HAEM5:Rosai-Dorfman Disease: Difference between revisions
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{{DISPLAYTITLE:Rosai-Dorfman Disease}} | {{DISPLAYTITLE:Rosai-Dorfman Disease}} | ||
[[HAEM5:Table_of_Contents|Haematolymphoid Tumours (WHO Classification, 5th ed.)]] | [[HAEM5:Table_of_Contents|Haematolymphoid Tumours (WHO Classification, 5th ed.)]] | ||
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==Primary Author(s)*== | ==Primary Author(s)*== | ||
Mayuri Shende, MBBS, DCP, FCPS, DNB, ASCP-SH CM | |||
Scott Turner, PhD<span style="color:#0070C0"> (''<span class="blue-text">EXAMPLE:</span>'' Jane Smith, PhD) </span> | |||
__TOC__ | __TOC__ | ||
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==Definition / Description of 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== | ==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== | ==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== | ==Clinical Features== | ||
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{| class="wikitable" | {| class="wikitable" | ||
|'''Signs and Symptoms''' | |'''Signs and Symptoms''' | ||
| | |painless, slow-growing lymphadenopathy | ||
B-symptoms may be present in 1/3rd of patients | |||
|- | |- | ||
|'''Laboratory Findings''' | |'''Laboratory Findings''' | ||
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==Sites of Involvement== | ==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== | ==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== | ==Immunophenotype== | ||
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!Finding!!Marker | !Finding!!Marker | ||
|- | |- | ||
|Positive (universal)|| | |Positive (universal)||S100-highlights emperipolesis | ||
OCT2, phosphorylated ERK and cyclin D1 | |||
CD68 and CD163 | |||
|- | |- | ||
|Positive (subset)||<span class="blue-text">EXAMPLE:</span> CD2 | |Positive (subset)||<span class="blue-text">EXAMPLE:</span> CD2 | ||
|- | |- | ||
|Negative (universal)|| | |Negative (universal)||CD1a and CD207 (langerin) | ||
|- | |- | ||
|Negative (subset)||<span class="blue-text">EXAMPLE:</span> CD4 | |Negative (subset)||<span class="blue-text">EXAMPLE:</span> CD4 | ||
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!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome | !Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome | ||
|- | |- | ||
| | |gain-of-function mutations | ||
| | |MAPK/ERK pathway | ||
|<span class="blue-text">EXAMPLE:</span> Increased cell growth and proliferation | |<span class="blue-text">EXAMPLE:</span> Increased cell growth and proliferation | ||
|- | |- | ||
| | |''KRAS'', ''NRAS'', ''MAP2K1'', ''ARAF'', ''CSF1R'', and (rarely) ''BRAF'' p.V600E | ||
|<span class="blue-text">EXAMPLE:</span> Cell cycle regulation | |<span class="blue-text">EXAMPLE:</span> Cell cycle regulation | ||
|<span class="blue-text">EXAMPLE:</span> Unregulated cell division | |<span class="blue-text">EXAMPLE:</span> Unregulated cell division | ||
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|<span class="blue-text">EXAMPLE:</span> Histone modification, chromatin remodeling | |<span class="blue-text">EXAMPLE:</span> Histone modification, chromatin remodeling | ||
|<span class="blue-text">EXAMPLE:</span> Abnormal gene expression program | |<span class="blue-text">EXAMPLE:</span> Abnormal gene expression program | ||
|} | |}<br /> | ||
==Genetic Diagnostic Testing Methods== | ==Genetic Diagnostic Testing Methods== | ||
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'''EXAMPLE Book''' | '''EXAMPLE Book''' | ||
# | #John Chan, et al., Rosai-Dorfman disease, in WHO Classification of Tumours Editorial Board. Haematolymphoid tumours. Lyon (France): International Agency for Research on Cancer; 2024. . (WHO classification of tumours series, 5th ed.; vol. 11). <nowiki>https://publications.iarc.who.int/637</nowiki>. | ||
==Notes== | ==Notes== | ||
<nowiki>*</nowiki>Primary authors will typically be those that initially create and complete the content of a page. If a subsequent user modifies the content and feels the effort put forth is of high enough significance to warrant listing in the authorship section, please contact the CCGA coordinators (contact information provided on the homepage). Additional global feedback or concerns are also welcome. | <nowiki>*</nowiki>Primary authors will typically be those that initially create and complete the content of a page. If a subsequent user modifies the content and feels the effort put forth is of high enough significance to warrant listing in the authorship section, please contact the CCGA coordinators (contact information provided on the homepage). Additional global feedback or concerns are also welcome. | ||
<nowiki>*</nowiki>''Citation of this Page'': “Rosai-Dorfman Disease”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/HAEM5:Rosai-Dorfman_Disease</nowiki>. | <nowiki>*</nowiki>''Citation of this Page'': “Rosai-Dorfman Disease”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/HAEM5:Rosai-Dorfman_Disease</nowiki>. | ||
[[Category:HAEM5]][[Category:DISEASE]][[Category:Diseases R]] | [[Category:HAEM5]] | ||
[[Category:DISEASE]] | |||
[[Category:Diseases R]] | |||