|
|
| Line 35: |
Line 35: |
| |Subtype(s) | | |Subtype(s) |
| |Rosai-Dorfman Disease | | |Rosai-Dorfman Disease |
| |}
| |
|
| |
| ==Definition / Description of Disease==
| |
|
| |
| Rosai–Dorfman disease (RDD) is rare histiocytic disorder characterized by nodal or extranodal accumulation of S100-positive histiocytes/macrophages with emperipolesis.<span style="color:#0070C0">(''Instructions: Brief description of approximately one paragraph - include disease context relative to other WHO classification categories, diagnostic criteria if applicable, and differential diagnosis if applicable. Other classifications can be referenced for comparison.'')</span>
| |
|
| |
| ==Synonyms / Terminology==
| |
|
| |
| Rosai–Dorfman disease (RDD) <span style="color:#0070C0">(''Instructions: Include currently used terms and major historical ones, adding “(historical)” after the latter.'') </span>
| |
|
| |
| ==Epidemiology / Prevalence==
| |
|
| |
| Rare, occurs in people of all ethnicity, more common in African descent with male predilection. Exception is cutaneous RDD which is more common in Asian women. Nodal RDD occurs in 2nd-3rd decades of life whereas extranodal occurs later in 5th decade. Rare inherited disorders associated with germline mutations in the nucleoside transporter gene ''SLC29A3'' (H syndrome / Faisalabad histiocytosis), and FAS deficiency with heterozygous germline mutations in ''FAS'' (''TNFRSF6'') (autoimmune lymphoproliferative syndrome) predispose to familial RDD.
| |
|
| |
| ==Clinical Features==
| |
|
| |
| Put your text here and fill in the table <span style="color:#0070C0">(''Instruction: Can include references in the table. Do not delete table.'') </span>
| |
| {| class="wikitable"
| |
| |'''Signs and Symptoms'''
| |
| |painless, slow-growing lymphadenopathy
| |
| B-symptoms may be present in 1/3rd of patients
| |
| |-
| |
| |'''Laboratory Findings'''
| |
| |<span class="blue-text">EXAMPLE:</span> Cytopenias
| |
|
| |
| <span class="blue-text">EXAMPLE:</span> Lymphocytosis (low level)
| |
| |}
| |
|
| |
| ==Sites of Involvement==
| |
|
| |
| Nodal: Cervical region lymph nodes.
| |
|
| |
| Extranodal: Mostly head and neck, skin, and CNS <span style="color:#0070C0">(''Instruction: Indicate physical sites; <span class="blue-text">EXAMPLE:</span> nodal, extranodal, bone marrow'') </span>
| |
|
| |
| ==Morphologic Features==
| |
|
| |
| Gross examination: Lymph nodes are enlarged and matted, might form multinodular masses.
| |
|
| |
| Histopathology:
| |
|
| |
| * Lymph nodes with sinus expansion shows RDD cells- distinctive large histiocytes with emperipolesis (the presence of intact lymphocytes, but also plasma cells, neutrophils, and erythrocytes within the histiocyte cytoplasm)
| |
| * Mixed infiltration by small B cells, T cells and numerous polytypic plasma cells.
| |
|
| |
| ==Immunophenotype==
| |
|
| |
| Put your text here and fill in the table <span style="color:#0070C0">(''Instruction: Can include references in the table. Do not delete table.'') </span>
| |
|
| |
| {| class="wikitable sortable"
| |
| |-
| |
| !Finding!!Marker
| |
| |-
| |
| |Positive (universal)||S100-highlights emperipolesis
| |
| OCT2, phosphorylated ERK and cyclin D1
| |
|
| |
| CD68 and CD163
| |
| |-
| |
| |Positive (subset)||<span class="blue-text">EXAMPLE:</span> CD2
| |
| |-
| |
| |Negative (universal)||CD1a and CD207 (langerin)
| |
| |-
| |
| |Negative (subset)||<span class="blue-text">EXAMPLE:</span> CD4
| |
| |} | | |} |
|
| |
|
| Line 357: |
Line 296: |
| ==Additional Information== | | ==Additional Information== |
|
| |
|
| Put your text here
| | This disease is <u>defined/characterized</u> as detailed below: |
| | |
| | * Rosai–Dorfman disease (RDD) is rare histiocytic disorder characterized by nodal or extranodal accumulation of S100-positive histiocytes/macrophages with emperipolesis. |
| | |
| | The <u>epidemiology/prevalence</u> of this disease is detailed below: |
| | |
| | * Rare, occurs in people of all ethnicity, more common in African descent with male predilection. Exception is cutaneous RDD which is more common in Asian women. Nodal RDD occurs in 2nd-3rd decades of life whereas extranodal occurs later in 5th decade. Rare inherited disorders associated with germline mutations in the nucleoside transporter gene ''SLC29A3'' (H syndrome / Faisalabad histiocytosis), and FAS deficiency with heterozygous germline mutations in ''FAS'' (''TNFRSF6'') (autoimmune lymphoproliferative syndrome) predispose to familial RDD. |
| | |
| | The <u>clinical features</u> of this disease are detailed below: |
| | |
| | Signs and symptoms - painless, slow-growing lymphadenopathy; B-symptoms may be present in 1/3 of patients |
| | |
| | The <u>sites of involvement</u> of this disease are detailed below: |
| | |
| | * Nodal: Cervical region lymph nodes. |
| | * Extranodal: Mostly head and neck, skin, and CNS |
| | |
| | The <u>morphologic features</u> of this disease are detailed below: |
| | |
| | * Gross examination: Lymph nodes are enlarged and matted, might form multinodular masses. |
| | * Histopathology: Lymph nodes with sinus expansion shows RDD cells - distinctive large histiocytes with emperipolesis (the presence of intact lymphocytes, but also plasma cells, neutrophils, and erythrocytes within the histiocyte cytoplasm); Mixed infiltration by small B cells, T cells and numerous polytypic plasma cells. |
| | |
| | The <u>immunophenotype</u> of this disease is detailed below: |
| | |
| | Positive (universal) - S100-highlights emperipolesis, OCT2, phosphorylated ERK and cyclin D1, CD68 and CD163 |
| | |
| | Negative (universal) - CD1a and CD207 (langerin) |
|
| |
|
| ==Links== | | ==Links== |
