Rosai-Dorfman Disease Research Articles

Unexpected Presentations of Histiocytic Disorders as Mass Lesions in the Central Nervous System and Spine

Abstract Introduction/Objective A number of neoplastic and non-neoplastic hematolymphoid lesions can involve the CNS and spine. The majority are lymphomas, but some are rare lesions that mimic primary neoplasms clinically, radiologically, and even pathologically. Here, we present our experience of such cases. Methods/Case Report Pathology archives were searched, and five cases representing different challenges were identified to review clinical, radiological, and pathologic features. Case 1. 31-year-old female presented with vision changes and hearing loss and numerous supratentorial extra-axial masses, suspicious for meningiomatosis. Extensive lymphoplasmacytic infiltrate was seen at Intraoperative consult (IOC). Final diagnosis was Rosai-Dorfman disease with features of IgG4 related disease. Case 2. 31-year-old female with Chronic myeloid leukemia (CML), which progressed to AML presented with a right frontal brain mass. IOC displayed atypical hematolymphoid infiltrate. Final diagnosis was myeloid sarcoma. Case 3. 29-year-old male presented with a T10 vertebral lesion. IOC showed hypercellular tissue with atypia and was deferred. Subsequently, histiocytic sarcoma was diagnosed. Case 4. 22-year- old male presented with a T3-T4 intradural, extramedullary mass radiologically thought to be a meningioma. No IOC was requested. Final diagnosis was juvenile xanthogranuloma. Case 5. 36-year-old male presented with a C7-T1 dura-based mass. IOC revealed granulomatous inflammation, eventually resulting in a diagnosis of non-necrotizing granulomatous inflammation, suggesting sarcoidosis. Results (if a Case Study enter NA) NA Conclusion These cases highlight the importance of incorporating all clinical and radiological findings into pathologic evaluation, while being alert for mimickers and pitfalls. Both practicing general surgical pathologists and neuropathologists should remain alert to such unexpected and unusual cases especially at the time of IOC and initiate appropriate work-up with expedited diagnostic protocols such as intraoperative cultures, flow cytometry, and cytogenetics, as the differential diagnosis is broad with inflammatory, infectious, and neoplastic possibilities, presenting a variety of challenges.

Optic neuritis in Rosai Dorfman disease.

A 55-year-old man while being evaluated for unexplained weight loss was found to have multiple metabolically active lymph nodes on positron emission tomography-computed tomography (PET-CT)scan, and biopsy from right axillary lymph node demonstrated multiple histiocytes with emperipolesis with S100 positivity, consistent with Rosai-Dorfman disease.

Diagnosis and management of Rosai–Dorfman disease of the breast: Case report and literature review

AbstractRosai–Dorfman disease (RDD) is a rare subtype of non–Langerhans cell histiocytosis. It is a benign disease with variable presentations, with breast involvement being an uncommon manifestation. In this paper, we present a case of breast RDD in a 59‐year‐old Chinese woman who presented with a painless, enlarging mass in her right breast, accompanied by skin changes and no palpable axillary lymph node. A mammogram and breast ultrasonography revealed a progressively enlarging lesion with a suspicious axillary lymph node, leading to an upgrade from Breast Imaging Reporting and Data System (BIRADS) score of 3 to 4A on interval imaging. Core biopsy of the breast mass and cytology of the right axillary lymph node confirmed extranodal RDD. After a 5‐year period of observation, excision was performed due to persistent symptoms. Local recurrence of RDD, with skin discolouration and thickening, was confirmed by skin biopsy 1 year and 9 months after the operation. To the best of our knowledge, this is the first reported case of breast RDD in Hong Kong.

Clinical Spectrum and Outcome of Kidney Involvement in Non-Langerhans Histiocytosis

ObjectiveTo describe the clinical features and treatment responses of Rosai-Dorfman disease (RDD) and Erdheim-Chester disease (ECD) with kidney involvement. MethodsWe retrospectively analyzed RDD and ECD patients with kidney involvement from 2005 to 2023, evaluating kidney function changes, CT, and metabolic responses. ResultsThe study included 4 RDD and 44 ECD patients, with median ages of 58 and 51 years. RDD patients lacked kidney symptoms, while 27.3% of ECD patients exhibited lower extremity edema. The median estimated glomerular filtration rate (eGFR) was 80.5 (63-125) in RDD and 100 (22-133) ml/min/1.73 m2 in ECD. All RDD patients had renal masses; 68.2% of ECD cases showed perirenal infiltration. Two RDD patients received steroids (one post-nephrectomy), and two received lenalidomide and dexamethasone. One RDD patient (25%) showed eGFR improvement, and three (75%) had CT and PET-CT responses. Of 34 ECD patients, 26 were treated with interferon-alpha (IFN-α), 5 with BRAF inhibitor, and 3 with cytarabine. The rates of eGFR improvement, CT response, and PET-CT response were 14.7%, 5.9%, and 52.9%. Median follow-up was 27.0 months for RDD and 53.0 months for ECD. The 5-year overall survival was 66.7% for RDD and 81.8% for ECD. The median progression-free survival was 18.3 months for RDD and 59.4 months for ECD. ConclusionWe detailed kidney involvement characteristics and treatment responses in RDD and ECD, highlighting the typical renal mass in RDD and perirenal soft tissue in ECD. ECD patients may experience irreversible kidney dysfunction, indicating the critical need for early diagnosis and timely treatment.

One case of Rosai-Dorfman disease misdiagnosed as facial inflammation.

Rosai-Dorfman disease (RDD) is a rare non-Langerhans cell histiocytosis. The etiology and pathogenesis of RDD have not been fully explained, and its occurrence is even rarer in the maxillofacial region. This paper reported a patient who was first misdiagnosed as facial inflammation caused by oral disease and finally diagnosed as RDD. Clinical features, diagnosis, treatment, and prognosis were discussed based on the literature. This work provides reference for future diagnosis and differentiation of RDD in cheek.

S2701 Third Time's the Charm? An Elusive Case of Pancreatic Rosai-Dorfman Disease

S2701 Third Time's the Charm? An Elusive Case of Pancreatic Rosai-Dorfman Disease

Cutaneous Rosai-Dorfman disease arising in a patient with psoriatic arthritis.

Cutaneous Rosai-Dorfman disease arising in a patient with psoriatic arthritis.

Orbital masses as a rare presentation of Rosai-Dorfman disease: Clinicopathologic characterization of five cases

Rosai-Dorfman disease (RDD) is a rare, non-Langerhans cell histiocytosis. Most cases present with marked, non-tender lymphadenopathy due to the proliferation of atypical histiocytes. A minority of cases involves extranodal sites and can present as bone lesions, skin rashes, pulmonary nodules, and rarely orbital masses. Orbital involvement in RDD is rare and may infrequently present as an isolated tumor mass without lymphadenopathy. This study aims to better characterize this uncommon presentation of this rare disease. Five cases of orbital RDD were identified from the last 18 years and the clinical characteristics of each case were compared with histopathological findings. Three men and two women ages 12–36 presented with complaints of eye swelling and/or vision changes. One patient had a history of neurofibromatosis type I and inflammatory pseudotumors while the other four had no signs of systemic disease or other sites of extranodal involvement at the time of presentation. Masses ranged in size from 1.0 cm to 3.5 cm and primarily involved the superior orbit. Resected lesions all displayed characteristic findings of admixed atypical histiocytes, lymphocytes, and plasma cells with a fibrotic background. Emperipolesis was seen in all cases. Immunostaining for S100 and CD68 was diffusely positive in the histiocyte population. Clinical follow-up was obtained for 4 of 5 patients: all four were disease-free at 1 to 15 years after resection. RDD should be considered in the differential for patients with orbital masses, even in the absence of lymphadenopathy or signs of systemic disease.

Clinicopathological characteristics of extranodal Rosai-Dorfman disease: A retrospective case series of 25 patients

Rosai-Dorfman disease (RDD) is a rare non-Langerhans cell histiocytosis, classically affecting the lymph nodes. Even rarer extranodal disease is diagnostically challenging due to overlapping histologic features with other entities and lack of a universally agreed set of biomarkers. Cyclin D1 immunohistochemistry (IHC) may serve as a useful adjunct in diagnosing extranodal RDD. We present a retrospective case series of patients diagnosed with extranodal RDD between January 2013 and December 2023. IHC staining for cyclin D1 was performed on archived tissue samples. Baseline IHC results for biomarkers supporting the RDD diagnosis were recorded along with patient demographic characteristics, clinical features, and disease outcomes. A total of 25 patients with extranodal RDD were included: 21 women (84 %) and 4 men (16 %). The mean age at diagnosis was 42.6 years. Cutaneous and deep tissue involvement was seen in 5 (20 %) and 20 (80 %) patients, respectively. 11 patients (44 %) had disease localized to the trunk and extremities, and 13 had disease in the head and neck region (52 %), of which 5 occurred in the nose and paranasal tissues. Available follow-up data showed most patients fully recovered (n = 11; 78.6 %). However, 1 patient had disease recurrence, 1 developed blindness, and 1 developed deafness. Cyclin D1 IHC was positive in all samples (100 %), consistent with previous studies. The clinicopathologic findings in this study highlight the spectrum of potential disease sites, possible morbid outcomes related to disease site, and the diagnostic utility of cyclin D1 IHC.

Rosai-Dorfman Disease Presented as Generalized Lymphadenopathy: A Case Report

Rosai-Dorfman Disease Presented as Generalized Lymphadenopathy: A Case Report

Intracranial Rosai Dorfman disease Ó? A rare differential diagnosis of multiple meningiomas: case report

Intracranial Rosai Dorfman disease Ó? A rare differential diagnosis of multiple meningiomas: case report

Spinal Rosai-Dorfman Disease with Isolated Severe Neuropathic Pain: A Case Report

Spinal Rosai-Dorfman Disease with Isolated Severe Neuropathic Pain: A Case Report

Rosai Dorfman Disease: A Rare Disease Case Report

Rosai Dorfman Disease (RDD) is a rare benign condition. It was first described by Rosai and Dorfman in the 1960s. The etiology, pathogenesis and true frequency of the disease remain unknown. The disease is characterized by the proliferation of histiocytes in the lymph nodes. Clinically, this enlargement of the lymph nodes must be distinguished from other infectious or malignant causes. Although it is often observed at early ages, in this study, a case of RDD detected in a 66-year-old male patient who came to the hematology outpatient clinic due to axillary swelling was presented. The patient is still being monitored without any symptoms,without treatment.

Assessment of Immunoreactivity Patterns in the Excised Cervical Lymph Nodes of Oral Squamous Cell Carcinoma

Introduction: Epidermoid carcinoma (oral squamous cell carcinoma [OSCC]) comprises approximately 80% of the malignancies of the oral cavity, which is also responsible for the morbidity and mortality due to the distant spread of the neoplastic cells. The regional draining lymph node has been considered an anatomic barrier to the systemic dissemination of malignant cells. It has been postulated that the microscopic architectural pattern of a regional lymph node (RLn) represents the immunologic reactivity in that node and the host response. Morphological assessment of the regional nodes aids in a better understanding of the immune response and its correlation with the stage of the tumour. Materials and Methods: A total of 51 head-and-neck dissection cases were assessed for immunomorphological patterns and the degree of tumour involvement in positive lymph nodes. 49 lymph nodes were in the early stage (TNM Stage l and ll) and 71 lymph nodes were in the advanced stage(TNM stage lll and lV). A total of 595 lymph nodes were histologically evaluated and were categorised into metastatic and non-metastatic nodes showing four different patterns: lymphocyte predominance (LP) pattern, germinal centre predominance (GCP) pattern, sinus histiocytosis (SH) pattern and lymphocyte-depleted pattern. Results: The most frequently encountered pattern of lymph nodes was of LP (436 nodes), followed by GCP (61 nodes), SH (36 nodes) and lymphocyte depleted (18 nodes), respectively. Out of 595, 120 nodes were positive for metastasis, indicating that as the stage advances, the GCP type predominates (the predominant immunomorphological pattern shifts from LP to GCP), facilitating metastasis. Conclusion: Immunomorphological changes in the RLns of OSCCs seem to be pivotal factors that serve as an important prognostic indicator. Whereas the cell-mediated immune response represented by LP and SH appears to resist the metastasis process, the humoral response reflected by GCP favours metastasis.

Extranodal Rosai-Dorfman Disease Presenting as a Rapidly Enlarging Limbal Mass

Extranodal Rosai-Dorfman Disease Presenting as a Rapidly Enlarging Limbal Mass

Circulating monocytes decrease significantly following disease-directed therapy and may reflect disease expansion in Langerhans Cell Histiocytosis.

We aimed to examine the association between relative monocytosis and the recurrence of pulmonary Langerhans Cell Histiocytosis. Clinical, laboratory, radiographic and treatment data for 86 patients with a histopathological diagnosis of Langerhans Cell Histiocytosis over a 20-year duration. Parameters such as biological sex, age at diagnosis, time to diagnosis, molecular diagnostic data and imaging were collected. Treatment responses were assessed predominantly through radiography, with RECIST 1.1 criteria applied to MRI or CT scans and PERCIST utilized for serial PET imaging. Investigators also assessed peripheral blood absolute monocyte count at various time points, including initial diagnosis and the most recently available value. While peripheral blood absolute monocyte count between the earliest assessed timepoint and latest value did not differ, the mean value on progression (0.94K/µL), however, was significantly higher than that following re-institution of therapy (0.31, p = 0.000794. Our observation of relative monocytosis on LCH disease progression may be related to an increase in circulating LCH on disease progression or from increased monocyte production for later differentiation into mature dendritic cells that participate in MHC Class 1 upregulation. This trend is especially evident in pulmonary LCH which is incited by tissue trauma and irritation by environmental factors. The phenomena observed in our study parallel other non-LCH cohorts, specifically in published findings from our own group in patients with Rosai Dorfman and Erdheim Chester Disease. To further elucidate the molecular underpinnings of LCH and explore the etiology of this monocyte trend, expanded integrated genomic-transcriptomic sequencing analyses to evaluate the molecular character of LCH and ultimately clarify the origin of this monocyte trend are in progress. These studies are poised to offer invaluable insight to the molecular mechanisms underlying LCH, specifically as they pertain to monocyte signaling and differentiation.

Intraventricular presentation of Rosai–Dorfman disease: a case report with review of literature

BackgroundRosai–Dorfman disease (RDD)/sinus lymphohistiocytosis is a rare benign lymphoproliferative disorder. Only 25% show extra-nodal manifestation, only 5% are seen involving the CNS, with intraventricular manifestation rarely reported. Our aim was to highlight important imaging features which would be useful in considering this entity as one of the differentials while encountering this rare entity.Case descriptionWe present a case of a 34-year-old female with complaints of headache, altered behavior and visual disturbances. MRI brain showed T2 hypointense lesion arising from the left choroid plexus with dense homogenous enhancement, with multiple additional extra-axial dural-based lesions and a small lesion involving right choroid plexus. Left parietal craniotomy was done, and the lesion was excised. Histopathology showed large foamy macrophages in eosinophilic background, with lymphophagocytosis (emperipolesis), confirming the diagnosis of Rosai–Dorfman disease.ConclusionsIntraventricular Rosai–Dorfman disease is a rare entity. Imaging features of T2 hypointense homogenously enhancing lesion with blooming on GRE, without features of calcification or hemorrhage, may be helpful in prompting adequate histopathologic evaluation.

Multimodality Imaging of a Rare Extranodal Rosai-Dorfman Disease Involving Great Vessels.

Multimodality Imaging of a Rare Extranodal Rosai-Dorfman Disease Involving Great Vessels.

Coalescing and satellite erythematous papules on the calves and thighs of a middle-aged man.

This case study describes a 52-year-old male diagnosed with cutaneous Rosai-Dorfman disease (RDD), presenting with unusual manifestations confined to the skin. We highlight the diversity and diagnostic challenges of RDD and discuss conventional and targeted treatments for RDD.

Infraglottic portion Rosai-Dorfman disease: a case report

Rosai Dorfman disease is a rare non Langerhans histiocytic disease with intranodal and/or extranodal manifestations, most commonly affecting cervical lymph nodes. There is no treatment guideline for this disease. This paper reports a case of infraglottic portion, which did not show typical symptoms, such as fever or lymphadenopathy, and was easily misdiagnosed as malignant tumor preoperatively. The patient underwent low-temperature plasma minimally invasive surgery combined with hormone therapy and achieved good clinical effect. By reviewing the literature, we can better understand the clinical manifestations, diagnosis and treatment of this rare disease.