Clinicopathological Characteristics and Cyclin D1 Immunohistochemical Expression in Extranodal Rosai-Dorfman Disease

Document Type

Conference Proceeding

Publication Date

3-1-2024

Publication Title

Lab Invest

Abstract

Background: Rosai-Dorfman disease (RDD) is a rare non-Langerhan cell histiocytosis which classically affects lymph nodes, especially cervical lymph nodes. Extranodal disease is seen in 40% cases. Histological diagnosis of RDD at extranodal sites is challenging and may be confused with an inflammatory process. Activating mutations in mitogen-activated protein kinase/extracellular signal-regulated kinase (MAPK/ERK) pathway have been detected in almost 50% cases. Cyclin D1, a key cell cycle regulator, constitutes a major downstream target of the MAPK/ERK pathway. Immunohistochemical expression of Cyclin D1 may be a useful adjunct for the diagnosis of RDD. Design: We retrieved and reviewed H&E and IHC slides of extranodal RDD cases diagnosed between 2013 and 2023 (n=25). Cyclin D1 IHC was performed on 23 cases. Nuclear staining in >1% lesional histiocytes was considered positive. Demographic data, morphologic features and IHC profile were recorded and follow-up data was obtained. Results: Age ranged from 21 - 80 (mean 46.4) years, with a female predominance (M: F=1:4). Mean age was 49.2 years for males and 45.5 years for females. Cutaneous involvement was seen in 6 cases, while remaining 17 cases involved deep soft tissue and mucosal sites. Head and neck (H&N) region soft tissue was involved in 13 cases (52%), whereas trunk and extremities were involved in 6 cases (24%). Within H&N, nose and paranasal sinuses were most frequently involved with nearly a fourth of all cases involving these sites. Cyclin D1 IHC was positive in 23/23 cases (100%) with all cases showing moderate to strong nuclear staining in more than 70% of lesional histiocytes. S100 was positive in 24/25 (96%) cases and CD68 expression was seen in 20/23 cases (87%). CD163 was positive in 5/5 (100%) cases, including all CD68-negative cases. No statistically significant correlation was seen between age, gender or anatomic site of involvement. Follow-up data were available for 14 patients. The patients with orbital and auditory canal involvement developed blindness and deafness respectively. One patient developed recurrence after 5 years. Remaining patients are doing well. Conclusions: Extranodal RDD is a rare disease affecting middle aged patients. A female predilection is noted in our series in contrast to male predominance in the literature. H&N is a common site in our series with nasal and paranasal sinuses being common locations. Immunoexpression of Cyclin D1 can be used as a sensitive marker for the diagnosis of challenging cases.

Volume

104

Issue

3

First Page

S889

Last Page

S891

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