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, 105 (2), 348-357

Clinicopathological Features, Treatment Approaches, and Outcomes in Rosai-Dorfman Disease

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Clinicopathological Features, Treatment Approaches, and Outcomes in Rosai-Dorfman Disease

Gaurav Goyal et al. Haematologica.

Abstract

Rosai-Dorfman disease is a rare subtype of non-Langerhans cell histiocytosis. With the last major report published in 1990, there is a paucity of contemporary data on this disease. Our objective was to report the clinicopathological features, treatments and outcomes of patients seen at a tertiary referral center. Sixty-four patients with histopathological diagnosis of Rosai-Dorfman disease were identified from 1994 to 2017 (median age 50 years; range, 2-79). The median duration from symptom onset to diagnosis was seven months (range, 0-128), which was also reflected in the number of biopsies required to establish the diagnosis (median 2; range, 1-6). The most common presentation was subcutaneous masses (40%). Of the 64 patients, 8% had classical (nodal only) and 92% had extra-nodal disease (67% extra-nodal only). The most common organs involved were skin and subcutaneous tissue (52%), followed by lymph nodes (33%). Three patients had an overlap with Erdheim-Chester disease, which had not been described before. Two of these were found to have MAP2K1 mutations. Commonly utilized first line treatments were surgical excision (38%) and systemic corticosteroids (27%). Corticosteroids led to a response in 56% of the cases. Of those treated initially, 15 (30%) patients developed recurrent disease. The most commonly used systemic agent was cladribine (n=6), with 67% overall response rate. Our study demonstrates that Rosai-Dorfman disease has diverse clinical manifestations and outcomes. While this disease has been historically considered a benign entity, a subset of patients endures an aggressive course necessitating the use of systemic therapies.

Figures

Figure 1.
Figure 1.
Clinical manifestations and organ involvement among patients with Rosai-Dorfman disease A) Presenting features and B) Organ involvement
Figure 2.
Figure 2.
Common imaging findings of Rosai-Dorfman disease on fluorodeoxyglucose (FDG) PET/CT. (A) Maximum intensity projection depicting several FDG avid subcutaneous, lymph node and osseous lesions. (B) Coronal fusion images demonstrate FDG avid paranasal sinus (square) and lymph node (circle) disease. (C) Axial fusion image shows an FDG avid subcutaneous soft tissue lesion. (D) Sagittal fusion images of the bilateral lower extremities demonstrate several FDG avid osseous lesions.
Figure 3.
Figure 3.
Cutaneous Rosai-Dorfman Disease (RDD). (A) Petechial rash and subcutaneous nodule. (B) Nodular lymphohistiocytic infiltrates in the dermis form a dome shaped lesion. (C) Within a background of small lymphocytes and neutrophils, RDD histiocytes show round nuclei, open chromatin, central nucleoli, and abundant pale cytoplasm containing engulfed lymphocytes (emperipolesis). These cells are S100+ by immunohistochemistry (inset). (D) Enhanced coronal MRI of the left shoulder depicting a large homogenously enhancing subcutaenous mass (oval). (E) Fused FDG PET/CT of the same patient demonstrating hypermetabolism of this mass (oval).
Figure 4.
Figure 4.
Rosai-Dorfman disease RDD) in lymph node. (A) The RDD infiltrate expands the sinuses of the lymph node. Characteristic RDD histiocytes show abundant cytoplasm with emperipolesis (inset). (B) The RDD histiocytes are highlighted by immunohistochemistry for S100, and (C) CD163. (D) Enhanced coronal thoracic CT depicting bilateral axillary lymphadenopathy (circle). (E) Fused FDG PET/CT of the same patient demonstrating hypermetabolism of bilateral cervical and axillary lymph nodes (circle).
Figure 5.
Figure 5.
A variety of less common Rosai-Dorfman disease imaging findings. (A) Coronal contrast enhanced head MRI depicting a homogenously enhancing extra-axial intracranial soft tissue mass. Note the lack of dural tail (arrow) characteristic of the more common and similar appearing meningioma. (B) Enhanced axial orbit CT showing large intraconal soft tissue masses (*) and associated exophthalmos. (C) Enhanced coronal CT of the neck showing a soft tissue lesion involving the left parotid (circle) along with soft tissue lesions encasing arteries of the neck (arrowheads). (D & E) Axial CT and FDG PET/CT images of the thorax demonstrating an FDG avid soft tissue lesion in the right atrioventricular groove (oval), encasing the right coronary artery (arrowhead). (F) Delayed enhanced axial CT of the abdomen depicting perinephric (bracket) and renal hilar (arrow) infiltrative soft tissue. (G) Cranial-caudal compression mammogram elucidating a palpable subareolar mass (circle). (H) Fused axial FDG PET/CT demonstrating a focal FDG avid biopsy proven hepatic lesion. (I) Enhanced reformated CT of the chest demonstrating a soft tissue lesion in the lower airway, overriding the carina (square). (J & K) Fused coronal FDG PET/CT and testicular ultrasound demonstrating a hypermetabolic (14.2 SUVmax) testicle (arrow) with multiple corresponding hypoechoic lesions on ultrasound (arrowheads) in a patient with RDD/ECD overlap.
Figure 6.
Figure 6.
Treatments and outcomes of patients with Rosai-Dorfman disease (RDD) from diagnosis until first response where available. 6MP: 6-mercaptopurine; CVP: cyclophosphamide, vincristine, prednisone; 2-CDA: cladribine; MTX: methotrexate

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