201. Erdheim-Chester disease with Rosai-Dorfman-like lesions: treatment with methotrexate, anakinra and upadacitinib.
- Author
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Portegys J, Heidemeier A, Rosenwald A, Gernert M, Fröhlich M, Hueper S, Strunz PP, Rasche L, and Schmalzing M
- Subjects
- Humans, Interleukin 1 Receptor Antagonist Protein therapeutic use, Methotrexate therapeutic use, Erdheim-Chester Disease diagnosis, Erdheim-Chester Disease drug therapy, Erdheim-Chester Disease genetics, Histiocytosis, Sinus diagnosis, Histiocytosis, Sinus drug therapy, Histiocytosis, Sinus genetics, Arthritis
- Abstract
Erdheim-Chester disease (ECD) is a non-Langerhans cell histiocytosis characterised by clonal expansion of histiocytes in various organs. These induce an inflammatory environment, which leads to damage of the affected areas. Recently, a new disease entity was proposed encompassing key features of ECD but also of Rosai-Dorfman-Destombes disease, another histiocytosis. Mitogen-activated protein kinase kinase 1 ( MAP2K1) mutations seem to present a specific genetic lesion for this subtype.Here, we describe a case of this new disease entity with clinical, radiological and genetic findings compatible with ECD but histological findings compatible with Rosai-Dorfman-Destombes disease. In particular, there were intraabdominal and retroperitoneal lesions, which tested positive for a (c.167A>C; p.Q56P) mutation of the MAP2K1 gene. On histological examination, S100-positive, giant histiocytes with focal emperipolesis of haematological cells in addition to infiltration by lymphocytes and granulocytes were seen.As described for this rare variant of ECD, there was also bilateral testicular infiltration. We also describe a manifestation of oligoarthritis in this patient with ECD.The patient was treated with methotrexate and prednisolone. While radiological response to this regime was excellent, arthritis persisted. We added anakinra, which induced a response of the arthritis for more than a year. Due to treatment failure therapy was switched to upadacitinib, which induced a remission of the arthritis as well.This case adds a rare phenotype to an already rare presentation of ECD. The patient responded to immunosuppressive therapy., Competing Interests: Competing interests: JP received travel grants from AbbVie, EuroImmun, CSL-Behring, Galapagos and Janssen-Cilag. MG received travel grants, speaker’s fees or compensation for advisory boards from AbbVie, Eli Lilly, Hexal, Janssen-Cilag, Novartis, Pfizer and Takeda. AH has no competing interests to declare. AR has no competing interests to declare. SH received travel grants from Jannsen-Cilag. LR has no competing interests to declare. MS received compensation for his work as an advisor or consultant by Chugai/ Roche, Hexal/Sandoz, Gilead, AbbVie, Janssen-Cilag and Boehringer/Ingelheim, for his work as a lecturer by Novartis, AbbVie, AstraZeneca, Chugai/Roche and Janssen-Cilag and for his work relating to medical conventions by Chugai/Roche, Boehringer/Ingelheim, Celgene, Medac and UCB., (© Author(s) (or their employer(s)) 2023. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)
- Published
- 2023
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