HAEM5:Rosai-Dorfman Disease: Difference between revisions - Compendium of Cancer Genome Aberrations

Line 298:

This disease is defined/characterized as detailed below:

* Rosai–Dorfman disease (RDD) is rare histiocytic disorder characterized by nodal or extranodal accumulation of S100-positive histiocytes/macrophages with emperipolesis.

*Rosai–Dorfman disease (RDD) is rare histiocytic disorder characterized by nodal or extranodal accumulation of S100-positive histiocytes/macrophages with emperipolesis<ref name=":0">John Chan, et al., Rosai-Dorfman disease, in WHO Classification of Tumours Editorial Board, eds, WHO Classification of Tumours, Haematolymphoid Tumours Part A. 5th edition, IARC Press:Lyon, 2024.</ref>.

The epidemiology/prevalence 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.

*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<ref name=":0" />.

The clinical features of this disease are detailed below:

Signs and symptoms - painless, slow-growing lymphadenopathy; B-symptoms may be present in 1/3 of patients

Signs and symptoms - painless, slow-growing lymphadenopathy; B-symptoms may be present in 1/3 of patients<ref name=":0" />

The sites of involvement of this disease are detailed below:

* Nodal: Cervical region lymph nodes.

*Nodal: Cervical region lymph nodes<ref name=":0" />

* Extranodal: Mostly head and neck, skin, and CNS

*Extranodal: Mostly head and neck, skin, and CNS<ref name=":0" />

The morphologic features of this disease are detailed below:

* Gross examination: Lymph nodes are enlarged and matted, might form multinodular masses.

*Gross examination: Lymph nodes are enlarged and matted, might form multinodular masses<ref name=":0" />.

* 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.

*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<ref name=":0" />.

The immunophenotype of this disease is detailed below:

Positive (universal) - S100-highlights emperipolesis, OCT2, phosphorylated ERK and cyclin D1, CD68 and CD163

Positive (universal) - S100-highlights emperipolesis, OCT2, phosphorylated ERK and cyclin D1, CD68 and CD163<ref name=":0" />

Negative (universal) - CD1a and CD207 (langerin)

Negative (universal) - CD1a and CD207 (langerin)<ref name=":0" />

==Links==

Line 329:

Put a link here or anywhere appropriate in this page (''Instructions: Highlight the text to which you want to add a link in this section or elsewhere, select the "Link" icon at the top of the wiki page, and search the name of the internal page to which you want to link this text, or enter an external internet address by including the "<nowiki>http://www</nowiki>." portion.'')

==References==

(use the "Cite" icon at the top of the page) (''Instructions: Add each reference into the text above by clicking where you want to insert the reference, selecting the “Cite” icon at the top of the wiki page, and using the “Automatic” tab option to search by PMID to select the reference to insert. If a PMID is not available, such as for a book, please use the “Cite” icon, select “Manual” and then “Basic Form”, and include the entire reference. To insert the same reference again later in the page, select the “Cite” icon and “Re-use” to find the reference; DO NOT insert the same reference twice using the “Automatic” tab as it will be treated as two separate references. The reference list in this section will be automatically generated and sorted''''.''~~)~~ <references />

(use the "Cite" icon at the top of the page) (''Instructions: Add each reference into the text above by clicking where you want to insert the reference, selecting the “Cite” icon at the top of the wiki page, and using the “Automatic” tab option to search by PMID to select the reference to insert. If a PMID is not available, such as for a book, please use the “Cite” icon, select “Manual” and then “Basic Form”, and include the entire reference. To insert the same reference again later in the page, select the “Cite” icon and “Re-use” to find the reference; DO NOT insert the same reference twice using the “Automatic” tab as it will be treated as two separate references. The reference list in this section will be automatically generated and sorted''''.'' <references />

~~'''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==

@@ Line 298: / Line 298: @@
 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.
+*Rosai–Dorfman disease (RDD) is rare histiocytic disorder characterized by nodal or extranodal accumulation of  S100-positive histiocytes/macrophages with emperipolesis<ref name=":0">John Chan, et al., Rosai-Dorfman disease, in WHO Classification of Tumours Editorial Board, eds, WHO Classification of Tumours, Haematolymphoid Tumours Part A. 5th edition, IARC Press:Lyon, 2024.</ref>.
 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.
+*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<ref name=":0" />.
 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
+Signs and symptoms - painless, slow-growing lymphadenopathy; B-symptoms may be present in 1/3 of patients<ref name=":0" />
 The <u>sites of involvement</u> of this disease are detailed below:
-* Nodal: Cervical region lymph nodes.
+*Nodal: Cervical region lymph nodes<ref name=":0" />
-* Extranodal: Mostly head and neck, skin, and CNS
+*Extranodal: Mostly head and neck, skin, and CNS<ref name=":0" />
 The <u>morphologic features</u> of this disease are detailed below:
-* Gross examination: Lymph nodes are enlarged and matted, might form multinodular masses.
+*Gross examination: Lymph nodes are enlarged and matted, might form multinodular masses<ref name=":0" />.
-* 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.
+*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<ref name=":0" />.
 The <u>immunophenotype</u> of this disease is detailed below:
-Positive (universal) - S100-highlights emperipolesis, OCT2, phosphorylated ERK and cyclin D1, CD68 and CD163
+Positive (universal) - S100-highlights emperipolesis, OCT2, phosphorylated ERK and cyclin D1, CD68 and CD163<ref name=":0" />
-Negative (universal) - CD1a and CD207 (langerin)
+Negative (universal) - CD1a and CD207 (langerin)<ref name=":0" />
 ==Links==
@@ Line 329: / Line 329: @@
 Put a link here or anywhere appropriate in this page <span style="color:#0070C0">(''Instructions: Highlight the text to which you want to add a link in this section or elsewhere, select the "Link" icon at the top of the wiki page, and search the name of the internal page to which you want to link this text, or enter an external internet address by including the "<nowiki>http://www</nowiki>." portion.'')</span>
 ==References==
-(use the "Cite" icon at the top of the page) <span style="color:#0070C0">(''Instructions: Add each reference into the text above by clicking where you want to insert the reference, selecting the “Cite” icon at the top of the wiki page, and using the “Automatic” tab option to search by PMID to select the reference to insert. If a PMID is not available, such as for a book, please use the “Cite” icon, select “Manual” and then “Basic Form”, and include the entire reference. To insert the same reference again later in the page, select the “Cite” icon and “Re-use” to find the reference; DO NOT insert the same reference twice using the “Automatic” tab as it will be treated as two separate references. The reference list in this section will be automatically generated and sorted''</span><span style="color:#0070C0">''.''</span><span style="color:#0070C0">)</span> <references />
+(use the "Cite" icon at the top of the page) <span style="color:#0070C0">(''Instructions: Add each reference into the text above by clicking where you want to insert the reference, selecting the “Cite” icon at the top of the wiki page, and using the “Automatic” tab option to search by PMID to select the reference to insert. If a PMID is not available, such as for a book, please use the “Cite” icon, select “Manual” and then “Basic Form”, and include the entire reference. To insert the same reference again later in the page, select the “Cite” icon and “Re-use” to find the reference; DO NOT insert the same reference twice using the “Automatic” tab as it will be treated as two separate references. The reference list in this section will be automatically generated and sorted''</span><span style="color:#0070C0">''.''</span> <references />
-'''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==