• Rosai-Dorfman disease
• breast
• extranodal RDD
• pathological diagnosis
• surgical treatment

• National Natural Science Foundation of China
• Natural Science Foundation of Shandong Province

• computed X-ray tomography
• pathology
• pleura
• renal clear cell carcinoma
• rosai-dorfman disease

• Cyclin D1
• Extranodal
• MAPK/ERK pathway
• Rosai-Dorfman

• Humans
• Histiocytosis, Sinus/pathology
• Histiocytosis, Sinus/diagnosis
• Histiocytosis, Sinus/metabolism
• Male
• Female
• Adult
• Retrospective Studies
• Middle Aged
• Cyclin D1/metabolism
• Immunohistochemistry/methods
• Young Adult
• Aged
• Biomarkers/metabolism
• Biomarkers/analysis
• Adolescent

• Image-Guided Biopsy
• Immunohistochemistry
• Pancreatic Neoplasms
• Pathology, Surgical

• Humans
• Histiocytosis, Sinus/pathology
• Histiocytosis, Sinus/diagnosis
• Female
• Diagnosis, Differential
• Pancreatic Neoplasms/pathology
• Pancreatic Neoplasms/diagnosis
• Histiocytes/pathology
• Aged
• Pancreatic Diseases/pathology
• Pancreatic Diseases/diagnosis
• Pancreas/pathology
• Immunohistochemistry
• Biopsy, Fine-Needle

• cranial histiocytosis
• diagnostic imaging of bone lesions
• differential diagnosis in histiocytosis
• extranodal Rosai-Dorfman disease
• temporal bone surgery

• Rosai–Dorfman–Destombes disease
• central nervous system
• cutaneous
• hidradenitis suppurativa
• non-Langerhans cell histiocytosis
• pilonidal cyst
• pressure ulcer
• wound
• wound care
• wound dressing
• wound healing

• Adult
• Female
• Humans
• Diagnosis, Differential
• Histiocytosis, Sinus/diagnosis
• Histiocytosis, Sinus/pathology
• Pressure Ulcer/etiology
• Pressure Ulcer/diagnosis
• Pressure Ulcer/pathology

• Computed tomography
• Fat
• Mediastinal mass
• Rosai-Dorfman disease

• Humans
• Male
• Middle Aged
• Diagnosis, Differential
• Histiocytosis, Sinus/diagnosis
• Histiocytosis, Sinus/surgery
• Histiocytosis, Sinus/pathology
• Mediastinal Diseases/diagnosis
• Neoplasms
• Tomography, X-Ray Computed/methods

• IgG4
• Rosai-Dorfman disease
• S100
• histiocytosis

• Male
• Humans
• Middle Aged
• Histiocytosis, Sinus/diagnostic imaging
• Histiocytosis, Sinus/surgery
• Histiocytes/metabolism
• Histiocytes/pathology
• Emperipolesis
• Meningioma/pathology
• S100 Proteins/metabolism
• Diagnosis, Differential
• Meningeal Neoplasms/diagnostic imaging
• Meningeal Neoplasms/pathology

• Cervical lymph nodes
• Imaging
• Lymphadenopathy
• Neck infection
• Neck malignancy
• Pediatric
• Reactive nodes

• Adult
• Humans
• Child
• Diagnostic Imaging
• Lymphadenopathy/diagnostic imaging
• Radiologists

• Breast Imaging-Reporting and Data System (BI-RADS)
• Flow cytometry
• Immunohistochemistry
• Kappa/Lambda in situ hybridization
• Rosai-Dorfman disease

• Humans
• Histiocytosis, Sinus/diagnostic imaging
• S100 Proteins
• Breast/diagnostic imaging
• Breast/pathology
• Histiocytes/pathology
• Emperipolesis

• Adult
• Humans
• Male
• Musculoskeletal System
• Thoracic Vertebrae/diagnostic imaging

• Brachial plexus
• Rosai-Dorfman disease
• extranodal
• histiocytosis

• Head/pathology
• Histiocytosis, Sinus/diagnostic imaging
• Histiocytosis, Sinus/pathology
• Humans
• Magnetic Resonance Imaging/methods
• Retrospective Studies
• Tomography, X-Ray Computed/methods

• Abdomen
• Histiocytosis, Sinus/diagnosis
• Humans
• Pancreas/diagnostic imaging
• Pancreas/surgery

Erdheim-Chester disease (ECD) is a rare form of non-Langerhans cell histiocytosis characterized by infiltration of lipid-laden foamy macrophages within different tissues. Clinical manifestations of ECD are highly heterogeneous. Bone lesions are found in 80%-95% of patients, while extraosseous lesions usually involve the cardiovascular system, retroperitoneum, central nervous system (CNS), and skin. Pancreatic involvement in ECD has barely been reported.

A 29-year-old female initially presented with menoxenia, diabetes insipidus and diabetes mellitus. 18F-fluorodeoxyglucose positron emission tomography-computed tomography (18F-FDG-PET/CT) revealed hypermetabolic foci in the bilateral frontal lobe, saddle area, and pancreas. A 99mTc-MDP bone scrintigraphy scan revealed symmetrical increased uptake in distal femoral and proximal tibial metaphysis, which was confirmed to be osteosclerosis by high-resolution peripheral quantitative computed tomography. The patient underwent incomplete resection of the sellar mass. Histological examination of biopsies showed histiocytic aggregates, which were positive for S100 and negative for CD1a and CD207 on immunohistochemistry. Enhanced abdominal CT scan showed hypointense nodules within the body and tail of the pancreas. Endoscopic ultrasonography guided fine-needle aspiration (EUS-FNA) found no evidence of malignancy. She was diagnosed with ECD and treated with high-dose IFN-α. Repeated examinations at three-and eight-months post treatment revealed markedly reduction of both intracranial and pancreatic lesions.

ECD is a rare histiocytic neoplasm that can involve almost every organ, whereas pancreatic involvement has barely been reported to date. Here, we present the rare case of pancreatic lesions in ECD that responded well to interferon-α. We further reviewed reports of pancreatic involvement in histiocytic disorders and concluded the characteristics of such lesions to help diagnosis and treatment, in which these lesions mimicked pancreatic adenocarcinoma and caused unnecessary invasive surgeries.

• Case report
• Erdheim-Chester disease
• Histiocytosis
• Interferon
• Pancreas
• Treatment

Background and objectives: Rosai–Dorfman disease (RDD) is a type of histiocytosis that usually appears in young adults or children as bilateral cervical lymphadenopathy, but extranodal involvement in not uncommon. Although the pathogenesis is not entirely elucidated, recent studies showed a possible neoplastic process. Materials and methods: Our manuscript presents a rare case of Rosai–Dorfman disease of the breast, the management of this rare case, and a literature review. There are few cases reported of RDD of the breast (around 90 globally reported cases); the data is poor, and the management not yet standardized for these cases. The case reported here shows the importance of correct breast investigation, breast imaging, and ultrasound-guided biopsy that provided an accurate diagnosis and guided further management. Results: Although RDD of the breast was rarely presented as bilateral disease in other case reports, our case showed bilateral breast disease with the suspicion of breast cancer on imaging. Pathology and immunohistochemistry were of critical importance and showed a specific pattern for histiocytosis. A multidisciplinary approach was taken into consideration for these cases in order to establish the approach. Some patients underwent surgery, but watchful waiting and close follow-up were the preferred approach. Conclusions: RDD of the breast is a rare form of histiocytosis, with fewer than 100 globally published cases. Although the management of this disease is not established yet by guidelines, a follow-up approach should be enough for these patients, and surgery might be overtreatment. Mortality from RDD is very low due to comorbidities. A multidisciplinary team decision is important, and abstinence might significantly benefit these patients.

• Erdheim-Chester disease
• Haemophagocytic lymphohistiocytosis
• Juvenile xanthogranuloma
• Multicentric reticulohistiocytosis
• Musculoskeletal involvement
• Non-Langerhans cell histiocytoses
• Radiological appearances
• Rosai-Dorfman disease
• Xanthoma disseminatum

Rosai–Dorfman disease (RDD) is a rare histiocytic proliferation of unknown etiology commonly found in children and adolescents. The common manifestation of RDD is massive and painless bilateral cervical lymphadenopathy with extranodal disease. While extranodal involvement in RDD is common, the spleen is an infrequent site of disease.

We report a 10-mo-old female infant with RDD presenting multiple splenic masses without cervical lymphadenopathy. She had fever, and blood tests showed leukocytosis, anemia, and elevated erythrocyte sedimentation rate and C-reactive protein. Ultrasound, computed tomography, and magnetic resonance images demonstrated multiple splenic masses. Despite antibiotic therapy, her symptoms were not relived. She underwent diagnostic splenectomy and was discharged with recovery.

In pediatric patients with refractory infectious symptoms or hematological abnormalities, clinicians should suspect RDD, even in patients without significant lymphadenopathy.

• Rosai–Dorfman disease
• Sinus histiocytosis with massive lymphadenopathy
• Ultrasonography
• Computed tomography
• Magnetic resonance imaging
• Case report

Rosai-Dorfman disease (RDD) is a rare benign proliferative disease whose etiology is not clear and may be related to infection or unexplained immune dysfunction. The authors present a case of RDD with lung involvement in a 10-year-old patient.

A 10-year-old girl found that her left cervical lymph nodes were enlarged for more than 7 mo, and the largest range was about 6.5 cm × 5.9 cm × 8.1 cm. Cervical magnetic resonance imaging showed multiple masses in the left neck, with low signal intensity on T1-weighted images and high signal intensity on T2-weighted images. A malignant tumor, with a high possibility of lymph node metastasis, was initially considered. At the same time, lung computed tomography showed multiple nodules of different sizes scattered on both sides of the lung, with uniform internal density. Thus, a possible metastatic tumor was considered. Finally, RDD was diagnosed by pathology and immunohistochemistry. According to the antibiogram, clindamycin was administered for 2 wk, and prednisone acetate was administered for 7 wk. Nine months later, the ulcer in the left neck was better than before, but the imaging showed that the lesion was not controlled.

The diagnosis of RDD cannot be made by a single tool and its treatment is a long-term exploratory process. Follow-up is necessary.

• Rosai-Dorfman disease
• Cervical lymphadenopathy
• Neck mass
• Lung
• Case report

• Bone
• PET/CT
• Rosai Dorfman
• Subcutaneous tissue

• Histiocytic disorder
• Histiocytic proliferation
• Pancreatic pseudotumor
• Pancreatoduodenectomy
• Peripancreatic lymph nodes

• Aged
• Histiocytes
• Histiocytosis, Sinus/diagnosis
• Humans
• Lymph Nodes
• Magnetic Resonance Imaging
• Male
• Rare Diseases

• Rosai-Dorfman disease
• colon tumor
• pancreatic tumor

Rosai-Dorfman disease (RDD) is a rare lympho-histiocytic disorder of indeterminate etiology usually presenting with lymph node involvement, and infrequently with extra-nodal manifestations. The diagnosis of this condition is challenging due to the wide spectrum of disease manifestations.

To elucidate the radiologic features of this disease using multimodality imaging in histopathologically proven cases and to identify characteristic features that would enable its differentiation from its mimics.

We retrospectively evaluated imaging studies of 19 patients with histopathologically confirmed RDD presenting to our institute between January 2004 and March 2016. Imaging modalities included magnetic resonance imaging (MRI), computed tomography, FDG-positron emission tomography (PET) CT, mammography, and ultrasonography.

Lymphadenopathy was the most common imaging feature in our study, seen in 11 (57.8%) cases followed by sino-nasal involvement in 7 (36.8%) cases and intracranial masses in 5 (26.3%) cases. Bilateral homogeneously enhancing cervical lymphadenopathy with avidity on FDG-PET scans was the predominant abnormality on imaging. Sino-nasal involvement manifested as homogeneously enhancing soft-tissue masses occupying the paranasal sinuses. Intracranial disease manifested as sellar/suprasellar masses, dural-based lesions along the cerebral hemispheres and choroid plexus enlargement. Unusual disease manifestations included spinal, osseous, and breast lesions.

Due to the high likelihood of multifocal involvement, the recognition of RDD at one site necessitates screening of other sites for disease. Homogeneously enhancing, FDG-avid lymphadenopathy and sino-nasal masses in association with hypointense extra-nodal lesions on T2-weighted MRI are imaging features which could aid the diagnosis of RDD and facilitate its differentiation from pathologies that present in a similar manner.

• Rosai-Dorfman
• computed tomography
• lymphadenopathy
• magnetic resonance imaging
• paranasal sinuses

• Extranodal manifestations
• Non-Langerhans histiocytosis
• Pediatric
• Rosai Dorfman disease
• Sinus histiocytosis with massive lymphadenopathy

Rosai-Dorfman disease (RDD) is a rare medical condition with bilateral painless lymphadenopathy. We present the case of a young man diagnosed with a very unique presentation of Rosai-Dorfman disease.

A 40-year-old African-American man presented with a firm, non-tender, progressive chest and neck mass appeared three months ago. Imaging of the neck demonstrated an 8.6-cm anterior neck subcutaneous soft tissue mass extending into the anterior mediastinum through the sternum with erosive changes in the sternum and the lesion is abutting the right common carotid artery and innominate vein and surrounds the medial aspect of the clavicles bilaterally. Ultrasound (US)-guided biopsy showed marked polytypic-appearing plasma cell proliferation associated with relatively prominent histiocytes with hemophagocytosis/emperipolesis and focal neutrophils. There were S100+ histiocytes; however, findings were not typical for RDD. As that biopsy was not diagnostic, incisional biopsy with adequate sampling was performed. Surgical pathology demonstrated a very abnormal infiltrate with prominent histiocytes including areas with the features of extranodal RDD. BRAF V600E immunohistochemistry (IHC) was negative. Modified radical neck dissection, proximal sternal resection and superior mediastinal nodal dissection surgery was recommended. However, the patient refused the procedure.

Typical manifestations are lymphadenopathy with fever that our patient did not experience. Bone involvement happens in 5-10% of cases. There is not enough data about blood vessel invasion which make our case unique. Treatment plan is still controversial. Clinical monitoring is recommended if the symptoms are tolerable as regression has been reported in many cases (20-50%). Surgery is reserved for patients with vital organ involvement or extra-nodal disease.

• rosai dorfman disease
• sinus histiocytosis with massive lymphadenopathy

• Rosai-Dorfman disease
• breast
• cancer
• histiocytosis
• ultrasonography

• Breast/diagnostic imaging
• Breast/pathology
• Breast Diseases/diagnostic imaging
• Breast Diseases/pathology
• Female
• Fibrosis/diagnostic imaging
• Fibrosis/pathology
• Histiocytosis, Sinus/diagnostic imaging
• Histiocytosis, Sinus/pathology
• Humans
• Lymph Nodes/diagnostic imaging
• Lymph Nodes/pathology
• Middle Aged
• Ultrasonography, Mammary/methods

Rosai–Dorfman disease, also known as Sinus histiocytosis with massive lymphadenopathy, is a benign proliferative disorder of histiocytes. It typically affects lymph nodes; however, extranodal disease is being increasingly reported. The latter entity poses exceptional diagnostic challenge clinico-radiologically by forming mass lesions. Fine needle aspiration cytology (FNAC) is the investigation of choice to avoid unnecessary surgery as the majority are self-limiting.

The objective is to assess the utility of FNAC in the diagnosis of Rosai–Dorfman disease and to highlight the diagnostic difficulties.

The cytology features of 12 cases of Rosai–Dorfman disease were analyzed and correlated with histopathology and immunohistochemistry.

The present study included six nodal and six extranodal Rosai–Dorfman disease. The cytology smears showed a variable number of large histiocytes exhibiting characteristic emperipolesis. Ten cases diagnosed as Rosai–Dorfman disease on cytology were confirmed on histopathology. The presence of granulomas, atypical histiocytes, insignificant emperipolesis, and eosinophil infiltration were the challenges we faced.

FNAC, a simple and cost-effective method with its unique cytology features is the first line of investigation in the diagnosis of Rosai–Dorfman disease.

• Emperipolesis
• Rosai–Dorfman Disease
• Sinus Histiocytosis with massive lymphadenopathy
• eosinophils
• granulomas

• Algorithms
• Diagnostic Techniques and Procedures/standards
• Erdheim-Chester Disease/diagnosis
• Erdheim-Chester Disease/therapy
• Histiocytosis, Langerhans-Cell/diagnosis
• Histiocytosis, Langerhans-Cell/therapy
• Histiocytosis, Sinus/diagnosis
• Histiocytosis, Sinus/therapy
• Humans

• Craniocervical
• Foramen magnum
• Radiotherapy
• Rosai-Dorfman disease
• Surgical resection
• Vertebral artery

分析Rosai-Dorfman disease（RDD）的临床病理特征，利用全基因组外显子测序探讨RDD的发病机制。

回顾性分析第二军医大学附属长海医院、长征医院2010年1月至2018年7月收治的23例RDD患者临床病理资料，并对9例患者石蜡包埋组织标本进行了全基因组外显子测序。

23例RDD患者中位年龄47（10~79）岁，19例为结外型，3例为淋巴结型，1例为混合型。所有患者均接受了手术切除病灶，19例患者中位随访24（1~67）个月，均无复发。病理形态主要表现为淋巴结窦内或结外组织中组织细胞增生伴有噬淋巴细胞现象，免疫组化示组织细胞表达S100、CD68、CD163，不表达CD1a。全基因组外显子测序发现mTOR、KMT2D和NOTCH1基因突变。

mTOR、KMT2D和NOTCH1基因突变可能参与了RDD的发病机制，其临床意义仍需要进一步研究。

• Immunohistochemistry
• Sinus histiocytosis
• Whole exome sequencing

• Extra nodal
• Gnathic
• Histiocytes
• Jawbones
• Lymphadenopathy
• Nasal
• Paranasal sinus
• Rosai-Dorfman disease
• Sinus histiocytosis

A 10-year-old girl presented to us with inferonasally displaced, non-axial proptosis of oculus dexter (OD), with ipsilateral, painless massive cervical lymphadenopathy of ten weeks duration. After a detailed hematological work-up and imaging, the histological evidence obtained on cervical lymph node biopsy established the diagnosis of Rosai-Dorfman disease. Although, Rosai-Dorfman disease of unilateral lacrimal gland is extremely infrequent, a high degree of suspicion is warranted in a case of young patient presenting with unilateral isolated lacrimal gland swelling and associated lymphadenopathy, wherein no other cause is found. Treatment protocol should be individualized as per the extent of systemic involvement and functional disability.

• Lacrimal gland swelling
• Rosai-Dorfman disease
• sinus histiocytosis

• CT
• MRI
• Neoplasm
• Peripelvic
• Periureteric
• Renal

To summarize the etiology, pathology, diagnosis, clinical features, and treatment of the rare extranodal Rosai-Dorfman disease (RDD).

Clinical data of three cases of extranodal RDD who were admitted to the E. N. T. Department of the second hospital of Jilin University were analyzed retrospectively, and the literature was reviewed.

Three cases of extranodal RDD (maxillary sinus, nasal pharyngeal focus, and external auditory meatus) had a low fever and weight loss rather than painless enlarged lymph nodes. Surgical intervention was managed to clarify the diagnosis. All pathological diagnoses were extranodal RDD. Predisone for oral use was given to all patients postoperatively. There was no recurrence in the following 3 months, except case 1 was lost 2 months later.

RDD is a rare idiopathic histiocytic proliferative disorder defined by its unique histopathological features: a proliferation of huge histiocytic cells with emperipolesis and S-100(+), CD1a(-). RDD is characterized clinically by bilateral cervical painless enlarged lymph nodes, while extranodal RDD is rarer and its manifestations varied. A defined therapeutic regimen has not been elucidated. RDD in about 20% of patients is self-limited. Surgical intervention is the main management of treatment, with glucocorticoids used in initial medical therapy. More clinical trials are necessary before drawing conclusions.

• Rosai-Dorfman Disease
• extranodal

• Adrenal Cortex Hormones/therapeutic use
• Biopsy
• Disease Management
• Genetic Predisposition to Disease
• Histiocytes/metabolism
• Histiocytes/pathology
• Histiocytosis, Sinus/diagnosis
• Histiocytosis, Sinus/genetics
• Histiocytosis, Sinus/pathology
• Histiocytosis, Sinus/therapy
• Humans
• Immunotherapy
• Mutation
• Practice Guidelines as Topic
• Prognosis
• Radiotherapy

• K08 CA218901 NCI NIH HHS
• L30 CA231804 NCI NIH HHS
• P30 CA008748 NCI NIH HHS
• National Institutes of Health

Rosai–Dorfman disease (RDD) is a rare, nonmalignant disorder of histiocyte proliferation typically involving the cervical lymph nodes. However, a subset of patients with RDD will display extranodal manifestations that are highly variable in presentation, more challenging to diagnose, and less likely to spontaneously regress compared to nodal disease. While case reports of extranodal involvement in nearly every organ system exist, documented instances of mediastinal and pulmonary artery involvement are particularly rare. This study describes the case of a middle-aged woman presenting with new onset right heart failure who was found to have extranodal RDD in the form of a large mediastinal mass with invasion and occlusion of the main pulmonary arteries.

• Rosai-Dorfman disease
• autoimmune atrophic gastritis
• carcinoid tumor
• extranodal disease
• gastrointestinal tract

• computed tomography
• head and neck
• magnetic resonance imaging
• positron emission tomography/computed tomography
• rosai–dorfman disease

• Adult
• Aged
• Aged, 80 and over
• Biopsy, Needle
• Female
• Head/pathology
• Histiocytosis, Sinus/diagnostic imaging
• Histiocytosis, Sinus/pathology
• Humans
• Immunohistochemistry
• Magnetic Resonance Imaging/methods
• Male
• Middle Aged
• Multimodal Imaging/methods
• Neck/pathology
• Positron Emission Tomography Computed Tomography/methods
• Rare Diseases
• Retrospective Studies
• Sampling Studies
• Severity of Illness Index
• Tomography, X-Ray Computed/methods

The coexistence of Rosai-Dorfman disease (RDD) with Langerhans cell histiocytosis (LCH) is very rare, as to date only 17 cases have been reported in the english literature. The pathophysiology of this uncommon co-occurrence still remains enigmatic and a subject of various speculations.

We report a case of a 30-year-old female patient who presented with a pathologic fracture of the left proximal femur. Her medical history was unremarkable, there were no fever, skin lesions, lymphadenopathy or other organomegaly at physical examination. X-ray radiograph of the fractured femur showed an isolated and ill-defined osteolytic lesion. The histopathological analysis of biopsies from this lesion were consistent with a combined RDD-LCH of the bone.

Combined RDD-LCH is a very rare phenomenon, whose pathophysiology still remains unclear and a subject of various speculations.

• Langerhans cell histiocytosis
• Pathology
• Rosai-Dorfman disease