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Case Reports
. 2024 Dec 4;19(1):640.
doi: 10.1186/s13019-024-03147-2.

Extranodal Rosai-Dorfman disease masquerading as intrathoracic invasive malignancy with ankylosing spondylitis: a case report

Jun Xu #  1   2 , Tian Xia #  1   2 , Zhongcheng Li  1 , Jun Zhao  1   2 , Sheng Ju  3   4
Affiliations
Case Reports

Extranodal Rosai-Dorfman disease masquerading as intrathoracic invasive malignancy with ankylosing spondylitis: a case report

Jun Xu et al. J Cardiothorac Surg. .

Abstract

Introduction: Rosai-Dorfman Disease (RDD), also known as sinus histiocytosis with massive lymphadenopathy, is an uncommon histiocytic disorder. It may be associated with autoimmune diseases, but there are few reports of concurrent ankylosing spondylitis. RDD is typically characterized by massive bilateral and painless cervical lymphadenopathy, which can also involve extranodal sites and constitutional symptoms, but rarely affect the chest cavity.

Case presentation: In this report, we present a case of a patient with a suspicious invasive anterior mediastinal lesion affecting multiple blood vessels and adjacent tissues. The patient has a history of ankylosing spondylitis. Despite extensive radiological and interventional examinations, the possibility of malignancy could not be completely ruled out. Following surgical resection of the tumor, the final pathology diagnosis suggested RDD.

Conclusion: Our report emphasizes the importance of considering RDD in the differential diagnosis of invasive thoracic malignancies. Thoracoscopy or mediastinoscopy biopsy can improve diagnostic accuracy. Our study contributes to an improved understanding among clinicians regarding the diagnosis and treatment of intrathoracic RDD and provides relevant evidence for future exploration of potential associations between RDD and ankylosing spondylitis.

Keywords: Ankylosing spondylitis; Mediastinum; Rosai-Dorfman disease; Thymus.

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Conflict of interest statement

Declarations. Ethics approval and consent to participate: This project has been approved by the Ethics Committee of the First Affiliated Hospital of Soochow University, and has obtained written consent from the patient. Consent for publication: Written informed consent has been obtained from the patient and their family members for publication of relevant clinical information by the authors in pertinent medical publications. Competing interests: The authors declare no competing interests.

Figures

Fig. 1
Fig. 1
(A, B) Contrast-enhanced computed tomography showed a large mass visible in the anterior mediastinum, accompanied by uneven enhancement. (C, D) Positron emission tomography scan. 18 F- fluorodeoxyglucose (FDC) uptake on mediastinal mass
Fig. 2
Fig. 2
Midline thoracotomy performed for tumor resection with pericardial opening
Fig. 3
Fig. 3
(A, B) The morphological characteristics of the mass and its immunohistochemical features. Histologic examination 100×. Nodal Rosai-Dorfman disease shows marked fibrosis which may be storiform. (C) S100 protein immunohistochemical stain 100×. The S100 highlights the histiocytes as well as the emperipolesis. (D) CD68 protein immunohistochemical stain 100×. The CD68 highlights the histiocytes
See this image and copyright information in PMC

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