Rosai-Dorfman Disease Displays a Unique Monocyte-Macrophage Phenotype Characterized by Expression of OCT2.

Rosai-Dorfman disease (RDD) is a rare histiocytosis with heterogenous clinical features. In this study, we characterized the histologic and phenotypic features in 33 RDD patients to better define the pathologic diagnosis. Cases included 24 patients with extracutaneous disease ("R" group), and 9 patients with lesions limited to the skin or subcutaneous tissue ("C" group). We identified OCT2 as a novel marker for the monocyte-macrophage phenotype of RDD, expressed in 97% of RDD cases. In contrast, OCT2 expression was seen in 0% of Erdheim-Chester disease cases and 6.7% of Langerhans cell histiocytosis cases. Other markers useful in the diagnosis of RDD included S100 (100%), CD163 (88%), and cyclin D1 (97%). In a subset of cases, RDD showed moderate to strong expression of factor 13a (30%), p16 (64%), and phosphorylated extracellular signal-regulated kinase (45%); RDD was uniformly negative for ZBTB46, CD1a, and langerin. Within the "R group" of RDD, increased expression of factor 13a or phosphorylated extracellular signal-regulated kinase showed a statistically significant association with multifocal disease (P<0.05). Identification of the unique monocyte-macrophage phenotype of RDD with OCT2 expression furthers our understanding of this complex disease and allows for more uniform classification.

Rosai-Dorfman disease: an overview.

CONTEXT: Rosai-Dorfman disease is an uncommon histiocytic disorder most frequently presenting as bilateral cervical lymphadenopathy in children and young adults. Extranodal disease occurs in a significant proportion of patients. It has been recently classified as part of the 'R group' of histiocytoses by the Histiocyte Society in 2016. Cutaneous Rosai-Dorfman disease is regarded as a separate disease entity that falls into the 'C group' of histiocytoses according to this classification system. The pathogenesis was previously poorly understood; however, recent evidence demonstrating clonality in a subset of cases raises the possibility of a neoplastic process. A possible association with IgG4-related disease remains controversial. OBJECTIVES: To provide a comprehensive review of Rosai-Dorfman disease, including nodal, extranodal and cutaneous forms, with a particular emphasis on new insights into the possible clonal nature of the disease; to discuss the recently revised classification of the histiocytoses by the Histiocyte Society; and to summarise the findings from the literature regarding the controversial association with IgG4-related disease. DATA SOURCES: This review is based on published peer-reviewed English literature. CONCLUSIONS: Classic Rosai-Dorfman disease, which may be sporadic or familial, is considered a separate entity from cutaneous disease, which is reflected in the revised classification of histiocytoses. An increase in IgG4-positive plasma cells may be seen in Rosai-Dorfman disease. This finding in isolation is of limited significance and should be interpreted with caution. Studies investigating the molecular profile of the disease show that in at least a subset of cases the disease is a clonal process. The classification of Rosai-Dorfman disease is therefore likely to change as our understanding of the aetiopathogenesis evolves.

Afectación tiroidea por enfermedad de Rosai-Dorfman / Thyroid involvement by Rosai-Dorfman disease

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Hematolymphoid lesions of the sinonasal tract.

Various hematolymphoid lesions involve the sinonasal tract, including aggressive B, T, and NK-cell neoplasms; myeloid sarcoma; low-grade lymphomas; indolent T-lymphoblastic proliferations; and Rosai-Dorfman disease. Differentiating aggressive lymphomas from non-hematopoietic neoplasms such as poorly differentiated squamous cell carcinoma, olfactory neuroblastoma, or sinonasal undifferentiated carcinoma may pose diagnostic challenges. In addition, the necrosis, vascular damage, and inflammatory infiltrates that are associated with some hematolymphoid disorders can result in misdiagnosis as infectious, autoimmune, or inflammatory conditions. Here, we review hematolymphoid disorders involving the sinonasal tract including their key clinical and histopathologic features.