Multiple Drug Regimen-Refractory Rosai–Dorfman–Destombes Disease Mimicking Relapsing Polychondritis Successfully Treated with Cobimetinib
  • Kima López-Aldabe
    Department of Internal Medicine, Hospital Universitari de Bellvitge, L’Hospitalet de Llobregat, Barcelona, Spain; Bellvitge Biomedical Research Institute (IDIBELL), L’Hospitalet de Llobregat, Barcelona, Spain
  • Francesc Escrihuela-Vidal
    Department of Internal Medicine, Hospital Universitari de Bellvitge, L’Hospitalet de Llobregat, Barcelona, Spain; Bellvitge Biomedical Research Institute (IDIBELL), L’Hospitalet de Llobregat, Barcelona, Spain
  • Manel Tuells-Morales
    Department of Internal Medicine, Hospital Universitari de Bellvitge, L’Hospitalet de Llobregat, Barcelona, Spain; Bellvitge Biomedical Research Institute (IDIBELL), L’Hospitalet de Llobregat, Barcelona, Spain
  • Clàudia Llobera-Ris
    Bellvitge Biomedical Research Institute (IDIBELL), L’Hospitalet de Llobregat, Barcelona, Spain; Department of Dermatology, Hospital Universitari de Bellvitge, L’Hospitalet de Llobregat, Barcelona, Spain
  • Andrea Bauer-Alonso
    Bellvitge Biomedical Research Institute (IDIBELL), L’Hospitalet de Llobregat, Barcelona, Spain; Department of Dermatology, Hospital Universitari de Bellvitge, L’Hospitalet de Llobregat, Barcelona, Spain
  • Montserrat Cortes-Romera
    Bellvitge Biomedical Research Institute (IDIBELL), L’Hospitalet de Llobregat, Barcelona, Spain; Department of Nuclear Medicine – PET/CT (IDI), Hospital Universitari de Bellvitge, L’Hospitalet de Llobregat, Barcelona, Spain
  • Laura Gràcia-Sànchez
    Bellvitge Biomedical Research Institute (IDIBELL), L’Hospitalet de Llobregat, Barcelona, Spain; Department of Nuclear Medicine – PET/CT (IDI), Hospital Universitari de Bellvitge, L’Hospitalet de Llobregat, Barcelona, Spain
  • Marian Tormo-Ratera
    Bellvitge Biomedical Research Institute (IDIBELL), L’Hospitalet de Llobregat, Barcelona, Spain; Department of Rheumatology, Hospital Universitari de Bellvitge, L’Hospitalet de Llobregat, Barcelona, Spain
  • Xavier Juanola Roura
    Bellvitge Biomedical Research Institute (IDIBELL), L’Hospitalet de Llobregat, Barcelona, Spain; Department of Rheumatology, Hospital Universitari de Bellvitge, L’Hospitalet de Llobregat, Barcelona, Spain
  • Rosa Maria Penin-Mosquera
    Bellvitge Biomedical Research Institute (IDIBELL), L’Hospitalet de Llobregat, Barcelona, Spain; Department of Pathology, Hospital Universitari de Bellvitge, L’Hospitalet de Llobregat, Barcelona, Spain
  • Xavier Corbella
    Department of Internal Medicine, Hospital Universitari de Bellvitge, L’Hospitalet de Llobregat, Barcelona, Spain; Bellvitge Biomedical Research Institute (IDIBELL), L’Hospitalet de Llobregat, Barcelona, Spain; School of Medicine, Universitat Internacional de Catalunya, Barcelona, Spain
  • Xavier Solanich
    Department of Internal Medicine, Hospital Universitari de Bellvitge, L’Hospitalet de Llobregat, Barcelona, Spain; Bellvitge Biomedical Research Institute (IDIBELL), L’Hospitalet de Llobregat, Barcelona, Spain

Keywords

Rosai–Dorfman–Destombes disease, Rosai–Dorfman disease, relapsing polychondritis, MAPK/ERK pathway, cobimetinib

Abstract

Rosai-Dorfman-Destombes disease (RDD) or sinus histiocytosis with massive lymphadenopathy is a rare non-Langerhans cell histiocytosis of unknown cause. The disease often manifests as bilateral painless cervical lymphadenopathy associated with systemic symptoms such as fever and weight loss. Extranodal disease is also frequent and can involve any organ, mostly skin, nasal cavity, bone, and retro-orbital tissue. Swelling of cartilaginous tissues such as ear helix or laryngeal structures may mimic the entity known as relapsing polychondritis. Although spontaneous remission is the most expected evolution, some cases require systemic treatment with prednisone, methotrexate or cytotoxic agents, with variable success rates. In this respect, since somatic variants in genes involved in the mitogen-activated protein kinase (MAPK) pathway have been observed to play a pathogenic role in RDD, the use of therapies targeting these pathogenic variants seems to be a reasonable strategy. Here we present a case of RDD with extensive extranodal involvement that showed a rapid and complete response to the MEK inhibitor cobimetinib

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References

  • 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):2877–2890.
  • Song E, Pincus L, Berger A, Butrymowicz A, Haemel A. Rosai–Dorfman as a clinical mimicker of relapsing polychondritis. JAAD Case Rep 2020;6(12):1221–1223.
  • Emile JF, Abla O, Fraitag S, et al. Revised classification of histiocytoses and neoplasms of the macrophage–dendritic cell lineages. Blood 2016;127(22):2672–2681.
  • Garces S, Medeiros LJ, Patel KP, et al. Mutually exclusive recurrent KRAS and MAP2K1 mutations in Rosai–Dorfman disease. Mod Pathol 2017;30(10):1367–1377.
  • Fatobene G, Haroche J, Hélias-Rodzwicz Z, et al. BRAF V600E mutation detected in a case of Rosai–Dorfman disease. Haematologica 2018;103(8):e377–e379.
  • Jacobsen E, Shanmugam V, Jagannathan J. Rosai–Dorfman disease with activating KRAS mutation – response to cobimetinib. N Engl J Med 2017;377(24):2398–2399.
  • ClinicalTrials.gov. Single-agent cobimetinib for adults with histiocytic disorders. https://clinicaltrials.gov/ct2/show/NCT02649972 (accessed 11 April 2021).
  • Moyon Q, Boussouar S, Maksud P, et al. Lung involvement in Destombes–Rosai–Dorfman disease: clinical and radiological features and response to the MEK inhibitor cobimetinib. Chest 2020;157(2):323–333.
  • Oo KKK, Pang YT, Thamboo TP. Bilateral cauliflower ear deformity: an unusual presentation of cutaneous Rosai–Dorfman disease. Plast Reconstr Surg 2004;113(3):967–969.
  • Hirt MB, Heskett J, Veerula V, Warren S, Avashia-Khemka N, Mark LA. Multifocal Rosai-Dorfman disease with involvement of the pinna. JAAD Case Rep 2017;3(3):233–235.
  • Lin SK, Guralnick MP, Cassarino DS. Elusive diagnosis of left ear nodules. Cutaneous Rosai–Dorfman disease (RDD). JAMA Dermatol 2014;150(1):81–82.
  • Tsang WY, Chan JK, Ho WK, Yu HC, Chow LT. Extranodal Rosai–Dorfman disease: an uncommon cause of persistent nodule in the ear. J Laryngol Otol 1992;106(3):249–251.
  • Gan L, Liu WD, Yu WT, Sun JF, Jiang YQ. A case of cutaneous Rosai–Dorfman disease presenting with auricular enlargement as the first manifestation. Indian J Dermatol Venereol Leprol 2019;85(5):518–522.
  • Bunick CG, Leffell D, Bosenberg M, Yahalom J, Choi JN. Cutaneous Rosai–Dorfman disease of the right ear responsive to radiotherapy. J Am Acad Dermatol 2012;67(5):e225–e226.
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    Published: 2022-02-04
    Issue: 2022: Vol 9 No 2 (view)


    How to cite:
    1.
    López-Aldabe K, Escrihuela-Vidal F, Tuells-Morales M, Llobera-Ris C, Bauer-Alonso A, Cortes-Romera M, Gràcia-Sànchez L, Tormo-Ratera M, Juanola Roura X, Penin-Mosquera RM, Corbella X, Solanich X. Multiple Drug Regimen-Refractory Rosai–Dorfman–Destombes Disease Mimicking Relapsing Polychondritis Successfully Treated with Cobimetinib . EJCRIM 2022;9 doi:10.12890/2022_003076.