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Leukemia & Lymphoma Jun 1992To date, the morphological aspects of sinus histiocytosis with massive lymphadenopathy (SHML) have been fully described. The disease is characterized by an enlargement... (Review)
Review
To date, the morphological aspects of sinus histiocytosis with massive lymphadenopathy (SHML) have been fully described. The disease is characterized by an enlargement of lymph nodes in which the sinuses are dilated and infiltrated by histiocytes, often phagocytosing lymphocytes. Even if the prognosis is usually benign and not requiring therapy, several fatal cases have been reported. The etiology is still obscure and the biology is not yet completely clear. Recent immunophenotypical studies suggest that histiocytes may belong to the T-zone associated histiocyte lineage. They may be cytologically homogeneous, but can express different antigenic patterns according to their stage of differentiation. Cytogenetic and molecular aspects of the disease have only been sporadically investigated. In order to better understand the pathogenesis of SHML, which seems to be a disorder lying in between the fields of infections, immunological disease and neoplasia, it is considered very useful to systematically employ a variety of immunophenotypical, cytogenetic and molecular techniques to study the disease, particularly in cases which are clinically atypical or with a more aggressive evolution.
Topics: Antigens, CD; Diagnosis, Differential; Histiocytosis, Sinus; Humans; Immunophenotyping
PubMed: 1477647
DOI: 10.3109/10428199209053622 -
Pediatric Radiology 1990Sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman disease) is a unique disease of unknown etiology with a childhood predilection. Reports have established... (Review)
Review
Sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman disease) is a unique disease of unknown etiology with a childhood predilection. Reports have established the worldwide distribution of the disorder. Although peripheral lymphadenopathy is the most common mode of presentation, numerous studies and individual case reports have established the fact that 30-40% of affected individuals have extranodal manifestations particularly in the head and neck region where the adenopathy tends to be concentrated. As yet, the pathogenesis of SHML has not been established but speculation relates the disorder to an aberrant response to an unspecified antigen, possibly an infectious organism. Because of the clinical manifestations, the radiographic features of SHML are not pathognomonic but rather engender a differential diagnosis which includes lymphomatous, pseudolymphomatous and infectious conditions. Appropriate imaging of patients with SHML depends upon presenting symptoms and signs. Radionuclide bone scanning may be helpful in the evaluation of suspected skeletal lesions or joint symptoms. Gallium scanning is often positive in nodal disease and CT, MRI and sonography are helpful in the evaluation of extranodal sites of involvement such as the orbit, eyelid, upper aero-digestive tract and retroperitoneum.
Topics: Adolescent; Adult; Child; Female; Histiocytosis, Sinus; Humans; Male; Tomography, X-Ray Computed
PubMed: 2202971
DOI: 10.1007/BF02075199 -
Blood Jun 2018Rosai-Dorfman-Destombes disease (RDD) is a rare non-Langerhans cell histiocytosis characterized by accumulation of activated histiocytes within affected tissues. RDD,... (Review)
Review
Rosai-Dorfman-Destombes disease (RDD) is a rare non-Langerhans cell histiocytosis characterized by accumulation of activated histiocytes within affected tissues. RDD, which now belongs to the R group of the 2016 revised histiocytosis classification, is a widely heterogeneous entity with a range of clinical phenotypes occurring in isolation or in association with autoimmune or malignant diseases. Recent studies have found , , , and mutations in lesional tissues, raising the possibility of a clonal origin in some forms of RDD. More than 1000 reports have been published in the English literature; however, there is a lack of consensus regarding approach for the clinical management of RDD. Although in most cases RDD can be observed or treated with local therapies, some patients with refractory or multifocal disease experience morbidity and mortality. Here we provide the first consensus multidisciplinary recommendations for the diagnosis and management of RDD. These recommendations were discussed at the 32nd Histiocyte Society Meeting by an international group of academic clinicians and pathologists with expertise in RDD. We include guidelines for clinical, laboratory, pathologic, and radiographic evaluation of patients with RDD together with treatment recommendations based on clinical experience and review of the literature.
Topics: Adrenal Cortex Hormones; Biopsy; Disease Management; Genetic Predisposition to Disease; Histiocytes; Histiocytosis, Sinus; Humans; Immunotherapy; Mutation; Practice Guidelines as Topic; Prognosis; Radiotherapy
PubMed: 29720485
DOI: 10.1182/blood-2018-03-839753 -
Seminars in Diagnostic Pathology Feb 1990This report reviews the clinical and pathologic features of 423 examples of sinus histiocytosis with massive lymphadenopathy (SHML) entered in a case registry, with... (Review)
Review
This report reviews the clinical and pathologic features of 423 examples of sinus histiocytosis with massive lymphadenopathy (SHML) entered in a case registry, with special emphasis on extranodal manifestations of the disease. The most common sites of extranodal involvement in this population are skin, upper respiratory tract, and bone. However, SHML also can occur in a variety of other sites, including the genitourinary system, lower respiratory tract, oral cavity, and soft tissues. Involvement of kidney, lower respiratory tract, or liver was found to be a poor prognostic sign, and patients with associated immunologic disease often fared poorly. In general, prognosis has been found to correlate both with the number of nodal groups and with the number of extranodal systems involved by SHML. A complete bibliography of publications describing patients with SHML is included, and illustrations of the clinical, histopathologic, and radiographic features of the disease are provided.
Topics: Adolescent; Adult; Aged; Bone and Bones; Child; Child, Preschool; Digestive System; Eye; Female; Histiocytosis, Sinus; Humans; Infant; Infant, Newborn; Lymph Nodes; Male; Middle Aged; Registries; Respiratory System; Skin
PubMed: 2180012
DOI: No ID Found -
Seminars in Diagnostic Pathology Feb 1990The available information on treatment of sinus histiocytosis with massive lymphadenopathy (SHML) was reviewed. Treatment is not necessary in most instances, but some... (Review)
Review
The available information on treatment of sinus histiocytosis with massive lymphadenopathy (SHML) was reviewed. Treatment is not necessary in most instances, but some patients may require surgery, radiation therapy, and/or chemotherapy because of severe disease manifestations. An ideal treatment has yet to be identified. Of the various chemotherapeutic regimens that have been tried so far, a combination of vinca alkaloid, alkylating agent, and corticosteroid appears to be the most effective.
Topics: Adrenal Cortex Hormones; Antineoplastic Agents; Drug Combinations; Histiocytosis, Sinus; Humans; Registries; Retrospective Studies
PubMed: 2180015
DOI: No ID Found -
American Journal of Clinical Pathology Jul 2023Rosai-Dorfman disease (RDD) is one of 3 major types of histiocytosis, along with Erdheim-Chester disease and Langerhans cell histiocytosis. While historically, RDD was...
OBJECTIVES
Rosai-Dorfman disease (RDD) is one of 3 major types of histiocytosis, along with Erdheim-Chester disease and Langerhans cell histiocytosis. While historically, RDD was considered a benign self-limited condition, current data show MAPK/ERK pathway mutations in 30% to 50% of cases, indicative of a clonal process. Rosai-Dorfman disease was incorporated as a histiocytic neoplasm in the fifth edition of the World Health Organization classification of hematopoietic tumors and the International Consensus Classification.
METHODS
We discuss the diagnosis of RDD using 2 illustrative cases, interpretative challenges, and a diagnostic algorithm.
RESULTS
Rosai-Dorfman disease involves nodal and extranodal sites, including skin, sinuses, salivary gland, orbit, central nervous system, kidney, and bone. In a subset, RDD can coexist with other neoplasms (lymphomas, other histiocytosis) or autoimmune disease. Morphologically, RDD histiocytes are characterized by enlarged round to oval nuclei, distinct nucleoli, and voluminous cytoplasm with engulfment of inflammatory cells (emperipolesis). By immunohistochemistry, they express CD68, CD163 (majority), S100, OCT2, and cyclin D1. Appropriate use of ancillary studies is important to support the diagnosis of RDD while excluding other histiocytic neoplasms and reactive histiocytic proliferations.
CONCLUSIONS
Management of RDD is dependent on the extent of organ involvement and clinical symptoms. In patients who require therapy, next-generation sequencing is recommended to identify MAPK/ERK pathway mutations for targeted therapy.
Topics: Humans; Histiocytosis, Sinus; Histiocytes; Immunohistochemistry; Erdheim-Chester Disease; Mutation; Hematologic Neoplasms
PubMed: 37167084
DOI: 10.1093/ajcp/aqad047 -
Seminars in Diagnostic Pathology Feb 1990Histochemical and immunohistochemical studies have been reported in only a few cases of sinus histiocytosis with massive lymphadenopathy (SHML) to date. These indicate... (Review)
Review
Histochemical and immunohistochemical studies have been reported in only a few cases of sinus histiocytosis with massive lymphadenopathy (SHML) to date. These indicate that SHML cells belong to the macrophage/histiocyte family, but their exact origin is still unknown. We determined the antigenic phenotype of SHML cells in sections from 20 cases of routinely fixed, paraffin-embedded tissue and from two cases of fresh frozen tissue using a broad panel of antibodies to macrophage/histocyte, B-, and T-cell antigens. SHML cells expressed the following: (1) S-100 protein, (2) "pan-macrophage" antigens such as EBM11, HAM 56, and Leu-M3, (3) antigens functionally associated with phagocytosis (Fc receptor for IgG, complement receptor 3), and lysosomal activity (lysozyme, alpha 1-antichymotrypsin, and alpha 1-antitrypsyn), (4) antigens associated with early inflammation (Mac-387, 27E10), (5) antigens commonly found on monocytes, but not tissue macrophages (OKM5, Leu-M1), and (6) "activation" antigens (Ki-1 and receptors for transferrin and interleukin 2). These data suggest that SHML cells are true functionally activated macrophages that may be recently derived from circulating monocytes.
Topics: Antigens, Differentiation; Histiocytosis, Sinus; Humans; Immunologic Techniques; Phenotype; Registries
PubMed: 2180014
DOI: No ID Found -
Pancreas Apr 2019
Review
Topics: Aged; Diagnosis, Differential; Female; Histiocytosis, Sinus; Humans; Lymph Nodes; Pancreas; Pancreatic Diseases
PubMed: 30973472
DOI: 10.1097/MPA.0000000000001292 -
Archives of Pathology & Laboratory... Jul 2007This article provides an overview of the major pathologic manifestations of sinus histiocytosis with massive lymphadenopathy, including patient characteristics and... (Review)
Review
CONTEXT
This article provides an overview of the major pathologic manifestations of sinus histiocytosis with massive lymphadenopathy, including patient characteristics and current knowledge about its pathogenesis, with an emphasis on multifocal and extranodal presentation. Sinus histiocytosis with massive lymphadenopathy is a rare, nonneoplastic, idiopathic, proliferative histiocytic disorder; recognition of this disorder is important to avoid misinterpretation and subsequent unnecessary treatment. This is especially true for primary extranodal manifestation of this rare disorder. Although accurate diagnosis of this entity requires a correlation of clinical, radiologic, laboratory, and pathologic studies in most cases, it remains a disorder primarily defined by its histopathologic features and pathologic manifestations, which are key to the diagnosis.
OBJECTIVE
To summarize the scientific literature, provide a concise review, and emphasize the diagnostic histopathologic features of extranodal sinus histiocytosis with massive lymphadenopathy.
DATA SOURCES
A comprehensive literature review was undertaken to summarize the clinical and pathologic features of this disorder.
CONCLUSIONS
Sinus histiocytosis with massive lymphadenopathy is characterized by a rare, acquired, nonmalignant proliferation of distinctive histiocytes that present with lymphadenopathy or extranodal disease, primarily in children and young adults. It exhibits a broad range of clinical presentations, thus eliciting a wide differential diagnosis. The diverse clinical manifestations and frequent association with subtle or severe immunologic abnormalities suggest an immune-mediated cause. Additional studies are needed to characterize the interplay between death receptors and cytotoxic mediators and to further elucidate the loss of immune hemostasis that may underlie idiopathic histiocytic proliferations such as this.
Topics: Antigens, CD; Bone and Bones; Histiocytes; Histiocytosis, Sinus; Humans; Lymphatic Diseases; Radiography
PubMed: 17617001
DOI: 10.5858/2007-131-1117-MESHWM -
Archives of Disease in Childhood Apr 1992Sinus histiocytosis with massive lymphadenopathy is a well recognised, but rare cause of lymphadenopathy in the first decade of life. Three cases presenting with nodal...
Sinus histiocytosis with massive lymphadenopathy is a well recognised, but rare cause of lymphadenopathy in the first decade of life. Three cases presenting with nodal disease are described. The eyelids were involved in one case. The clinical, laboratory, and biopsy findings are discussed and compared with previously reported cases.
Topics: Child; Child, Preschool; Eyelid Diseases; Female; Histiocytosis, Sinus; Humans; Infant; Lymphatic Diseases; Male; Platelet Count; Thrombocytosis
PubMed: 1580684
DOI: 10.1136/adc.67.4.521