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Macrophage Biology & its Disorders
Ferrata Storti Foundation
Haematologica 2020 Volume 105(2):348-357
Clinicopathological features, treatment approaches, and outcomes in Rosai-Dorfman disease
Gaurav Goyal,1 Aishwarya Ravindran,2 Jason R. Young,3 Mithun V. Shah,1 N. Nora Bennani,1 Mrinal M. Patnaik,1 Grzegorz S. Nowakowski,1
Gita Thanarajasingam,1 Thomas M. Habermann,1 Robert Vassallo,4 Taimur Sher,5 Sameer A. Parikh,1 Karen L. Rech2 and Ronald S. Go1
on behalf of the Mayo Clinic Histiocytosis Working Group
1Division of Hematology, Mayo Clinic, Rochester, MN; 2Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN; 3Department of Radiology, Mayo Clinic, Rochester, MN; 4Division of Pulmonary Medicine, Mayo Clinic, Rochester, MN; 5Division of Hematology, Mayo Clinic, Jacksonville, FL, USA
ABSTRACT
Rosai-Dorfman disease is a rare subtype of non-Langerhans cell his- tiocytosis. 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 dura- tion 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 uti- lized first line treatments were surgical excision (38%) and systemic cor- ticosteroids (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.
Introduction
Rosai-Dorfman disease (RDD) is a rare non-Langerhans cell histiocytosis char- acterized histopathologically by the accumulation of CD68-positive, S100-posi- tive, and CD1a-negative histiocytes with frequent emperipolesis. RDD was first described in 1965 in four African children with lymphadenopathy by Destombes, and was called “adenitis with lipid excess”, owing to the lipid-laden histiocytes in the tissue specimen.1 In 1969, Rosai and Dorfman reported a separate series of four patients with massive cervical lymphadenopathy with specific histopathological features, and called it “sinus histiocytosis with massive lymphadenopathy”.2 Since the original description, further reports, including a summary of 423 cases from an international registry in 1990, described both nodal and extranodal manifestations of the disease.3
In the last decade, the understanding of the biology of related histiocytic disor- ders such as Erdheim-Chester disease (ECD) and Langerhans cell histiocytosis
Correspondence:
RONALD S. GO
go.ronald@mayo.edu
GAURAV GOYAL
goyal.Gaurav@mayo.edu/ggoyal@uabmc.edu
Received: February 14, 2019. Accepted: April 18, 2019. Pre-published: April 19, 2019.
doi:10.3324/haematol.2019.219626
Check the online version for the most updated information on this article, online supplements, and information on authorship & disclosures: www.haematologica.org/content/105/2/348
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