Management of intracranial Rosai-Dorfman disease: An institutional experience.

OBJECTIVE: Rosai-Dorfman disease (RDD) is a rare benign proliferative disorder of histiocytes. The study discusses the intracranial RDD approach, its management, and its outcome. METHODS: It is a retrospective study performed in a tertiary center, the National Institute of Mental Health and Neuroscience, Bangalore, from January 2010 to December 2022. The biopsy-proven patients of RDD were recruited in the present cohort. Demographic and surgical details were collected from the record section, and radiology was collected from the internal storage system. Follow-up assessments were done clinically and telephonically. RESULTS: A total of 25 patients matched the criteria. The mean age was 32 ± 13.4 years, with male predominance. We have included only cranial cases (N=25). Among the intracranial lesions, 5/25 (20 %) patients had multicentric lesions. All the lesions were avidly enhancing on contrast, and 16 (64 %) lesions were hypointense on T2. Perilesional edema (T2/Flair hyperintensities in the surrounding white matter) was seen in 12 (48 %) patients. Gross total resection (GTR) was carried out in six (24 %) cases. Sub-total resection was in 14 (56 %), and biopsy was in five cases (20 %). Nineteen patients received adjuvant therapy, either only steroid (40 %), only low-dose radiotherapy (16 %), only Chemotherapy (4 %), or a combination of both. At follow-up,44 % of patients had stable disease,28 % had primary disease or recurrence growth, and regression in 12 % of cases. CONCLUSION: We demonstrate that surgical resection is an effective therapy for treating isolated intracranial RDD. Adjuvant therapy is an add-on treatment for skull base locations in multicentric locations or surgically inaccessible locations.

Thymic Rosai-Dorfmann disease: a case report.

BACKGROUND: Rosai-Dorfman disease (RDD), known as sinus histiocytosis with massive lymphadenopathy, commonly involves lymph nodes in the neck or mediastinum, although extranodal involvement is observed in approximately 40% of RDD patients. RDD involving only the thymus has rarely been reported. Here, we report a case of RDD originating in the thymus. The lesion was surgically removed, and a cure was finally achieved. There was no recurrence after telephone follow-up for 3 years. CASE PRESENTATION: A 52-year-old male was accidentally found to have a 7 × 6 cm anterior mediastinum lump by chest computed tomography (CT). The mediastinal lesion was resected by surgery, and postoperative pathology revealed RDD originating from the thymus. Regular telephone follow-up after surgery lasted 3 years and showed that the patient remained in good condition without any relevant symptoms. CONCLUSIONS: RDD originating in the thymus cannot be characterized from CT images and is easily misdiagnosed as a traditional mediastinal tumor. This is mainly because there is so little disease in this area that physicians are not aware of it. We report this case with the hope that clinicians will have a better understanding of this disease. According to our follow-up results, surgery is an effective means of treatment.

An unusual presentation of unifocal Rosai-Dorfman disease and surgical treatment.

Rosai-Dorfman disease (RDD) is a rare histiocytic disorder with an unclear aetiology, and commonly presents with painless, bilateral cervical lymphadenopathy. Extranodal presentation in the absence of nodal involvement has been reported to have a predilection for the head and neck with less than 20 cases involving the jaw bones and sinuses. We present an interesting case of unifocal RDD of the infratemporal space in the absence of nodal involvement in a 61-year-old female treated with surgical excision and adjuvant radiation therapy.

Mediastinal Rosai-Dorfman Disease with KRAS mutation case report and literature review.

BACKGROUND: Rosai-Dorfman Disease (RDD) is a rare self-limiting histiocytosis, more prevalent in children and young adults. It typically manifests as painless bilateral massive cervical lymphadenopathy but may also extend to extra-nodal sites, with intrathoracic RDD noted in 2% of cases. Distinguishing mediastinal RDD from thymoma on imaging poses challenges, underscoring the reliance on pathological features and immunohistochemical staining for diagnosis. CASE PRESENTATION: Patient, male, 33 years old, underwent lung a CT revealing an enlarged round soft tissue shadow in the anterior superior mediastinum, compared to a year ago. Surgical resection removed the entire mass, thymus, and part of the pericardium, confirming RDD on pathology. Genetic testing using second-generation testing technology identified a KRAS gene point mutation. CONCLUSIONS: No established treatment protocol currently exists for this disease. However, as genetic mutation research progresses, a novel therapeutic avenue is emerging: targeted therapy integrated with surgical interventions.

Rosai-Dorfman disease manifesting as a solitary mass with fat in the thymus a case report.

BACKGROUND: Sinus histiocytosis with massive lymphadenopathy, also known as Rosai-Dorfman disease, is a rare, self-limiting disease that predominantly affects children and young adults. Moreover, the disease is characterized by painless bilateral cervical lymphadenopathy in 95% of the patients. However, few reports are available on the Rosai-Dorfman disease of the thymus. CASE PRESENTATION: We report a rare case of thymic Rosai-Dorfman disease detected using computed tomography. During a medical examination, a 50-year-old man underwent a chest computed tomography scan, which revealed an anterior mediastinal single mass with fat in the thymus. A thymectomy was performed to completely remove the tumor using a thoracoscopic technique due to a clinical suspicion of thymoma. Furthermore, Rosai-Dorfman disease was confirmed using histological and immunohistochemical analyses. CONCLUSIONS: To the best of our knowledge, this is the sixth case of thymus-affecting solitary Rosai-Dorfman disease with histological and immunohistochemical evidence. Fat in the thymus, as was present in this case, has never been described in Rosai-Dorfman disease previously. Our results highlight the challenge of diagnosing this uncommon tumor before surgery, and more cases need to be reported to help with the preoperative diagnosis of such a rare tumor.

[Xanthogranulomatous adrenalitis : A rare and difficult differential diagnosis of adrenal gland tumors]. / Xanthogranulomatöse Adrenalitis : Seltene und schwierige Differentialdiagnose von Nebennierentumoren.

A radiologically diagnosed tumor in a 29-year-old woman with a fever of around 39 °C was operated on under the suspicion of cholecystitis or a liver abscess. A solid tumor was found in the adrenal gland and resected. The frozen section findings did not reveal a clear diagnosis of entity and assignment. Histologically, the tumor was found to consist of densely clustered large histiocyte-like cells with expression of vimentin, CD68, and CD163 as well as negativity for keratin, langerin, and SMA. We diagnosed xanthogranulomatous adrenalitis and discussed the differential diagnoses (Langerhans cell histiocytosis, Rosai-Dorfman disease, malakoplakia, Erdheim-Chester disease).

Isolated Rosai-Dorfman disease of the spine: A systematic literature review.

INTRODUCTION: Rosai-Dorfman disease (RDD) is a rare non-Langerhans cell histiocytosis involving the central nervous system in 5% of cases. Spinal location occurs in less than 1% of extranodal RDD and can be responsible for neurological manifestations. We present a systematic review of cases of isolated spinal RDD. We also report a new case of isolated spinal RDD revealed by spinal cord compression. MATERIALS AND METHODS: The systematic review was performed according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guideline using the MEDLINE and SCOPUS databases and included case reports and case series describing isolated RDD of the spine. RESULTS: There were 53 patients with isolated spinal RDD (including our case). The mean age was 35.85±16.48 years. Neurological deficit was the most frequent clinical presentation (89%). RDD lesions were mainly located in the thoracic spine (51%), then the cervical spine (32%). The lesion was reported to be extradural (57%), intradural extramedullary (26%), intramedullary (7%), and in the vertebral body (10%). Histological examination showed emperipolesis in 73%. Histocytes were positive for S-100 protein in 83%. Treatment was based on surgery 96%), radiotherapy, chemotherapy, and adjunctive steroid therapy were indicated in four, one, and eight cases. After a mean follow-up period of 14.84±13.00 months, recurrence of RDD was noted in 15%. CONCLUSION: Spinal RDD is a rare condition, requiring meticulous histological examination for accurate diagnosis. Complete surgical resection is the treatment of choice. Adjuvant chemotherapy and radiotherapy can also be indicated in patients demonstrating partial improvement following surgery.

Cervical spine Rosai-Dorfman disease: A case report and literature review.

BACKGROUND: Rosai-Dorfman disease is a benign lymphatic tissue proliferative disease with slow growth and is rarely observed in the clinic. Most of these patients present clinically with enlarged lymph nodes. In patients with spinal extranodal Rosai-Dorfman disease, which is even rare than the disease of lymph nodes, patients may experience numbness and weakness in the extremities. CASE PRESENTATION: We report a 32-year-old male patient with multi-segmental spinal Rosai-Dorfman disease. On admission, his left fingers had been numb for 2 months. Over a 2-month period, the limb numbness progressed from the left to the right hand. The patient underwent resection of the lesion and internal fixation of the C2-C7 spine. The postoperative outcomes were satisfied and no recurrence was observed at 1-year follow-up. CONCLUSION: Spinal Rosai-Dorfman disease is a relatively rare tumor of which the pathogenesis is still unclear, and most patients have no specific clinical manifestations. Characteristic imaging findings can indicate this disease, however, a definitive diagnosis still depends on a pathological examination. Currently, total surgical resection of the tumor is a relatively effective and preferred treatment.

Primary unifocal thymic Rosai-Dorfman disease: an extremely rare challenge in diagnostic practice.

Rosai-Dorfman disease (RDD) is currently considered a group of neoplastic diseases of unknown etiology, with monoclonal proliferation of histiocytes, showing unique histopathologic features and varying clinical presentation. Primary thymic RDD is an extremely rare extranodal form of this disorder. In this study, we describe the case of an otherwise healthy 64-year-old Chinese man who presented with an isolated, asymptomatic soft tissue density lesion in the anterior mediastinum detected by computed tomography. Histology of the surgical specimen revealed infiltration of thymic tissue by sheets of large histiocytes with mixed lymphocytes and plasma cells, and background fibrosis. Immunohistochemical staining of the histiocytes was positive for S100, CD68, CD163, OCT2 and cyclin D1, but negative for CD1a and BrafV600E expression, thus supporting a diagnosis of RDD. Primary thymic RDD is extremely rare and may be a diagnostic challenge when presenting as mediastinal lesion.

Malignus emlotumor? Gyulladásos emloelváltozás? Ritka benignus kórkép?

Case-report: Rosai-Dorfman disease, also known as sinus histiocytosis with massive lymphadenopathy is a rare, benign non-Langerhans cell histiocytosis, that typically involves the lymph nodes, but may also involve extranodal sites. We present a 58- years- old female patient who complained of a palpable mass in her left breast surrounded by 15-20 livid cutaneous lesions, resembling malignant breast cancer with cutaneous metastasis. Despite of core biopsy of the tumor and excisional biopsy one of the lesions, correct diagnosis of RDD was achieved only by complete pathological examination of the whole lesion after surgical excision. Conclusion: Rosai-Dorfman disease confined to the breast is extremely rare, that clinically may mimic breast cancer.

Cerebral manifestation and diagnostic dilemma of Rosai-Dorfman disease.

Rosai-Dorfman disease (RDD) is a rare, S100-positive histiocytic proliferation, that can cause both nodal and extranodal illness. We present a case of a 53-year-old male patient. Magnetic resonance imaging described a plaque-like meningeal lesion, and the preoperative diagnosis was meningioma. Histologically, dense infiltration of lymphocytes, plasma cells, and histiocytes was seen, furthermore, the presence of emperipolesis in the sample was pronounced. In the histiocytes nuclear and cytoplasmic positivity with S100 protein, and nuclear positivity with Cyclin D1 was observed. The case was concluded as RDD. Morphological appearance of intracranial RDD with imaging procedures can present a differential diagnostic challenge. The correct diagnosis is based on the presence of histiocytes with emperipolesis, and properly defined immunohistochemical characteristics.

Spinal Rosai-Dorfman disease-a report of 2 cases and review of literature.

INTRODUCTION: Rosai-Dorfman Disease (RDD) is a rare benign histiocytic disease that infrequently affects the spine. We report two cases of spinal RDD and review the relevant literature. This report addresses the various diagnostic dilemmas related to the evaluation of Spinal RDD and its treatment. CASE PRESENTATION: Case 1: A 32-year-old male presented with low back pain and left anterior thigh for last 8 months. On examination, there was sensory diminution on inner aspects of the thigh with an absent left knee jerk. CT/MRI scans revealed an extradural lesion at L2/3 with neural compression. PET scan showed several hypermetabolic lesions in ribs, humerus, femur, and vertebrae. He underwent en bloc excision of the extradural mass with L2-3 pedicle screw-rod fixation and was later managed with chemotherapy. Case 2: A 42-year-old male presented with spastic paraparesis with urinary incontinence for the last 4 weeks. On examination, he had a neurological level of T6. MRI scan revealed a lesion in posterior elements of T6-7 compressing the spinal cord. He underwent T6-7 laminectomy with decompression. In both cases, the diagnosis was confirmed by histopathology and further managed by Hemato-oncologist. They both did well at 1-year follow-up with improvement in neurology. DISCUSSION: Spinal RDD to date remains a large diagnostic dilemma with no pathognomonic clinical or radiological features; mimicking many osteolytic lesions in the spine. The diagnosis is purely histopathological and immunological. The lesion's complete surgical excision is the mainstay of treatment with a better prognosis and decreased chances of recurrences.

Temporal bone manifestation of primary extranodal Rosai-Dorfman disease: a case report.

BACKGROUND: Rosai-Dorfman disease is a rare benign histiocytic disorder characterized in most cases by painless cervical adenopathy. Less than 10% of extranodal cases involve bony lesions. Primary bone Rosai-Dorfman disease in the absence of nodal disease is extremely rare. CASE PRESENTATION: A 48 year-old Caucasian male presented with progressive right-sided otalgia, tinnitus, vertigo, and hearing loss. A right temporal bone lytic lesion was detected on diagnostic imaging. Resection of the lesion and histopathological examination revealed Rosai-Dorfman disease. CONCLUSIONS: Rosai-Dorfman disease primary bone lesions are an atypical presentation of a rare disease. This is the second reported case of Rosai-Dorfman disease arising within the temporal bone. This case study reveals that Rosai-Dorfman disease should be considered for patients presenting with inflammatory/lytic lesions of the temporal bone, in cases where infection and malignancy have been excluded.

Surgical management and outcome of primary intracranial Rosai-Dorfman disease: a single-institute experience and pooled analysis of individual patient data.

Primary intracranial Rosai-Dorfman disease (PIRDD) is considered a nonmalignant nonneoplastic entity, and the outcome is unclear due to its rarity. The study aimed to elaborate the clinic-radiological features, treatment strategies, and progression-free survival (PFS) in patients with PIRDD. Patients with pathologically confirmed PIRDD in our institute were reviewed. Literature of PIRDD, updated until December 2019, was systematically searched in 7 databases (Embase, PubMed, Cochrane database, Web of Science, Wanfang Data Knowledge Service Platform, the VIP Chinese Science and Technology Periodical Database (VIP), and the China National Knowledge Infrastructure (CNKI)). These prior publication data were processed and used according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Clinical-radiological characteristics and adverse factors for PFS were evaluated in the pooled cohort. The pooled cohort of 124 cases (81 male and 43 female), with a mean age of 39.7 years, included 11 cases from our cohort and 113 cases from 80 prior studies. Twenty-nine patients (23.4%) had multiple lesions. Seventy-four patients (59.7%) experienced gross total resection (GTR), 50 patients (40.3%) had non-GTR, 15 patients (12.1%) received postoperative adjuvant radiation, and 23 patients (18.5%) received postoperative steroids. A multivariate Cox regression revealed that GTR (HR = 4.52; 95% CI 1.21-16.86; p = 0.025) significantly improved PFS, and multiple lesions (p = 0.060) tended to increase the hazard of recurrence. Neither radiation (p = 0.258) nor steroids (p = 0.386) were associated with PFS. The overall PFS at 3, 5, and 10 years in the pooled cohort was 88.4%, 79.4%, and 70.6%, respectively. The PFS at 5 and 10 years in patients with GTR was 85.4% and 85.4%, respectively, which was 71.5% and 35.8%, respectively, in patients without GTR. Gross total resection significantly improved PFS and was recommended for PIRDD. Radiation and steroids were sometimes empirically administered for residual, multiple, or recurrent PIRDD, but the effectiveness remained arguable and required further investigation.Systematic review registration number: CRD42020151294.

Craniocervical Rosai-Dorfman Disease presentation: Case report and review of literature.

Rosai Dorfman Disease (RDD) is a benign histiocytic lymphoproliferative disease that has variable presentations. The concurrent presentation of RDD in the spinal cord and brain parenchyma is an extremely rare entity. Here, we report another case of a 24-year-old gentleman who presented with a tuberculum sellae and bilateral cavernous extra-axial tumors extending to the subtemporal lobe and was found to have craniocervical lesions. Axillary lymph node biopsy was done showing markedly dilated sinuses filled with large histiocytes and emperipolesis of numerous lymphocytes and plasma cells confirming the diagnosis of RDD. Because the definitive diagnosis of RDD is always pathological, the clinical presentation plays a major role in widening the margin of differential diagnosis. Finally, surgical intervention is the first option to treat RDD with relatively satisfactory follow-up outcomes, and other adjuvant therapies optimize the prognosis.

Rosai-Dorfman Disease in the Skull Base: A Case Series Study.

OBJECTIVE: Rosai-Dorfman disease (RDD) is a rare, idiopathic, and non-neoplastic histio-proliferative disease that is uncommon in the central nervous system. Hence, reports of management of RDD in the skull base are scarce and only a few studies on skull base RDD are available. The objective of this study was to analyze the diagnosis, treatment, and prognosis of RDD in the skull base and explore an appropriate treatment strategy thereof. METHODS: Nine patients with clinical characteristics and follow-up data from our department between 2017 and 2022 were included in this study. From this information, the clinical profiles, imaging, treatment, and prognosis data were collected. RESULTS: There were 6 male and 3 female patients with skull base RDD. These patients ranged in age from 13 to 61 years, with a median age of 41 years. The locations included 1 anterior skull base orbital apex, 1 parasellar region, 2 sellar regions, 1 petroclivus, and 4 foramen magnum regions. Six patients underwent total resection and 3 underwent subtotal resection. Patient follow-up lasted 11-65 months, with a median duration of 24 months. One patient died, 2 experienced recurrence, and the other patients' lesions were stable. The symptoms worsened and new complications occurred in 5 patients. CONCLUSIONS: Skull base RDDs are intractable diseases with a high rate of complications. Some patients are at risk of recurrence and death. Surgery may be the basic treatment for this disease, and combined therapy including targeted therapy or radiation therapy may also be a valuable therapeutic strategy.

Rosai-Dorfman Disease of the Rectum: Newly Identified Genetic Point Mutations and Robotic Resection.

Rosai-Dorfman disease (RDD) is a rare disease characterized by histiocytic proliferation which typically presents as massive, painless, cervical lymphadenopathy in children or young adults. GI involvement is exceedingly rare with only 20 documented cases to date. Of those 20 cases, only 3 cases have involved the rectum. Here, we present 2 cases of rectal RDD with attention paid to the diagnostic and technical challenges presented by this disease. When presenting as a perirectal mass, RDD can be mistaken for other lesions to include malignancy, leading to surgical removal. We present a video of a robotic low-anterior resection with intracorporeal anastomosis in order to remove a pelvic mass involving the rectum, initially considered to be a stromal tumor. In addition, we describe a copy number variation in AKT and 3 point mutations detected by next generation sequencing, which had not been previously reported in association with this disease.

Rosai-Dorfman disease mimicking cavernous hemangioma: a case report.

A 31-year-old female presented to the clinic with a 2 year history of proptosis of the right eye. She was diagnosed with cavernous hemangioma during her initial ophthalmologic consult and was advised monitoring. However, after a considerable increase in proptosis, she underwent an excision biopsy of the right orbital mass. A diagnosis of Rosai Dorfman disease was made after the histopathology report revealed a fibrosclerotic tissue with histiocytic proliferation showing emperipolesis that is mixed with numerous small lymphocytes and plasma cells. Rosai Dorfman disease is a rare disease presenting with lymphadenopathy and sinus histiocytosis. Orbital involvement can be the principal manifestation with proptosis as the most common presentation. Resection of the orbital lesion helped in the resolution of the mild ophthalmic symptoms but since the disease has other systemic associations, a complete systemic workup should be done to monitor recurrence.