AUTOINFLAMMATORY DISEASES IN HEMATOLOGY FROM DIAGNOSIS TO TREATMENT

AUTOINFLAMMATORY_DISEASES_IN_HEMATOLOGY_FROM_DIAGNOSIS_TO_TREATMENTkapak

ROSAI DORFMAN DESTOMBES DISEASE

Bülent Karakaya

Zonguldak Atatürk State Hospital, Department of Hematology, Zonguldak, Türkiye

Karakaya B. Rosai Dorfman Destombes Disease. In: Kurt Yüksel M, editor. Autoinflammatory Diseases in Hematology from Diagnosis to Treatment. 1st ed. Ankara: Türkiye Klinikleri; 2025. p.175-183.

ABSTRACT

Rosai-Dorfman-Destombes disease (RDD) is defined by the excessive production of abnormal histiocytes and their accumulation in affected tissues. It is a non-Langerhans histiocytic disease. It has also been described as sinus histiocytosis with massive lymphadenopathy. It is a highly heterogeneous entity, classified under the R group of histiocytosis (without cutaneous) as revised in 2016. It was added as a new entity to Histiocyte/Macrophage neoplasms in the 5th edition of the World Health Organization (WHO) classification of hematolymphoid tumors. Over 90% of patients present with extensive, non-tender, movable, and bilateral cervical lymphadenopathy. Even though it is considered a benign condition, it can progress aggressively and lead to morbidity and mortality. Although underlying host immune dysregulation and MAPK/ERK pathway mutations have been implicated due to a triggering event like a viral infection, the etiopathogenesis of RDD has not been fully elucidated. Massive, prominent sinus enlargement and emperipolesis in the lymph nodes are characteristic histopathological features. It is important to distinguish it from Langerhans cell histiocytosis. The role of imaging methods in diagnosis is unclear. Preferably PET/CT should be used. Increased IgG4+ plasma cells (PC) are observed in affected tissues. In this respect, it requires distinction from IgG4-related diseases. Considering it can undergo spontaneous remissions, the initial treatment approach, including observation, should be customized mainly based on the clinical situation, disease progression, and previous treatment history. Targeted therapies show promising results.

Keywords: Histiocytosis; Sinus histiocytosis with massive lymphadenopathy; Rosai-Dorfman-Destombes; emperipolesis

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