Central Nervous System Rosai-Dorfman Disease Research Articles

Primary Rosai-Dorfman disease of the central nervous system: A clinical, histological, and molecular appraisal.

Rosai-Dorfman disease (RDD) is characterized by clonal proliferation of S-100 positive histiocytes and variable emperipolesis. It commonly affects cervical lymph nodes. Central nervous system (CNS) involvement is extremely rare. We attempted to evaluate the Cyclin D1 expression and frequency of KRAS and BRAF mutations in the RDD involving the CNS. All patients with histopathologically diagnosed RDD involving CNS were recruited from 2011 to 2022. All cases were subjected to immunohistochemistry for CD68, CD163, S100, CD1a, GFAP, CD207, EMA, ALK, BRAFV600E, IgG4, IgG, and CyclinD1. The real-time polymerase chain reaction (RT-PCR) for hotspot mutation analysis of KRAS (exons 2, 3, and 4) and BRAF (V600E) was conducted on formalin-fixed paraffin-embedded tissue using a commercial kit (EntroGen). A total of seven cases were included. The median age was 31 years, with six men and one woman. It showed spinal cord (n = 4) and intracranial (n = 3) involvement. Histologically, all cases showed histiocyte-rich inflammation with evidence of emperipolesis. These histiocytes were positive for S100, CD68, CD163, and Cyclin D1, whereas negative for CD1a, CD207, and EMA. BRAF V600E was expressed in a single case. None of the control cases (demyelination and infarction) with histiocytic infiltrate showed Cyclin D1 expression. Four RDD cases showed increased IgG4-positive plasma cells (>10/HPF) and IgG4/IgG ratio (>40%). BRAF V600E mutation was detected in one case (14.28%), while none showed KRAS mutation. RDD involving CNS is extremely rare and diagnostically challenging. Nuclear Cyclin D1 expression along with S-100 positivity in the tumor cells is a strong diagnostic clue. BRAF and KRAS mutations are rare in CNS RDD.

Recurrent central nervous system Rosai-Dorfman disease with KRAS mutation: a case report

BackgroundRosai-Dorfman disease (RDD) is a rare, non-Langerhans cell histiocytosis of unknown etiology. we report a very rare case of recurrent central nervous system RDD with KRAS gene mutation and review the literature to improve our understanding of this disease.Case presentationA 19-year-old male patient was admitted to our hospital for headache. Cranial magnetic resonance imaging revealed a mass of abnormal signal shadows in the prepontine cistern. The mass was surgically removed and the patient was consequently diagnosed with intracranial Rosai-Dorfman disease. Seven months later, pathological examination confirmed that the RDD had recurred. Next-generation sequencing found KRAS mutation in exon 4 (C.351A > C. P. K117n).ConclusionRDD of the CNS has no distinct clinical manifestations and imaging characteristics, and the final diagnosis should be based on the results of the pathological examination. Although RDD is not currently classified as a neoplastic disorder, some evidence of clonality has changed our understanding of it. Follow up examinations over a long period are necessary to determine the efficacy of treatment.

Management of central nervous system Rosai-Dorfman disease: A single center treatment experience

Rosai-Dorfman disease (RDD) is an idiopathic histiocytic proliferation disease with various clinical manifestations. A retrospective study of patients with pathological diagnosed RDD primarily involved in the central nervous system was conducted from January 2011 to December 2020 at a tertiary center. The clinical profile, imaging, and treatment data were collected. There were 16 male and 5 female patients with RDD-CNS. The patients were aged from 6 to 68 years with a median of 37 years. Of these 21 patients, 15 presented with intracranial RDD and 6 with spinal RDD. The main symptoms of RDD-CNS included headache, epilepsy, and neurological deficits. 76.19% (16/21) of the patients showed dura-based, homogeneous enhancement lesion on magnetic resonance imaging (MRI). Twenty patients received surgery as first treatment, and one patient received biopsy after steroid therapy. Total lesion resection was achieved in 42.9% (9/21) of the patients, subtotal resection in 47.6% (10/21), and biopsy in 0.9% (2/21). The symptoms were alleviated or stayed stable. Some RDDs (80%, 4/5) in the skull base had some complications. The patients were followed up for 11–108 months with a median duration of 47 months. Lesion progression or recurrence was found in two patients. The various clinical manifestations, as well as the dura-based and homogenous enhancement imaging profiles of RDD-CNS patients pose a great diagnostic challenge for clinicians. Surgery is effective for RDD-CNS requiring treatment. Medical therapy and radiotherapy would be feasible as noninvasive treatments, varying degrees of efficacy. The overall prognosis of RDD-CNS is acceptable. Periodic long-term follow-up is necessary.

FDG-PET/CT image of a cystic central nervous system Rosai-Dorfman disease.

FDG-PET/CT image of a cystic central nervous system Rosai-Dorfman disease.

Benign scalp lump as an unusual presentation of extranodal Rosai-Dorfman Disease

Background:Rosai–Dorfman disease (RDD) is a rare benign histioproliferative disease. It is typically characterized by benign histiocyte proliferation with lymphadenopathy, fever, and leukocytosis and was first described in 1969 by Rosai and Dorfman. Extranodal involvement has been reported in approximately up to 43% of the cases with isolated central nervous system (CNS) manifestations being even rarer.Case Description:We report our management of a 41-year-old female with extranodalpurely CNS RDD presenting as a benign scalp lump. Her lump progressed from an asymptomatic benign lesion to one causing localized cerebral edema. Treatment was surgical excision of both the cervical and CNS lesions achieving complete removal of the lesions and resolution of her symptoms.Conclusion:RDD is a rare condition and isolated CNS RDD is even less common. Benign scalp lumps have a myriad of differential diagnoses, but RDD should be a consideration in the presence of preexisting RDD lesions at other sites given its potential to progress and result in morbidity. It is imperative to be aware that symptoms may be especially deceiving as the absence of lymphadenopathy may point away from RDD as the diagnosis.

Complications of surgical treatment ofRosai-Dorfman Disease: A case report and review

Background:Rosai–Dorfman disease (RDD) was first described in 1969 as an idiopathic histiocytic proliferative disorder. It commonly presents as a massive and painless adenopathy. Until 1990, extranodal involvement of the central nervous system (CNS) was rare and reported in less than 5% of the total number of patients with extranodal RDD. Complete removal of CNS RDD has been achieved in many cases.Case Description:We report a case of an isolated intracranial RDD in a 53-year-old man. The patient had an episode of generalized seizures. Imaging studies of the brain were compatible with a meningioma en plaque. The mass was exposed by a right frontotemporal craniotomy. The tumor was adhered tightly to the adjacent cerebral cortex and was permeated by pial arteries of the brain surface. The sacrificing of these arteries was inevitable in order to achieve the total removal of the tumor. The patient had incomplete left hemiparesis after the surgery. Brain computed tomography (CT) imaging revealed a postoperative hemorrhage and a low-density lesion in the right frontal lobe. The patient was postoperatively diagnosed with isolated central nervous system RDD.Conclusion:Although the complete removal of dural-based lesions without any neurological deficits has been performed in many cases, the treatment of cases with high risks, such as the present case, indicates conservative excisions and adjuvant radiotherapy with or without chemotherapy.

Rosai-Dorfman Disease with Massive Intracranial Involvement: Asymmetric Response to Conservative Therapy

Rosai-Dorfman Disease (RDD) is a rare, idiopathic lymphoproliferative disorder. Central nervous system (CNS) involvement in this disorder is an uncommon manifestation. The clinical and radiographic appearance of CNS RDD is variable, and may mimic more common diseases. Treatment is controversial, and spontaneous remission is common. Positive outcomes have been reported with radiation therapy, or corticosteroid administration, or surgical excision. Our case is unusual in that the extracranial sites of involvement responded to corticosteroid therapy while the intracranial masses progressed.

Diagnosis and management of Rosai–Dorfman disease involving the central nervous system

Introduction: Rosai–Dorfman disease is a benign non-neoplastic proliferative disorder of histiocytes originally described in the cervical lymph nodes. Extranodal sites were later recognized, and by 1990, they were shown to represent over 40% of cases; however, central nervous system involvement is still considered rare. We review the literature, which shows a steady increase in reports of Rosai–Dorfman disease involving the brain and/or spine.Methods: A literature search was performed for the period 1969–2008, using multiple search engines, with keywords Rosai–Dorfman disease, central nervous system Rosai–Dorfman disease and sinus histiocytosis with massive lymphadenopathy.Results: By December 2008, 111 cases of Rosai–Dorfman disease involving the central nervous system had been reported in the literature, including our cases. In the central nervous system, Rosai–Dorfman disease is ubiquitous. Although it is characterized by unique, indeed pathognomonic, histopathological cytoarchitecture, it may be mistaken for many other neoplastic and inflammatory histioproliferative diseases. Surgical resection with post-operative corticosteroids remains the treatment of choice.Conclusions: Rosai–Dorfman disease involving the central nervous system appears to be more common than previously thought and may well assume a more prominent place in the differential diagnoses of dural-based lesions. Expert awareness of the characteristic histopathology and immunohistochemistry of the disease is required for accurate diagnosis.

CT and MRI analysis of central nervous system Rosai-Dorfman disease

Objective To study the CT and MRI imaging features of central nervous system Rosai-Dorfman disease and to enhance knowledge and differential diagnostic ability for central nervous system Rosai-Dorfman disease.Methods The CT and MRI imaging appearances in 4 cases of pathologically proven Rosai-Dorfman disease were retrospectively evaluated and the literature of central nervous system Rosai-Dorfman disease were reviewed.Results Two cases had cranial CT scans,4 cases had cranial MRI scans,On CT scans,cerebral edema was demonstrated in one case and the other case was normaL MRI scans showed the lesions were solitary in saddle area in 3 cases,and multiple in anterior cranial fossa in 1 case.The lesions exhibited iso- to hypointensity on both T1WI and T2WI images.Following intravenous injection of contrast medium,ring-like enhancement was seen in 2 cases and homogeneous enhancement in 1 case.Nodular enhancement was seen in the case of multiple lesions in the anterior cranial fosse.All lesions were dural-based.Conclusions In patients with fever,headache,elevation of the erythrocyte sedimentation rate (ESR) and a polyclonal increase in .γ-globulins,the possibility of central nervous system Rosai-Dorfman disease should be considered when single or multiple dural-based mass lesions,especially in sellar region,were identified by CT and MRI. Key words: Histiocytesis,sinus; Central nervous system; Magnetic resonance imaging; Tomography,X-ray computed

Regression of intracranial Rosai–Dorfman disease following corticosteroid therapy

Rosai-Dorfman disease (RDD) is an idiopathic histioproliferative disorder usually presenting with massive, painless lymphadenopathy. Extranodal involvement has been reported including at least 50 cases affecting the central nervous system (CNS). The treatment of CNS RDD as reported in the literature has primarily involved a surgical technique. The authors report on the case of a 53-year-old man presenting with multiple skull base lesions mimicking meningiomas. The patient suffered visual deterioration and underwent a right orbitopterional craniotomy as well as optic nerve decompression. Histopathological analysis revealed histiocytic cells and emperipolesis consistent with RDD. Following surgery, corticosteroid agents were administered, leading to marked resolution of both the remaining surgically untreated lesions and the balance of the patient's symptoms. This report represents the first case of the resolution of intracranial RDD following corticosteroid therapy. Corticosteroid agents should be considered an effective option in the treatment of CNS RDD.