KRAS and MAP2K1 mutations in Rosai–Dorfman disease. Mod Pathol 2017;30(10):1367–77. DOI: 10.1038/modpathol.2017.55

18. Chen J., Zhao A.L., Duan M.H. et al. Diverse kinase alterations and myeloid-associated mutations in adult histiocytosis. Leukemia 2022;36(2):573–6. DOI: 10.1038/s41375-021-01439-3

19. Chang L., Qiao B., Cai H. et al. Clinical phenotypes, molecular analysis, and outcomes of patients with Rosai–Dorfman disease. Leukemia 2023;37(11):2297–300. DOI: 10.1038/s41375-023-02032-6

20. Latyshev V.D., Lukina E.A. Langerhans cell histiocytosis in adults: modern possibilities of therapy. Klinicheskaya onkogematologiya = Clinical Oncohematology 2021;14(4):444–54. (In Russ.). DOI: 10.21320/2500-2139-2021-14-4-444-45

21. Al-Khateeb T.H. Cutaneous Rosai–Dorfman disease of the face: a comprehensive literature review and case report. J Oral Maxillofac Surg 2016;74(3):528–40. DOI: 10.1016/j.joms.2015.09.017

22. Sandoval-Sus J.D., Sandoval-Leon A.C., Chapman J.R. et al. Rosai–Dorfman disease of the central nervous system: report of 6 cases and review of the literature. Medicine (Baltimore) 2014;93(3):165–75. DOI: 10.1097/MD.0000000000000030

23. Nalini A., Jitender S., Anantaram G. et al. Rosai–Dorfman disease: case with extensive dural involvement and cerebrospinal fluid pleocytosis. J Neurol Sci 2012;314(1–2):152–4. DOI: 10.1016/j.jns.2011.10.002

24. Abla O., Jacobsen E., Picarsic J. et al. Consensus recommendations for the diagnosis and clinical management of Rosai–Dorfman– Destombes disease. Blood 2018;131(26):2877–90. DOI: 10.1182/blood-2018-03-839753

25. Chen H.H., Zhou S.H., Wang S.Q. et al. Factors associated with recurrence and therapeutic strategies for sinonasal Rosai– Dorfman disease. Head Neck 2011;34(10):1504–13. DOI: 10.1002/hed.21832

26. Potekayev N.N., L’vov A.N., Bobko S.I. et al. Cutaneous form of Rosai–Dorfman disease. Klinicheskaya dermatologiya i venerologiya = Russian Journal of Clinical Dermatology and Venereology 2017;16(1):30–9. (In Russ.). DOI: 10.17116/klinderma201716130-38

27. Abeykoon J.P., Rech K.L., Young J.R. et al. Outcomes after treatment with cobimetinib in patients with Rosai–Dorfman disease based on KRAS and MEK alteration status. JAMA Oncol 2022;8(12):1816–20. DOI: 10.1001/jamaoncol.2022.4432

28. Potapenko V.G., Baykov V.V., Zinchenko A.V., Potikhonova N.A. Langerhans cell histiocytosis in adults: literature review. Onkogematologiya = Oncohematology 2022;17(4):16–32. (In Russ.). DOI: 10.17650/1818-8346-2022-17-4-16-32

29. Potapenko V.G., Baykov V.V., Markova А.Yu. et al. Kikuchi– Fujimoto disease: literature review and report of four cases. Onkogematologiya = Oncohematology 2022;17(4):48–59. (In Russ.). DOI: 10.17650/1818-8346-2022-17-4-48-59

30. Kemps P.G., Picarsic J., Durham B.H. et al. ALK+ histiocytosis: a new clinicopathologic spectrum highlighting neurologic involvement and responses to ALK inhibition. Blood 2022;139(2):256–80. DOI: 10.1182/blood.2021013338.

31. Potapenko V.G., Baykov V.V., Gorbunova A.V. et al. Determination of therapeutic targets in patients with malignant histiocytosis using molecular diagnostic methods. Vestnik gematologii = Bulletin of Hematology 2021;17(2):71. (In Russ.).

32. Potapenko V.G., Krivolapov Yu.A., Leenman E.E. et al. Surgical treatment of histiocytic tumor of unknown malignant potential. Clinical observation. Kletochnaya terapiya i transplantatsiya = Cellular Therapy and Transplantation 2021;10(3):46–8. (In Russ.).

33. Potapenko V.G., Klimovich A.V., Evseev D.A. et al. Malignant histiocytosis in adults. Gematologiya i transfuziologiya = Russian Journal of Hematology and Transfusiology 2022;67(2):281–2. (In Russ.).

34. Potapenko V.G., Baykov V., Orlov S. et al. Crizotinib in treatment of atypical ALK-rearranged histiocyte tumor. Case report. Pediatric Blood Cancer. NJ USA: WILEY, 2023. 38 p.

35. Papo M., Haroche J., Da Silva M. et al. High prevalence of vulvar and hepatic manifestations in a series of 18 histiocytosis with brafdel mutations. Blood 2023;142(Suppl1):6392. DOI: 10.1182/blood-2023-174667

36. Hélias-Rodzewicz Z., Donadieu J., Terrones N. et al. Molecular and clinicopathologic characterization of pediatric histiocytoses. Am J Hematol 2023;98(7):1058–69. DOI: 10.1002/ajh.26938

37. Demicco E.G., Rosenberg A.E., Björnsson J. et al. Primary Rosai– Dorfman disease of bone: a clinicopathologic study of 15 cases. Am J Surg Pathol 2010;34(9):1324–33. DOI: 10.1097/PAS.0b013e3181ea50b2

38. Carrera C.J., Terai C., Lotz M. et al. Potent toxicity of 2-chlorodeoxyadenosine toward human monocytes in vitro and in vivo. A novel approach to immunosuppressive therapy. J Clin Invest 1990;86(5):1480–8. DOI: 10.1172/JCI114865

39. Aouba A., Terrier B., Vasiliu V. et al. Dramatic clinical efficacy of cladribine in Rosai–Dorfman disease and evolution of the cytokine profile: towards a new therapeutic approach. Haematologica 2006;91(12):ECR52.

40. Sasaki K., Pemmaraju N., Westin J.R. et al. A single case of Rosai– Dorfman disease marked by pathologic fractures, kidney failure, and liver cirrhosis treated with single-agent cladribine. Front Oncol 2014;4:297. DOI: 10.3389/fonc.2014.00297

41. Goyal G., Ravindran A., Young J.R. et al. Clinicopathological features, treatment approaches, and outcomes in Rosai–Dorfman disease. Haematologica 2020;105(2):348–57. DOI: 10.3324/haematol.2019.219626

42. Da Costa C.E., Annels N.E., Faaij C.M. et al. Presence of osteoclast-like multinucleated giant cells in the bone and nonostotic lesions of Langerhans cell histiocytosis. J Exp Med 2005;201(5):687–93. DOI: 10.1084/jem.20041785

43. Chellapandian D., Makras P., Kaltsas G. et al. Bisphosphonates in Langerhans Cell Histiocytosis: An International Retrospective Case Series. Mediterr J Hematol Infect Dis 2016;8(1):e2016033. DOI: 10.4084/MJHID.2016.033

44. Goyal G., Young J.R., Koster M.J. et al. The Mayo Clinic Histiocytosis Working Group consensus statement for the diagnosis and evaluation of adult patients with histiocytic neoplasms: Erdheim–Chester disease, Langerhans cell histiocytosis, and Rosai–Dorfman disease. Mayo Clin Proc 2019;94(10):2054–71. DOI: 10.1016/j.mayocp.2019.02.023

45. Liao F., Luo Z., Huang Z. et al. Application of 18F-FDG PET/CT in Langerhans cell histiocytosis. Contrast Media Mol Imaging 2022;2022:8385332. DOI: 10.1155/2022/8385332

46. Lu X., Wang R., Zhu Z. The value of 18F-FDG PET/CT in the systemic evaluation of patients with Rosai–Dorfman disease: a retrospective study and literature review. Orphanet J Rare Dis 2023;18(1):116. DOI: 10.1186/s13023-023-02711-8

47. Mahajan S., Nakajima R., Yabe M. et al. Rosai–Dorfman disease-utility of 18F-FDG PET/CT for initial evaluation and follow-up. Clin Nucl Med 2020;45(6):e260–6. DOI: 10.1097/RLU.0000000000003014

48. Zhang J., Cui R., Li J. et al. Characterizing Rosai–Dorfman disease with [18F]FDG PET/CT: a retrospective analysis of a single-center study. Eur Radiol 2023;33(9):6492–501. DOI: 10.1007/s00330-023-09561-9