Concomitant Occurrence of Sinus Histiocytosis With Massive Lymphadenopathy and Nodal Marginal Zone Lymphoma

2011 ◽  
Vol 135 (3) ◽  
pp. 390-393
Author(s):  
Changlee S Pang ◽  
David D Grier ◽  
Michael W Beaty
Keyword(s):  
Lymph Node ◽  
Marginal Zone ◽  
Lymphoproliferative Disorders ◽  
Marginal Zone Lymphoma ◽  
Sinus Histiocytosis ◽  
Unknown Etiology ◽  
Massive Lymphadenopathy ◽  
Rosai Dorfman Disease ◽  
Children And Young Adults ◽  
Nodal Marginal Zone Lymphoma

Abstract 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.

Primary Pancreatic Sinus Histiocytosis With Massive Lymphadenopathy (Rosai-Dorfman Disease): An Unusual Extranodal Manifestation Clinically Simulating Malignancy

2010 ◽  
Vol 134 (2) ◽  
pp. 276-278 ◽  
Author(s):  
Mark Podberezin ◽  
Ronald Angeles ◽  
Grace Guzman ◽  
David Peace ◽  
Sujata Gaitonde
Keyword(s):  
Adipose Tissue ◽  
Lymph Node ◽  
Unusual Case ◽  
Sinus Histiocytosis ◽  
Gastrointestinal System ◽  
Rare Entity ◽  
Massive Lymphadenopathy ◽  
Rosai Dorfman Disease

Abstract Sinus histiocytosis with massive lymphadenopathy (SHML), also called Rosai-Dorfman disease, is a rare entity. Its etiology and pathogenesis are still essentially unclear. The histologic hallmark of this disease is proliferation of distinctive histiocytes within lymph node sinuses and in extranodal sites. Approximately 23% of patients with SHML, documented in the SHML Registry, presented with disease primarily in extranodal sites, and very few cases of SHML (<1%) involving the gastrointestinal system have been described in the literature. We report an unusual case of primary pancreatic SHML with infiltration of the process into peripancreatic, perinephric, and perisplenic adipose tissue, simulating malignancy.

scholarly journals A case report of Rosai Dorfman disease

2018 ◽  
Vol 4 (3) ◽  
pp. 868
Author(s):  
Jyotika Waghray ◽  
Pradyut Waghray
Keyword(s):  
Lymph Node ◽  
Plasma Cells ◽  
Final Diagnosis ◽  
Needle Aspiration ◽  
Lymph Node Involvement ◽  
Unknown Etiology ◽  
Low Grade ◽  
Massive Lymphadenopathy ◽  
Rosai Dorfman Disease ◽  
Node Involvement

<p>Rosai-Dorfman’s disease also known as sinus histiocytosis with massive lymphadenopathy (SHML) is characterized by distorted lymph node architecture with marked dilation of lymphatic sinuses occupied by numerous lymphocytes, as well as histiocytes with vesicular nucleus and abundant clear cytoplasm with phagocytized lymphocytes or plasma cells, also known as ‘emperipolesis’. This disease of unknown etiology progresses with a benign prognosis strictly and only when an early diagnosis and treatment is made. A late diagnosis and a generalized lymph node involvement contribute to a poor prognosis. We reported a case of a 29-year-old Indian female with a 4-month history of painful unilateral cervical mass and low-grade fever with the final diagnosis of Rosai-Dorfman disease. The final diagnosis was made by fine needle aspiration (FNA) biopsy of the cervical lymph node. In conclusion, FNA biopsy can be enough to make the diagnosis in most cases due to the distinct cytological features of SHML, thereby avoiding more invasive approaches that potentially are unnecessary.</p>

scholarly journals HISTOCYTOPATHOLOGICAL DIAGNOSIS OF ROSAI-DORFMAN DISEASE: CASE REPORT AND LITERATURE REVIEW

2021 ◽  
Author(s):  
Zephania Abraham ◽  
Zerd Francis ◽  
Advera Ngaiza ◽  
Aveline Kahinga ◽  
Faustine Bukanu
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Sinus Histiocytosis ◽  
Unknown Etiology ◽  
Massive Lymphadenopathy ◽  
Rosai Dorfman Disease ◽  
Disease Case

Sinus histiocytosis with massive lymphadenopathy (Rosai–Dorfman disease) being a rare benign proliferative self-limiting disease of the cells of macrophage-histiocyte family is of unknown etiology and presents with massive lymphadenopathy. We are hereby reporting a case of RDD presenting with massive bilateral cervical and submandibular lymphadenopathy, diagnosed by histocytopathology.

TNFRSF6 (Fas Antigen) Mutations in Patients with Sinus Histiocytosis with Massive Lymphadenopathy (Rosai-Dorfman Disease).

Blood ◽  
2004 ◽  
Vol 104 (11) ◽  
pp. 2389-2389 ◽  
Author(s):  
Tracy I. George ◽  
Lisa Ma ◽  
Peter L. Nagy ◽  
Yasodha Natkunam ◽  
Roger A. Warnke ◽  
...  
Keyword(s):  
Direct Sequencing ◽  
Donor Site ◽  
Sinus Histiocytosis ◽  
Splice Donor Site ◽  
Unknown Etiology ◽  
Splice Donor ◽  
Apoptotic Pathway ◽  
Fas Antigen ◽  
Massive Lymphadenopathy ◽  
Rosai Dorfman Disease

Abstract Sinus histiocytosis with massive lymphadenopathy (SHML or Rosai-Dorfman disease) is a rare histiocytic proliferation of unknown etiology. There is a known association between SHML and immune disorders. Recently, histologic changes of SHML have been found in lymph nodes of patients with autoimmune lymphoproliferative syndrome (ALPS), a disorder most commonly associated with mutations in the TNFRSF6 gene that encodes the Fas antigen. We retrospectively analyzed tissue from 22 patients with SHML for TNFRSF6 gene mutations using isolated genomic DNA from paraffin-embedded tissue followed by screening of PCR products for the promoter regions and all exons (1–9) of the gene for possible mutation by high performance liquid chromatography. Mutations were confirmed by direct sequencing. We identified six patients (27%) with SHML and mutations of the TNFRSF6 gene as listed below, including three cases (14%) with potentially significant mutations (*) involving promotor and splice donor regions, and frameshift mutations. The samples with mutations had a 4:2 male:female ratio with a mean/median age of 39/43 years (range 7–68 years) compared to a 9:7 male:female ratio, mean/median age of 42/43 years (range 12–76 years) for the non-mutated samples. No differences in site of disease were identified in the mutated versus non-mutated groups. None of the samples had morphologic features to suggest ALPS. These results suggest that at least a subset of cases of SHML are associated with disruption of the Fas apoptotic pathway. Additional study of other components of the apoptotic pathway may be warranted in this disease. Cases with TNFRSF6 mutations. Case No. Nucleotide Change Localization Codon Amino acid change **Numbering for the promoter sequence, according to www.mutationdiscovery.com. All other numbering according to GeneBank accession number M67454. 1 c217+34A&gt;G Intron 7 c217+40A&gt;G Intron 7 2 T779C Exon 7 195 Val --&gt; Ala 3 c217+1G&gt;A Intron 7 Splice defect* T763C Exon 7 190 Val --&gt; Ala c217+182A&gt;G Intron 7 c217+183A&gt;G Intron 7 C1425T Exon 9II 3′UTR * 4 597del T Exon 4 135 Frameshift* 5 T/C 4656** Promoter * c189+4A&gt;T Intron 6 5′ consensus splice donor site* C729T Exon 6 179 Leu --&gt; Phe 6 c218-84A&gt;G Intron 7

scholarly journals Rosai-Dorfman Disease

2014 ◽  
Vol 6 (3) ◽  
pp. 121-122
Author(s):  
Sushant Joshi
Keyword(s):  
Cervical Lymphadenopathy ◽  
Sinus Histiocytosis ◽  
Treatment Modalities ◽  
Unknown Etiology ◽  
Neck Swelling ◽  
Massive Lymphadenopathy ◽  
Benign Disorder ◽  
Rosai Dorfman Disease

ABSTRACT Rosai-Dorfman disease also known as sinus histiocytosis with massive lymphadenopathy is a rare benign disorder of unknown etiology, which present most commonly as bilateral massive lymphadenopathy of neck associated with fever. These cases are frequently misdiagnosed as lymphoma, and thus it is important to distinguish Rosai-Dorfman disease from other causes of neck swelling because of different treatment modalities. We report here a case of Rosai-Dorfman disease presenting with massive right cervical lymphadenopathy. How to cite this article Joshi S. Rosai-Dorfman Disease. Int J Otorhinolaryngol Clin 2014;6(3):121-122.

scholarly journals Simultaneous Occurrence of Rosai–Dorfman Disease and Nodal Marginal Zone Lymphoma in a Patient with Sjögren’s Syndrome

2018 ◽  
Vol 2018 ◽  
pp. 1-7
Author(s):  
Vadim R. Gorodetskiy ◽  
Wolfram Klapper ◽  
Natalya A. Probatova ◽  
Vladimir I. Vasilyev ◽  
Elena V. Rozhnova
Keyword(s):  
B Cell ◽  
Marginal Zone ◽  
Cell Lymphoma ◽  
B Cell Lymphoma ◽  
Sjogren’S Syndrome ◽  
Sjogren's Syndrome ◽  
Marginal Zone Lymphoma ◽  
Rosai Dorfman Disease ◽  
Nodal Marginal Zone Lymphoma ◽  
Sjögren‘S Syndrome

We present an exceptionally rare case of co-occurrence of Rosai–Dorfman disease (RDD) and nodal marginal zone lymphoma (NMZL) in a 60-year-old Caucasian female with a 20-year course of Sjögren’s syndrome (SS). In response to treatment for lymphoma, the patient presented a short positive response, followed by a rapid progression of the disease accompanied by the development of the peripheral facial nerve palsy. We failed to detect Epstein–Barr virus (EBV) in the NMZL/RDD sample by EBV-encoded RNA (EBER) in situ hybridization but identified genomic DNA of EBV by polymerase chain reaction. A second biopsy revealed EBV-positive diffuse large B-cell lymphoma (DLBCL), not otherwise specified. The identical clonal immunoglobulin heavy chain gene rearrangements in the NMZL and DLBCL pointed to their clonal relationship. Though the role of EBV in the pathogenesis of some lymphomas is well-known, there have been only few cases of EBV-induced transformation of low-grade B-cell lymphoma into high-grade lymphoma and no cases of a patient with an NMZL background. To our knowledge, this is the first report of a concomitant occurrence of RDD and NMZL in a SS patient.

Molecular Lesions Of Signalling Pathway Genes In Indolent B-Cell Lymphoproliferations Mimicking Splenic Marginal Zone Lymphoma

Blood ◽  
2013 ◽  
Vol 122 (21) ◽  
pp. 4250-4250 ◽  
Author(s):  
Davide Rossi ◽  
Alessio Bruscaggin ◽  
Sara Monti ◽  
Stefania Cresta ◽  
Rosella Famà ◽  
...  
Keyword(s):  
Lymph Node ◽  
Cell Differentiation ◽  
B Cell ◽  
Plasma Cell ◽  
Marginal Zone ◽  
Lymphoproliferative Disorders ◽  
Marginal Zone Lymphoma ◽  
Splenic Marginal Zone Lymphoma ◽  
Plasma Cell Differentiation ◽  
Monoclonal Component

Abstract Background Almost 60% cases of splenic marginal zone lymphoma (SMZL) cases harbor molecular lesions affecting signalling pathways involved in normal marginal zone (MZ) differentiation, including the NOTCH pathway, the NF-kB pathway, the toll-like receptor (TLR) pathway and the B-cell receptor (BCR) pathway. However, little is known with regard to these lesions in other indolent B-cell lymphoproliferative disorders mimicking SMZL. Methods Candidate gene mutations (NOTCH2, NOTCH1, BIRC3, TNFAIP3, TRAF3, IKBKB, MYD88, CD79A, CD79B, CARD11) were investigated in 60 indolent B-cell lymphoproliferative disorders, including nodal marginal zone lymphoma (NMZL=33), monoclonal B-cell lymphocytosis showing a MZL-like phenotype (MZL-like MBL=16), and variant hairy cell leukemia (vHCL=11). In all cases, tumor representation was >50% in order to allow the detection of clonal lesions. All cases lacked the BRAF V600E mutation as assessed by AS-PCR. Results Overall, the genetics of NMZL and MZL-like MBL was consistent with that of SMZL, suggesting the involvement of a common oncogenic pathway in these disorders. Among NMZL, 51% (17/33) of cases were characterized by mutually exclusive genetic lesions affecting MZ differentiation genes, including NOTCH2 stabilizing mutations in 24% (8/33) of cases, TNFAIP3 disrupting mutations in 12% (4/33), MYD88 activating mutations in 12% (4/33), and NOTCH1, TRAF3 and BIRC3 mutations in 3% (1/33) of cases each. Among MZL-like MBL, 37% (6/16) of cases harbored mutually exclusive lesions of MZ genes, including MYD88 mutations in 25% (4/16) of cases, NOTCH2 mutations in 12% (2/16), and TNFAIP3 and CD79B mutations in 6% (1/16) of cases each. On the contrary, all cases (n=11) of vHCL lacked mutations of NOTCH, NF-kB, TLR or BCR genes, suggesting that none of these signaling pathways plays a relevant role in this disease. Among NMZL, MYD88 mutations were enriched among cases harboring an IgM type monoclonal component (3/4, 75% vs 1/18, 5%, p=.010) and showing cytological clues of plasma cell differentiation of lymph node tumor cells (3/6, 50% vs 0/9; p=.040). NOTCH2 mutations did not correlate with any pathologic feature (i.e. lymph node pattern of infiltration, presence of monocytoid B cells, immunoglobulin gene usage or mutation status). Among MZL-like MBL, neither MYD88 mutations nor NOTCH2 mutations correlated with specific clinico-pathologic features (i.e. presence of an IgM type monoclonal component, intrasinusoidal bone marrow infiltration, plasma cell differentiation). Conclusions These data suggest that: i) SMZL, NMZL and MZL-like MBL share a similar genotype and are all promoted by the same molecular deregulation of MZ differentiation genes; and ii) vHCL stands as a genetically different entity among indolent B-cell lymphoproliferations. These data might help to refine the differential diagnosis of indolent B-cell lymphoproliferations mimicking SMZL. Disclosures: No relevant conflicts of interest to declare.

Sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman disease): a rare case of subglottic narrowing

1992 ◽  
Vol 106 (1) ◽  
pp. 61-62 ◽  
Author(s):  
R. G. Courteney-Harris ◽  
M. J. Goddard
Keyword(s):  
Lymph Node ◽  
Airway Obstruction ◽  
Rare Case ◽  
Lymph Node Biopsy ◽  
Sinus Histiocytosis ◽  
Massive Lymphadenopathy ◽  
Node Biopsy ◽  
Rosai Dorfman Disease

AbstractA case of subglottic narrowing caused by an extranodal deposit of sinus histiocytosis in an eight-year-old child with Rosai-Dorfman disease is presented. The airway obstruction was initially managed with a tracheostomy, and then on confirmation of the diagnosis by lymph node biopsy, by excision of the extranodal deposit with a CO2 bronchoscopic laser.

scholarly journals Metachronous Nodal and Nasal Rosai-Dorfman Disease presenting with Chronic Renal Failure

2013 ◽  
Vol 6 (3) ◽  
pp. 139-143 ◽  
Author(s):  
Shubha P Bhat ◽  
HL Kishan Prasad ◽  
B Satheesh Kumar Bhandary ◽  
Shashidhar Baikunje ◽  
Vadisha Bhat
Keyword(s):  
Renal Failure ◽  
Lymph Node ◽  
Chronic Renal Failure ◽  
Nasal Cavity ◽  
Cervical Lymph Node ◽  
Massive Lymphadenopathy ◽  
Rosai Dorfman Disease ◽  
Lymph Node Enlargement ◽  
Nodular Lesions ◽  
Children And Young Adults

ABSTRACT Rosai-Dorfman disease (RDD) is an uncommon non-neoplastic lymphoproliferative disorder. It usually manifests as bilateral, painless, massive cervical lymph node enlargement in children and young adults, hence the name sinus histiocytosis with massive lymphadenopathy. Extranodal involvement is observed in 25 to 40% of cases. Involvement of nasal cavity is rare and those presenting with renal failure are exceptional. We report a rare case of 16-year-old boy who was diagnosed as a case of RDD of cervical lymph node before 6 years, now presenting with nodular lesions in the nasal cavity and features of renal failure. The nasal lesion was confirmed to be RDD histologically. How to cite this article Bhat SP, Prasad HLK, Bhandary BSK, Baikunje S, Bhat V. Metachronous Nodal and Nasal Rosai Dorfman Disease presenting with Chronic Renal Failure. Clin Rhinol An Int J 2013;6(3):139-143.

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