Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019625 (Rosai-Dorfman disease)
 763 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Peripheral T-cell lymphomas are a heterogeneous group that often requires the use of ancillary testing for accurate diagnosis. This is particularly applicable to the diagnosis of angiommunoblastic T-cell lymphoma (AITL) and peripheral T-cell lymphoma, unclassified (PTCLU), because of their histologic and immunophenotypic overlap with reactive lymphoid proliferations. Recently, immunohistochemistry for programmed death-1 (PD-1), a marker of follicular helper T cells, was shown to be sensitive in the detection of AITL and PTCLU. The sensitivity of this marker in reactive entities, however, has not been adequately evaluated. We confirm that PD-1 staining is a highly sensitive marker in the diagnosis of peripheral T-cell lymphomas: increased extrafollicular PD-1-positive cells were seen in 93% (76/82) of AITL, 62% (16/26) of PTCLU, and 11% (2/18) of anaplastic-lymphoma-kinase (ALK)-negative anaplastic large-cell lymphomas. The majority of reactive lymphadenopathies including Cat-scratch disease, Kikuchi lymphadenitis, Castleman disease, and reactive follicular hyperplasia showed no PD-1 staining outside follicles. Some reactive lymph nodes, showed increased extrafollicular PD-1-positive cells in a pattern similar to AITL and PTCLU, and include progressive transformation of germinal centers, viral lymphadenitis (Epstein-Barr virusand human immunodeficiency virus) and Rosai-Dorfman disease. This study shows that PD-1-positive cells may be increased in a number of settings other than T-cell lymphomas. We conclude that staining for PD-1 in reactive and atypical lymphadenopathies should be interpreted with caution and in the context of other ancillary immunophenotypic and molecular studies before a diagnosis of AITL or PTCLU is entertained.
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PMID:PD-1 expression in T-cell lymphomas and reactive lymphoid entities: potential overlap in staining patterns between lymphoma and viral lymphadenitis. 2008 61

Patients with autoimmune lymphoproliferative syndrome (ALPS) have defective lymphocyte apoptosis with increased risk for lymphoid malignancies. Herein, we report a patient with ALPS who developed histiocytic sarcoma in a background of sinus histiocytosis and massive lymphadenopathy or Rosai- Dorfman disease. This patient had documented ALPS type Ia with a germline missense mutation in exon 9 of the TNFRSF6 gene (973 A>T, D244V) encoding Fas (CD95/Apo-1). He presented at 10 months with hepatosplenomegaly and autoimmune hemolytic anemia and was diagnosed with ALPS. At the age of 6 (1/2) years, he developed classic Hodgkin lymphoma which was treated using standard chemotherapy. Two years later, a biopsy of a positron emission tomography-positive axillary node showed features of ALPS and focal involvement by sinus histiocytosis and massive lymphadenopathy. Thereafter, the patient continued to have continued lymphadenopathy and progressive splenomegaly, leading to exploratory surgery at the age of 13 years for suspicion of lymphoma. Para-abdominal nodes revealed sheets of malignant- looking histiocytes with increased mitotic activity and areas of necrosis, indicative of histiocytic sarcoma. Spleen and lymph nodes also showed involvement by Rosai-Dorfman disease. Both components had an identical phenotype of S-100+/CD68+/ CD163+. The occurrence of malignancies involving 2 separate hematopoietic lineages in ALPS has not been reported earlier. Given the central role of defective Fas signaling in ALPS, histiocytes may be yet another lineage at risk for neoplastic transformation secondary to a block in apoptosis.
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PMID:Development of disseminated histiocytic sarcoma in a patient with autoimmune lymphoproliferative syndrome and associated Rosai-Dorfman disease. 2021 76

We present a case of Rosai-Dorfman disease misdiagnosed as lymphoma involving the right breast. Initially, the patient was diagnosed as malignant lymphoma, mucosa-associated lymphoid tissue type. After lumpectomy, she did not receive further management. Five months later, she developed a local recurrence in the right breast. She underwent incisional biopsy of the recurrent right breast lesion. Pathology demonstrated Rosai-Dorfman disease. She was prescribed oral prednisolone of 5 mg daily for 4 weeks. However, the lump persisted and did not respond to the therapy. She was treated with lumpectomy of the recurrent right breast lesion at her request for cosmetic reasons and has regular postoperative follow-up for the last 2 years.
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PMID:A mimic of breast lymphoma: extranodal Rosai-Dorfman disease. 2022 Mar 38

Sinus histiocytosis with massive lymphadenopathy (SHML) or Rosai-Dorfman disease (RDD) is an uncommon but well-defined benign self-limited clinicopathological entity. It mainly involves lymph nodes. Extranodal involvement is seen in up to 43% of cases, with the most common location in the head and neck region. Primary RDD occurring in the bone is rare with only twelve cases reported in the literature to date, all diagnosed on histology except one by fine needle aspiration (FNA) cytology. We report a case of RDD diagnosed by FNA cytology in a 28 year-old female presented as an osteolytic lesion of superior pubic ramus where the differential diagnosis included a sarcoma and lymphoma. Based on the cytologic findings, a diagnosis of a RDD was considered during the rapid FNA on site with no clinical history provided. The diagnosis of RDD was further confirmed by immunohistochemical stains and histology diagnosis. Our findings show that even in the absence of a clinical history, FNA is a less invasive and a very reliable tool for the diagnosis of SHML (RDD).
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PMID:Fine needle aspiration diagnosis of Rosai-Dorfman disease in an osteolytic lesion of bone. 2080 72

Soft tissue Rosai-Dorfman disease (STRDD) is rare, previously reported only as single cases and few series. Simian virus 40 (SV40), a polyomavirus, has been identified in lymphoid processes and has a controversial role in neoplasia etiology. Occasional cytoplasmic pink granular inclusions and nuclear changes led us to explore a viral etiology. Only unpublished STRDD from our files with adequate material, soft tissue location, and diagnostic confirmation were included. Immunohistochemistry and follow-up were obtained. Eighteen STRDD patients, 4 male and 14 female, had 29 lesions; 5 with 2 or more lesions. Ages ranged from 8 to 81 years (mean 42.6 years and median 42.5 years). Soft tissue Rosai-Dorfman disease locations include trunk or proximal extremity (n = 19), distal extremity (n = 5), "abdominal" (n = 3), face (n = 1), and unknown subcutaneous site (n = 1). Sizes ranged from 0.5 to 13.7 cm (median, 2.4 cm). Previous disease included lymphoma, buttocks injection site, diabetes and hypothyroidism, and radiation for chronic dermopathy. No patients had a preceding or concurrent known viral infection; none had lymphadenopathy at present. None were known to be immunocompromised. Soft tissue Rosai-Dorfman disease was rapidly progressing. Initial pathologic diagnosis ranged from Rosai-Dorfman disease or inflammatory pseudotumor to inflammatory malignant fibrous histiocytoma. Grossly STRDDs were multilobulated, tan-yellow, and firm; morphologically, circumscribed, and subcutaneous-based. All had sheets of polygonal histiocytes with abundant pale eosinophilic cytoplasm, emperipolesis, plasma cells, and lymphocytes scattered and within clusters. Focal spindle cell change and mild pleomorphism were each observed in 3 patients; 2 had focal necrosis, none with mitoses. Small granular pink cytoplasmic inclusions and nuclear viral-like changes were observed. By immunohistochemistry, all STRDDs were positive for S100 protein, negative for CD1a, Epstein-Barr virus, and latent membrane protein, yet 3 (all abdominal, 1 multicentric) of the 9 studied were focally positive for cytoplasmic and nuclear SV40 polyomavirus. All were treated by local excision. Follow-up on 14 patients older than 8 to 16 years revealed recurrence in 3 patients with persistent multiple lesions, one with abdominal location. There were no metastases or death from disease. Soft tissue Rosai-Dorfman disease is a rapidly evolving, mostly solitary and nonrecurrent trunk and proximal extremity subcutaneous lesion in middle-aged females. More than one third can have persistent multicentric disease. It is important to recognize STRDD, to separate it from malignancy. Epstein-Barr virus/latent membrane protein was negative but polyomavirus was positive in 3 patients with abdominal STRDD, one with multicentric persistent disease. The relationship of polyomavirus to the evolution of abdominal STRDD should be further explored.
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PMID:Soft tissue Rosai-Dorfman disease: 29 new lesions in 18 patients, with detection of polyomavirus antigen in 3 abdominal cases. 2085 Jun 91

Sinus histiocytosis with massive lymphadenopathy (SHML), also known as Rosai-Dorfman disease, is a rare self-limiting disorder of histiocytes with unknown etiology. Sinus histiocytosis with massive lymphadenopathy is most common in children and young adults and is characterized by painless lymphadenopathy. Histologically there is a proliferation of sinus histiocytes with lymphophagocytosis or emperipolesis. On rare occasions, SHML has been associated with lymphoma, usually involving different anatomic sites and developing at different times. We report a case of concomitant SHML and nodal marginal zone lymphoma involving the same lymph node without involvement of other nodal or extranodal sites. The presence of concomitant SHML within the lymph node involved by nodal marginal zone lymphoma may represent the responsiveness of SHML histiocytes to B-cell-derived cytokines in lymphoproliferative disorders. To our knowledge, this is the first description of concomitant occurrence of SHML and nodal marginal zone lymphoma.
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PMID:Concomitant occurrence of sinus histiocytosis with massive lymphadenopathy and nodal marginal zone lymphoma. 2136 66

Rosai-Dorfman Disease (RDD) or Sinus Histiocytosis with Massive Lymphadenopathy (SHML) is a rare disorder typically manifesting as enlarged lymph nodes with or without systemic involvement. These cases are often clinically misdiagnosed as lymphoma. Recognising this entity to distinguish it from lymphoma and other causes of histiocytosis is important because of different treatment modalities for these disorders. Extranodal involvement is also common, often with a particular predilection for the head and neck region. We report a rare case of Rosai-Dorfman Disease with both nodal and extranodal involvement in a 33-year-old woman. The patient had bilateral cervical lymphadenopathy and diffuse thyroid enlargement. Thyroid gland involvement in RDD diagnosed on fine needle aspiration cytology (FNAC) has rarely been reported in literature. FNAC is a useful and reliable tool for the diagnosis of RDD and the biopsy can be avoided in these patients, thus reducing inconvenience to patients.
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PMID:Rosai-Dorfman disease: A case report with extranodal thyroid involvement. 2163 Apr 84

The use of positron emission tomography (PET) scans is rapidly evolving in the diagnosis, treatment, and surveillance of lymphoma. However, significant challenges exist in differentiating lymphomatous from benign lesions. Herein we describe the clinical and radiographic uptake patterns seen in common clinical mimics of lymphoma, including infections such as human immunodeficiency virus and tuberculosis, inflammatory disorders such as sarcoidosis and connective tissue disorders, and other benign lymphoproliferative disorders such as Kikuchi's disease and Rosai-Dorfman disease. The clinical utility of PET scans has encompassed varying fields, not just oncology. Future challenges with the use of improved radiopharmaceuticals in accurately defining and differentiating lesions that would affect clinical treatment would be of paramount importance.
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PMID:Positron emission tomography findings in clinical mimics of lymphoma. 2171 19

Rosai-Dorfman disease (also called sinus histiocytosis with massive lymphadenopathy) involves lymph nodes or lymph nodes with extranodal sites. We present a unique case of a patient presenting with a breast mass and axillary lymphadenopathy, mimicking malignancy clinically and radiographically. Core needle biopsies of the breast and axillary lymph node showed histologic features concerning the lymphoma. However, excisional biopsy specimen demonstrated characteristic features of Rosai-Dorfman disease. The disease recurred locally 6 months later in the same breast, 1 month later in the contralateral breast, and 11 month later in the subcutaneous tissue of left flank. A review of the literature of Rosai-Dorfman disease involving the breast is also presented.
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PMID:Rosai-Dorfman disease presenting as a breast mass and enlarged axillary lymph node mimicking malignancy: a case report and review of the literature. 2176 47

Sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman disease) is a rare benign disease of unknown etiology presenting with massive lymphadenopathy. These cases can often be misdiagnosed as lymphoma. Hence, it is important to distinguish Rosai-Dorfman disease from lymphoma and other causes of histiocytosis because of the different treatment modalities. We report here a case of Rosai-Dorfman presenting with massive bilateral cervical lymphadenopathy. We conclude that fine needle aspiration cytology is a useful and reliable tool for the diagnosis of Rosai-Dorfman disease due to which biopsy can be avoided in these patients, thus, reducing inconvenience to patients.
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PMID:Diagnosis of sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman Disease) by fine needle aspiration cytology. 2193 60


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