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Head and Neck Pathology Mar 2021Rosai-Dorfman disease (RDD) is a rare and self-limiting disease process that presents most commonly in young patients as massive, painless, cervical lymphadenopathy.... (Review)
Review
Rosai-Dorfman disease (RDD) is a rare and self-limiting disease process that presents most commonly in young patients as massive, painless, cervical lymphadenopathy. Extranodal involvement may also occur. Histopathologic evaluation is the main diagnostic modality. We report an unusual presentation of RDD with cervical lymphadenopathy and an incidentally discovered sinonasal mass, clinically worrisome for malignancy. We emphasize that a high index of clinical suspicion is critical for accurate diagnosis of RDD. Clinicians and pathologists should consider RDD in a differential diagnosis of cervical lymphadenopathy, especially in young patients.
Topics: Child, Preschool; Female; Histiocytosis, Sinus; Humans; Lymphadenopathy; Neck
PubMed: 32504287
DOI: 10.1007/s12105-020-01183-7 -
Medicine Feb 2016Rosai-Dorfman Disease (RDD) is a rare non-neoplastic entity, also known as sinus histiocytosis with massive lymphadenopathy (SHML), characterized by a benign... (Review)
Review
Rosai-Dorfman Disease (RDD) is a rare non-neoplastic entity, also known as sinus histiocytosis with massive lymphadenopathy (SHML), characterized by a benign proliferation of histiocytes in lymph nodes. Localized forms of RDD involving the tracheobronchial tree are very rare. There is no consensus regarding the management of central airway forms and recurrence is frequent. We report the case of an 81-year-old Caucasian woman admitted in 2014 for chronic cough. Her main medical past history included a diagnosis of sinonasal RDD in 1996 with recurrent obstructive rhinosinusitis requiring repeated sinonasal surgery, and a diagnosis of tracheal RDD in 2010 with 2 asymptomatic smooth lesions (5 and 7 mm) on the anterior tracheal wall. Physical examination was normal in 2014. Pulmonary function tests showed an obstructive pattern. Computed tomographic scan revealed a mass arising from the anterior wall of the trachea that projects into the tracheal lumen. Fiberoptic bronchoscopy showed a hypervascular multilobular lesion (2 cm) arising from the anterior tracheal wall and causing 50% obstruction of the tracheal lumen. Mechanical resection with electrocoagulation of the tracheal mass was performed by rigid bronchoscopy with no complication. Histological examination demonstrated tracheal RDD. One year after endotracheal resection, the patient presented no recurrence of cough and the obstructive pattern had resolved. Reports on tracheobronchial involvement are scarce. Symptomatic tracheobronchial obstruction requires mechanical resection by rigid bronchoscopy or surgery. Recurrence is frequent, justifying long-term follow-up.
Topics: Aged, 80 and over; Female; Histiocytosis, Sinus; Humans; Radiography; Respiratory Mucosa; Trachea
PubMed: 26886634
DOI: 10.1097/MD.0000000000002821 -
World Journal of Clinical Cases Jul 2021Rosai-Dorfman disease (RDD) is a rare histiocytic proliferation of unknown etiology commonly found in children and adolescents. The common manifestation of RDD is...
BACKGROUND
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.
CASE SUMMARY
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.
CONCLUSION
In pediatric patients with refractory infectious symptoms or hematological abnormalities, clinicians should suspect RDD, even in patients without significant lymphadenopathy.
PubMed: 34368324
DOI: 10.12998/wjcc.v9.i21.6032 -
Chinese Medical Journal Feb 2018Rosai-Dorfman disease (RDD) is typically characterized by painless bilateral and symmetrical cervical lymphadenopathy, with associated fever and leukocytosis. The aim of...
BACKGROUND:
Rosai-Dorfman disease (RDD) is typically characterized by painless bilateral and symmetrical cervical lymphadenopathy, with associated fever and leukocytosis. The aim of the current study was to summarize the clinical features and imaging characteristics of RDD, in an effort to improve its diagnostic accuracy.
METHODS
The study was analyzed from 32 patients between January 2011 and December 2017; of these, 16 patients had pathologically diagnosed RDD, eight had pathologically diagnosed meningioma, and eight pathologically diagnosed lymphoma. All patients underwent computed tomography and magnetic resonance imaging (MRI). Clinical features and imaging characteristics of RDD were analyzed retrospectively. The mean apparent diffusion coefficient (ADC) values of lesions at different sites were measured, and one-way analysis of variance and the least significant difference t-test were used to compare the differences between groups and draw receiver operating characteristic curves. The tumors were excised for biopsy and analyzed using immunohistochemistry.
RESULTS:
The mean ADCs were (0.81 ± 0.10) × 10 mm/s for intercranial RDD, (0.73 ± 0.05) × 10 mm/s for nasopharyngeal RDD, (0.74 ± 0.11) × 10 mm/s for bone RDD, and (0.71 ± 0.04) × 10 mm/s for soft-tissue RDD. The optimum ADC to distinguish intracranial RDD from lymphoma was 0.79 × 10 mm/s (62.5% sensitivity and 100% specificity) and to distinguish meningioma from intracranial RDD was 0.92 × 10 mm/s (62.5% sensitivity and 100% specificity). Levels of C-reactive protein, erythrocyte sediment rate and D-dimer were significantly elevated (81%, 87%, and 75%, respectively). On immunohistochemistry, RDD was positive for both S-100 and CD68 proteins but negative for CD1a.
CONCLUSIONS:
Conventional MRI, combined with diffusion-weighted imaging and ADC mapping, is an important diagnostic tool in evaluating RDD patients. An accurate diagnosis of RDD should consider the clinical features, imaging characteristics, and the pathological findings.
Topics: Adolescent; Adult; Child; Child, Preschool; Diffusion Magnetic Resonance Imaging; Female; Histiocytosis, Sinus; Humans; Infant; Magnetic Resonance Imaging; Male; Middle Aged; Tomography, X-Ray Computed; Young Adult
PubMed: 29451149
DOI: 10.4103/0366-6999.225053 -
Ear, Nose, & Throat Journal Jul 2023Rosai-Dorfman disease (RDD) is a rare benign systemic histiocytic proliferation characterized by massive lymph node enlargement and sometimes associated with extranodal...
Rosai-Dorfman disease (RDD) is a rare benign systemic histiocytic proliferation characterized by massive lymph node enlargement and sometimes associated with extranodal involvement. Even though it is considered to be benign, death can occur depending on the extent and location. Our case highlights a primary extranodal site of the right pinna with extension through the Eustachian tube to the subglottis. A previously healthy 15-year-old female presented with 1-year right pinna swelling, slowly enlarging and becoming more bothersome. An incisional biopsy was performed on the ear along with S100 staining yielding a diagnosis. After multidisciplinary case discussion, clofarabine monotherapy and systemic therapy for Langerhans cell histiocytosis has started. Rosai-Dorfman disease can be a general disorder, often affecting the lymph nodes. Unlike a nodal disease, extranodal disease could involve any site on the patient's anatomy. Head and neck lesions are the most common extranodal lesions. Rosai-Dorfman disease is self-limited in more than 20% of the cases with spontaneous regression without intervention; 70% of the patients have noticeable symptoms and vital organ involvement requiring treatments such as surgery, steroids, radiation, and chemotherapy. In our case, the patient had wide involvement and presented without any serious breathing difficulties; we decided to start with monotherapy with chemotherapy and systematic glucocorticoid treatment.
Topics: Female; Humans; Adolescent; Histiocytosis, Sinus; Lymphadenopathy; Neck; Lymph Nodes; Ear, External
PubMed: 33973483
DOI: 10.1177/01455613211016704 -
JAMA Oncology Dec 2022Rosai-Dorfman disease (RDD) is a rare histiocytic neoplasm with recent studies showing alterations in the MAPK pathway, most commonly in the KRAS and MEK genes in about...
IMPORTANCE
Rosai-Dorfman disease (RDD) is a rare histiocytic neoplasm with recent studies showing alterations in the MAPK pathway, most commonly in the KRAS and MEK genes in about 40% of patients. Reports on the use of MEK-inhibitor therapy in RDD have been limited to small case studies. There are no approved treatments for this neoplasm, and therefore patients with RDD need efficacious treatments.
OBJECTIVE
To study the outcomes after treatment with cobimetinib based on MAPK pathway alterations in patients with RDD.
DESIGN, SETTING, AND PARTICIPANTS
This retrospective cohort study conducted at 2 tertiary care centers included patients with RDD who underwent treatment with cobimetinib between January 1, 2013, and December 1, 2021. Cobimetinib was administered at a dosage of 20 to 60 mg orally once daily as a single agent for 21 days in a 28-day cycle. Pathology was centrally reviewed. Response assessment was centrally conducted and was based on the established positron emission radiography response criteria used for clinical trials of targeted therapies in histiocytosis.
MAIN OUTCOMES AND MEASURES
Main outcomes were overall response rate (ORR), progression-free survival (PFS), adverse events (AEs) of cobimetinib in the entire cohort, and ORRs and PFS based on MAPK pathway alterations in patients with RDD.
RESULTS
A total of 16 patients (median [range] age at cobimetinib initiation, 57 [31-74] years; 11 [69%] women) were included in the study. The median follow-up duration was 19.0 months (95% CI, 8.4-27.8 months). The ORR was 63% (n = 10), including 5 complete responses and 5 partial responses. Somatic alterations in the KRAS or MEK genes were detected in 8 (50%) patients. Patients with KRAS or MEK alterations had significantly higher ORR (88% vs 38%; P = .03), deeper responses (complete responses among responders: 71% vs 0%; P = .002), and better PFS (at 1 year, 100% vs 29% were free from progression or death, respectively; P < .001) compared with those without such alterations. Grade 2 or higher AEs occurred in 12 (75%) patients, and 9 (56%) required dose reduction or temporary/permanent treatment discontinuation due to AEs.
CONCLUSIONS AND RELEVANCE
In this cohort study, treatment with cobimetinib was associated with positive outcomes in KRAS- or MEK-variant RDD. However, AEs requiring dose modifications were common.
Topics: Humans; Female; Adult; Middle Aged; Aged; Male; Histiocytosis, Sinus; Proto-Oncogene Proteins p21(ras); Retrospective Studies; Cohort Studies; Neoplasms; Mitogen-Activated Protein Kinase Kinases
PubMed: 36201194
DOI: 10.1001/jamaoncol.2022.4432 -
Anais Brasileiros de Dermatologia 2023The authors investigated the expression of IgG4 and IgG in cutaneous Rosai-Dorfman Disease (CRDD) to further improve the understanding of this disease.
OBJECTIVE
The authors investigated the expression of IgG4 and IgG in cutaneous Rosai-Dorfman Disease (CRDD) to further improve the understanding of this disease.
METHODS
The authors retrospectively reviewed the clinicopathological features of 23 CRDD patients. The authors diagnosed CRDD by the presence of emperipolesis and immunohistochemical (IHC) staining of histiocytes consisting of S-100(+)/CD68(+)/CD1a(-) cells. The expressions of IgG and IgG4 in cutaneous specimens were assessed by IHC (EnVision) and quantitatively calculated by a medical image analysis system.
RESULTS
All 23 patients, including 14 males and 9 females, were confirmed to have CRDD. Their ages ranged from 17 to 68 years (mean 47.91 ± 14.16). The most frequently affected skin regions were the face, followed by the trunk, ears, neck, limbs, and genitals. In 16 of these cases, the disease presented as a single lesion. IHC staining of sections showed that IgG was positive (≥ 10 cells/High-Power Field [HPF]) in 22 cases, while IgG4 was positive (≥ 10 cells/HPF) in 18 cases. Moreover, the IgG4/IgG proportion ranged from 1.7% to 85.7% (mean 29.50 ± 24.67%, median 18.4%) in the 18 cases.
STUDY LIMITATIONS
In the majority of studies, as well as in the current study, the design. RDD is a rare disease, so the sample size is small. In the next studies to come, the authors will expand the sample for multi-center verification and in-depth study.
CONCLUSION
The positive rates of IgG4 and IgG and the IgG4/IgG ratio assessed through IHC staining may be important in understanding the pathogenesis of CRDD.
Topics: Male; Female; Humans; Adolescent; Young Adult; Adult; Middle Aged; Aged; Histiocytosis, Sinus; Immunoglobulin G; Retrospective Studies; Skin Diseases; Histiocytes; S100 Proteins
PubMed: 37301673
DOI: 10.1016/j.abd.2022.07.010 -
BMC Pulmonary Medicine Mar 2023Rosai-Dorfman disease (RDD) is a rare benign non-langerhans cell histiocytosis, mainly involving lymph nodes and skin. It is even rarer occurring only in central airway... (Review)
Review
BACKGROUND
Rosai-Dorfman disease (RDD) is a rare benign non-langerhans cell histiocytosis, mainly involving lymph nodes and skin. It is even rarer occurring only in central airway of lung and in diffuse form. Central airway RDD is similar to malignant tumor in imaging by radiological method and in bronchoscopy features. It is difficult to differentiate it from primary airway malignant tumor and to diagnose correctively in time.
CASE PRESENTATION
Here we present a rare case of 18-year-old male diagnosed with primary diffuse RDD in central airway. Although the features examined by enhanced chest computed tomography, positron emission tomography/computed tomography, diffusion-weighted imaging of enhanced chest MRI and bronchoscopy indicate to be malignant tumor, the patient was definitely confirmed by multiple transbronchial biopsies and immunohistochemistry. After two transbronchial resections, the patient's symptoms of paroxysmal cough, whistle sound and shortness of breath were significantly reduced, as well as the airway stenosis was significantly improved. After 5 months of follow-up, the patient had no symptoms and the central airway were unobstructed.
CONCLUSIONS
Primary diffuse RDD in central airway is characterized by intratracheal neoplasm, which is usually suspected as malignant tumor according to radiological image and bronchoscopy. Pathology and immunohistochemistry are necessary for definite diagnosis. Transbronchial resection is effective and safe for patients with primary diffuse RDD in central airway.
Topics: Male; Humans; Adolescent; Histiocytosis, Sinus; Thorax; Tomography, X-Ray Computed; Lung; Positron Emission Tomography Computed Tomography
PubMed: 36894897
DOI: 10.1186/s12890-023-02363-1 -
Nan Fang Yi Ke Da Xue Xue Bao = Journal... Feb 2018Rosai-Dorfman disease (RDD) is a rare histiocytic disorder that has nodal and extranodal manifestations. Currently no guidelines are available for the management of this... (Review)
Review
Rosai-Dorfman disease (RDD) is a rare histiocytic disorder that has nodal and extranodal manifestations. Currently no guidelines are available for the management of this disease. We report a case of laryngeal RDD that did not present with classical symptoms such as fever or lymphadenopathy and could be easily misdiagnosed as malignant tumor. The patient received minimally invasive surgeries combined with steroid therapy to preserve the laryngeal function as much as possible, and a favorable clinical outcome was obtained. Reports of similar cases in literatures were reviewed to obtain a better understanding of the disease course, diagnosis and treatment of this uncommon condition.
Topics: Fever; Histiocytosis, Sinus; Humans; Larynx
PubMed: 29502048
DOI: 10.3969/j.issn.1673-4254.2018.02.01 -
Oncotarget Aug 2015The histiocytoses are rare tumors characterized by the primary accumulation and tissue infiltration of histiocytes and dendritic cells. Identification of the activating...
The histiocytoses are rare tumors characterized by the primary accumulation and tissue infiltration of histiocytes and dendritic cells. Identification of the activating BRAFV600E mutation in Erdheim-Chester disease (ECD) and Langerhans cell histiocytosis (LCH) cases provided the basis for the treatment with BRAF and/or MEK inhibitors, but additional treatment options are needed. Twenty-four cases of neoplastic histiocytic diseases [11 extrapulmonary LCH, 4 ECD, 4 extranodal Rosai-Dorfman disease (RDD), 3 follicular dendritic cell sarcoma (FDCS), 1 histiocytic sarcoma (HS) and 1 blastic plasmacytoid dendritic cell neoplasm (BPDCN)] were analyzed using immunohistochemical and mutational analysis in search of biomarkers for targeted therapy. BRAF V600E mutations were detected in 4/11 LCH and 4/4 ECD cases. A pathogenic PTEN gene mutation and loss of PTEN protein expression were identified in the case of HS. Increased expression of PD-L1 (≥2+/≥5%) was seen in 3/4 ECD, 7/8 LCH, 3/3 FDCS and 1/1 HS, with overall 81% concordance between 2 antibodies used in the study (SP142 vs. MAB1561 clone). These results show for the first time significant expression of the PD-L1 immune checkpoint protein in these disorders, which may provide rationale for addition of immune check-point inhibitors in treatment of disseminated and/or refractory histiocytoses.
Topics: Adolescent; Adult; Aged; B7-H1 Antigen; Child; Child, Preschool; DNA Mutational Analysis; Dendritic Cell Sarcoma, Follicular; Dendritic Cells; Erdheim-Chester Disease; Female; Genetic Markers; Histiocytes; Histiocytic Sarcoma; Histiocytosis, Langerhans-Cell; Histiocytosis, Sinus; Humans; Immunohistochemistry; Male; Middle Aged; Mutation; PTEN Phosphohydrolase; Proto-Oncogene Proteins B-raf; Young Adult
PubMed: 26110571
DOI: 10.18632/oncotarget.4378