Changes

1,746 bytes removed ,  19:19, 3 September 2024
Undo revision 14875 by Bailey.Glen (talk)
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{{DISPLAYTITLE:Histiocytic sarcoma}}
 
{{DISPLAYTITLE:Histiocytic sarcoma}}
[[HAEM5:Table_of_Contents|Haematolymphoid Tumours (WHO Classification, 5th ed.)]]
+
[[HAEM5:Table_of_Contents|Haematolymphoid Tumours (5th ed.)]]
    
{{Under Construction}}
 
{{Under Construction}}
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}}</blockquote>
 
}}</blockquote>
   −
<span style="color:#0070C0">(General Instructions – The main focus of these pages is the clinically significant genetic alterations in each disease type. Use [https://www.genenames.org/ <u>HUGO-approved gene names and symbols</u>] (italicized when appropriate), [https://varnomen.hgvs.org/ HGVS-based nomenclature for variants], as well as generic names of drugs and testing platforms or assays if applicable. Please complete tables whenever possible and do not delete them (add N/A if not applicable in the table and delete the examples); to add (or move) a row or column to a table, click nearby within the table and select the > symbol that appears to be given options. Please do not delete or alter the section headings. The use of bullet points alongside short blocks of text rather than only large paragraphs is encouraged. Additional instructions below in italicized blue text should not be included in the final page content. Please also see </span><u>[[Author_Instructions]]</u><span style="color:#0070C0"> and [[Frequently Asked Questions (FAQs)|<u>FAQs</u>]] as well as contact your [[Leadership|<u>Associate Editor</u>]] or [mailto:CCGA@cancergenomics.org <u>Technical Support</u>])</span>
+
<span style="color:#0070C0">(General Instructions – The main focus of these pages is the clinically significant genetic alterations in each disease type. Use [https://www.genenames.org/ <u>HUGO-approved gene names and symbols</u>] (italicized when appropriate), [https://varnomen.hgvs.org/ HGVS-based nomenclature for variants], as well as generic names of drugs and testing platforms or assays if applicable. Please complete tables whenever possible and do not delete them (add N/A if not applicable in the table and delete the examples). Please do not delete or alter the section headings. The use of bullet points alongside short blocks of text rather than only large paragraphs is encouraged. Additional instructions below in italicized blue text should not be included in the final page content. Please also see </span><u>[[Author_Instructions]]</u><span style="color:#0070C0"> and [[Frequently Asked Questions (FAQs)|<u>FAQs</u>]] as well as contact your [[Leadership|<u>Associate Editor</u>]] or [mailto:CCGA@cancergenomics.org <u>Technical Support</u>])</span>
    
==Primary Author(s)*==
 
==Primary Author(s)*==
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==Clinical Features==
 
==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>
+
Put your text here and fill in the table <span style="color:#0070C0">(''Instruction: Can include references in the table'') </span>
 
{| class="wikitable"
 
{| class="wikitable"
 
|'''Signs and Symptoms'''
 
|'''Signs and Symptoms'''
|<span class="blue-text">EXAMPLE:</span> Asymptomatic (incidental finding on complete blood counts)
+
|EXAMPLE Asymptomatic (incidental finding on complete blood counts)
   −
<span class="blue-text">EXAMPLE:</span> B-symptoms (weight loss, fever, night sweats)
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EXAMPLE B-symptoms (weight loss, fever, night sweats)
   −
<span class="blue-text">EXAMPLE:</span> Fatigue
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EXAMPLE Fatigue
   −
<span class="blue-text">EXAMPLE:</span> Lymphadenopathy (uncommon)
+
EXAMPLE Lymphadenopathy (uncommon)
 
|-
 
|-
 
|'''Laboratory Findings'''
 
|'''Laboratory Findings'''
|<span class="blue-text">EXAMPLE:</span> Cytopenias
+
|EXAMPLE Cytopenias
   −
<span class="blue-text">EXAMPLE:</span> Lymphocytosis (low level)
+
EXAMPLE Lymphocytosis (low level)
 
|}
 
|}
      −
<blockquote class='blockedit'>{{Box-round|title=HAEM5 Conversion Notes|Content Update To WHO 5th Edition Classification Is In Process; Content Below is Based on WHO 4th Edition Classification}}
+
<blockquote class='blockedit'>{{Box-round|title=v4:Clinical Features|The content below was from the old template. Please incorporate above.}}
    
Patients with histiocytic sarcoma often present with systemic symptoms such as fatigue, weight loss and fever. Additional clinical manifestations are often related to site(s) of disease involvement. Some patients may come to clinical attention with a palpable mass or from organ compression by the malignant mass. Skin lesions may range from a minor rash to multiple tumors on the trunk and extremities. Gastrointestinal involvement may present with intestinal obstruction. Lytic lesions may arise from bone involvement. Hepatosplenomegaly is also described. Cytopenias are found in about a third of patients, with hemophagocytosis seen on bone marrow evaluation in a small fraction of patients. Additionally, histiocytic sarcoma may present in the setting of another hematologic neoplasm such as follicular lymphoma, acute myeloid leukemia, acute lymphoblastic leukemia, mantle cell lymphoma, hairy cell leukemia, chronic lymphocytic leukemia or MALT lymphoma. <ref name=":1" /><ref name=":3" /><ref>{{Cite journal|last=Zhang|first=Da|last2=McGuirk|first2=Joseph|last3=Ganguly|first3=Siddhartha|last4=Persons|first4=Diane L.|date=2009-05|title=Histiocytic/dendritic cell sarcoma arising from follicular lymphoma involving the bone: a case report and review of literature|url=https://pubmed.ncbi.nlm.nih.gov/19343479|journal=International Journal of Hematology|volume=89|issue=4|pages=529–532|doi=10.1007/s12185-009-0300-y|issn=1865-3774|pmid=19343479}}</ref><ref name=":5">{{Cite journal|last=Hure|first=Michelle C.|last2=Elco|first2=Christopher P.|last3=Ward|first3=David|last4=Hutchinson|first4=Lloyd|last5=Meng|first5=Xiuling|last6=Dorfman|first6=David M.|last7=Yu|first7=Hongbo|date=2012-02-10|title=Histiocytic sarcoma arising from clonally related mantle cell lymphoma|url=https://pubmed.ncbi.nlm.nih.gov/22184374|journal=Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology|volume=30|issue=5|pages=e49–53|doi=10.1200/JCO.2011.38.8553|issn=1527-7755|pmid=22184374}}</ref><ref>{{Cite journal|last=Alvaro|first=T.|last2=Bosch|first2=R.|last3=Salvadó|first3=M. T.|last4=Piris|first4=M. A.|date=1996-11|title=True histiocytic lymphoma of the stomach associated with low-grade B-cell mucosa-associated lymphoid tissue (MALT)-type lymphoma|url=https://pubmed.ncbi.nlm.nih.gov/8898846|journal=The American Journal of Surgical Pathology|volume=20|issue=11|pages=1406–1411|doi=10.1097/00000478-199611000-00013|issn=0147-5185|pmid=8898846}}</ref><ref>{{Cite journal|last=Bouabdallah|first=R.|last2=Abéna|first2=P.|last3=Chetaille|first3=B.|last4=Aurran-Schleinitz|first4=T.|last5=Sainty|first5=D.|last6=Dubus|first6=P.|last7=Arnoulet|first7=C.|last8=Coso|first8=D.|last9=Xerri|first9=L.|date=2001-06|title=True histiocytic lymphoma following B-acute lymphoblastic leukaemia: case report with evidence for a common clonal origin in both neoplasms|url=https://pubmed.ncbi.nlm.nih.gov/11442501|journal=British Journal of Haematology|volume=113|issue=4|pages=1047–1050|doi=10.1046/j.1365-2141.2001.02841.x|issn=0007-1048|pmid=11442501}}</ref><ref>{{Cite journal|last=Castro|first=Eumenia C. C.|last2=Blazquez|first2=Cristina|last3=Boyd|first3=Jaime|last4=Correa|first4=Hernán|last5=de Chadarevian|first5=J.-P.|last6=Felgar|first6=Raymond E.|last7=Graf|first7=Nicole|last8=Levy|first8=Norman|last9=Lowe|first9=Eric J.|date=2010-05|title=Clinicopathologic features of histiocytic lesions following ALL, with a review of the literature|url=https://pubmed.ncbi.nlm.nih.gov/19642834|journal=Pediatric and Developmental Pathology: The Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society|volume=13|issue=3|pages=225–237|doi=10.2350/09-03-0622-OA.1|issn=1093-5266|pmid=19642834}}</ref><ref>{{Cite journal|last=Kumar|first=Riten|last2=Khan|first2=Shakila P.|last3=Joshi|first3=Divya-Devi|last4=Shaw|first4=Gene R.|last5=Ketterling|first5=Rhett P.|last6=Feldman|first6=Andrew L.|date=2011-02|title=Pediatric histiocytic sarcoma clonally related to precursor B-cell acute lymphoblastic leukemia with homozygous deletion of CDKN2A encoding p16INK4A|url=https://pubmed.ncbi.nlm.nih.gov/20973102|journal=Pediatric Blood & Cancer|volume=56|issue=2|pages=307–310|doi=10.1002/pbc.22810|issn=1545-5017|pmid=20973102}}</ref><ref>{{Cite journal|last=McClure|first=Rebecca|last2=Khoury|first2=Joseph|last3=Feldman|first3=Andrew|last4=Ketterling|first4=Rhett|date=2010-02|title=Clonal relationship between precursor B-cell acute lymphoblastic leukemia and histiocytic sarcoma: a case report and discussion in the context of similar cases|url=https://pubmed.ncbi.nlm.nih.gov/19744706|journal=Leukemia Research|volume=34|issue=2|pages=e71–73|doi=10.1016/j.leukres.2009.08.020|issn=1873-5835|pmid=19744706}}</ref><ref>{{Cite journal|last=Michonneau|first=David|last2=Kaltenbach|first2=Sophie|last3=Derrieux|first3=Coralie|last4=Trinquand|first4=Amelie|last5=Brouzes|first5=Chantal|last6=Gibault|first6=Laure|last7=North|first7=Marie-Odile|last8=Delarue|first8=Richard|last9=Varet|first9=Bruno|date=2014-12-10|title=BRAF(V600E) mutation in a histiocytic sarcoma arising from hairy cell leukemia|url=https://pubmed.ncbi.nlm.nih.gov/24567436|journal=Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology|volume=32|issue=35|pages=e117–121|doi=10.1200/JCO.2013.49.0078|issn=1527-7755|pmid=24567436}}</ref><ref>{{Cite journal|last=Shao|first=Haipeng|last2=Xi|first2=Liqiang|last3=Raffeld|first3=Mark|last4=Feldman|first4=Andrew L.|last5=Ketterling|first5=Rhett P.|last6=Knudson|first6=Ryan|last7=Rodriguez-Canales|first7=Jaime|last8=Hanson|first8=Jeffrey|last9=Pittaluga|first9=Stefania|date=2011-11|title=Clonally related histiocytic/dendritic cell sarcoma and chronic lymphocytic leukemia/small lymphocytic lymphoma: a study of seven cases|url=https://pubmed.ncbi.nlm.nih.gov/21666687|journal=Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc|volume=24|issue=11|pages=1421–1432|doi=10.1038/modpathol.2011.102|issn=1530-0285|pmc=3175277|pmid=21666687}}</ref> Association of HS with a germ cell tumor or autoimmune lymphoproliferative syndrome has also been described.<ref name=":13">{{Cite journal|last=Nichols|first=C. R.|last2=Roth|first2=B. J.|last3=Heerema|first3=N.|last4=Griep|first4=J.|last5=Tricot|first5=G.|date=1990-05-17|title=Hematologic neoplasia associated with primary mediastinal germ-cell tumors|url=https://pubmed.ncbi.nlm.nih.gov/2158625|journal=The New England Journal of Medicine|volume=322|issue=20|pages=1425–1429|doi=10.1056/NEJM199005173222004|issn=0028-4793|pmid=2158625}}</ref>
 
Patients with histiocytic sarcoma often present with systemic symptoms such as fatigue, weight loss and fever. Additional clinical manifestations are often related to site(s) of disease involvement. Some patients may come to clinical attention with a palpable mass or from organ compression by the malignant mass. Skin lesions may range from a minor rash to multiple tumors on the trunk and extremities. Gastrointestinal involvement may present with intestinal obstruction. Lytic lesions may arise from bone involvement. Hepatosplenomegaly is also described. Cytopenias are found in about a third of patients, with hemophagocytosis seen on bone marrow evaluation in a small fraction of patients. Additionally, histiocytic sarcoma may present in the setting of another hematologic neoplasm such as follicular lymphoma, acute myeloid leukemia, acute lymphoblastic leukemia, mantle cell lymphoma, hairy cell leukemia, chronic lymphocytic leukemia or MALT lymphoma. <ref name=":1" /><ref name=":3" /><ref>{{Cite journal|last=Zhang|first=Da|last2=McGuirk|first2=Joseph|last3=Ganguly|first3=Siddhartha|last4=Persons|first4=Diane L.|date=2009-05|title=Histiocytic/dendritic cell sarcoma arising from follicular lymphoma involving the bone: a case report and review of literature|url=https://pubmed.ncbi.nlm.nih.gov/19343479|journal=International Journal of Hematology|volume=89|issue=4|pages=529–532|doi=10.1007/s12185-009-0300-y|issn=1865-3774|pmid=19343479}}</ref><ref name=":5">{{Cite journal|last=Hure|first=Michelle C.|last2=Elco|first2=Christopher P.|last3=Ward|first3=David|last4=Hutchinson|first4=Lloyd|last5=Meng|first5=Xiuling|last6=Dorfman|first6=David M.|last7=Yu|first7=Hongbo|date=2012-02-10|title=Histiocytic sarcoma arising from clonally related mantle cell lymphoma|url=https://pubmed.ncbi.nlm.nih.gov/22184374|journal=Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology|volume=30|issue=5|pages=e49–53|doi=10.1200/JCO.2011.38.8553|issn=1527-7755|pmid=22184374}}</ref><ref>{{Cite journal|last=Alvaro|first=T.|last2=Bosch|first2=R.|last3=Salvadó|first3=M. T.|last4=Piris|first4=M. A.|date=1996-11|title=True histiocytic lymphoma of the stomach associated with low-grade B-cell mucosa-associated lymphoid tissue (MALT)-type lymphoma|url=https://pubmed.ncbi.nlm.nih.gov/8898846|journal=The American Journal of Surgical Pathology|volume=20|issue=11|pages=1406–1411|doi=10.1097/00000478-199611000-00013|issn=0147-5185|pmid=8898846}}</ref><ref>{{Cite journal|last=Bouabdallah|first=R.|last2=Abéna|first2=P.|last3=Chetaille|first3=B.|last4=Aurran-Schleinitz|first4=T.|last5=Sainty|first5=D.|last6=Dubus|first6=P.|last7=Arnoulet|first7=C.|last8=Coso|first8=D.|last9=Xerri|first9=L.|date=2001-06|title=True histiocytic lymphoma following B-acute lymphoblastic leukaemia: case report with evidence for a common clonal origin in both neoplasms|url=https://pubmed.ncbi.nlm.nih.gov/11442501|journal=British Journal of Haematology|volume=113|issue=4|pages=1047–1050|doi=10.1046/j.1365-2141.2001.02841.x|issn=0007-1048|pmid=11442501}}</ref><ref>{{Cite journal|last=Castro|first=Eumenia C. C.|last2=Blazquez|first2=Cristina|last3=Boyd|first3=Jaime|last4=Correa|first4=Hernán|last5=de Chadarevian|first5=J.-P.|last6=Felgar|first6=Raymond E.|last7=Graf|first7=Nicole|last8=Levy|first8=Norman|last9=Lowe|first9=Eric J.|date=2010-05|title=Clinicopathologic features of histiocytic lesions following ALL, with a review of the literature|url=https://pubmed.ncbi.nlm.nih.gov/19642834|journal=Pediatric and Developmental Pathology: The Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society|volume=13|issue=3|pages=225–237|doi=10.2350/09-03-0622-OA.1|issn=1093-5266|pmid=19642834}}</ref><ref>{{Cite journal|last=Kumar|first=Riten|last2=Khan|first2=Shakila P.|last3=Joshi|first3=Divya-Devi|last4=Shaw|first4=Gene R.|last5=Ketterling|first5=Rhett P.|last6=Feldman|first6=Andrew L.|date=2011-02|title=Pediatric histiocytic sarcoma clonally related to precursor B-cell acute lymphoblastic leukemia with homozygous deletion of CDKN2A encoding p16INK4A|url=https://pubmed.ncbi.nlm.nih.gov/20973102|journal=Pediatric Blood & Cancer|volume=56|issue=2|pages=307–310|doi=10.1002/pbc.22810|issn=1545-5017|pmid=20973102}}</ref><ref>{{Cite journal|last=McClure|first=Rebecca|last2=Khoury|first2=Joseph|last3=Feldman|first3=Andrew|last4=Ketterling|first4=Rhett|date=2010-02|title=Clonal relationship between precursor B-cell acute lymphoblastic leukemia and histiocytic sarcoma: a case report and discussion in the context of similar cases|url=https://pubmed.ncbi.nlm.nih.gov/19744706|journal=Leukemia Research|volume=34|issue=2|pages=e71–73|doi=10.1016/j.leukres.2009.08.020|issn=1873-5835|pmid=19744706}}</ref><ref>{{Cite journal|last=Michonneau|first=David|last2=Kaltenbach|first2=Sophie|last3=Derrieux|first3=Coralie|last4=Trinquand|first4=Amelie|last5=Brouzes|first5=Chantal|last6=Gibault|first6=Laure|last7=North|first7=Marie-Odile|last8=Delarue|first8=Richard|last9=Varet|first9=Bruno|date=2014-12-10|title=BRAF(V600E) mutation in a histiocytic sarcoma arising from hairy cell leukemia|url=https://pubmed.ncbi.nlm.nih.gov/24567436|journal=Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology|volume=32|issue=35|pages=e117–121|doi=10.1200/JCO.2013.49.0078|issn=1527-7755|pmid=24567436}}</ref><ref>{{Cite journal|last=Shao|first=Haipeng|last2=Xi|first2=Liqiang|last3=Raffeld|first3=Mark|last4=Feldman|first4=Andrew L.|last5=Ketterling|first5=Rhett P.|last6=Knudson|first6=Ryan|last7=Rodriguez-Canales|first7=Jaime|last8=Hanson|first8=Jeffrey|last9=Pittaluga|first9=Stefania|date=2011-11|title=Clonally related histiocytic/dendritic cell sarcoma and chronic lymphocytic leukemia/small lymphocytic lymphoma: a study of seven cases|url=https://pubmed.ncbi.nlm.nih.gov/21666687|journal=Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc|volume=24|issue=11|pages=1421–1432|doi=10.1038/modpathol.2011.102|issn=1530-0285|pmc=3175277|pmid=21666687}}</ref> Association of HS with a germ cell tumor or autoimmune lymphoproliferative syndrome has also been described.<ref name=":13">{{Cite journal|last=Nichols|first=C. R.|last2=Roth|first2=B. J.|last3=Heerema|first3=N.|last4=Griep|first4=J.|last5=Tricot|first5=G.|date=1990-05-17|title=Hematologic neoplasia associated with primary mediastinal germ-cell tumors|url=https://pubmed.ncbi.nlm.nih.gov/2158625|journal=The New England Journal of Medicine|volume=322|issue=20|pages=1425–1429|doi=10.1056/NEJM199005173222004|issn=0028-4793|pmid=2158625}}</ref>
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!Notes
 
!Notes
 
|-
 
|-
|<span class="blue-text">EXAMPLE:</span> t(9;22)(q34;q11.2)||<span class="blue-text">EXAMPLE:</span> 3'ABL1 / 5'BCR||<span class="blue-text">EXAMPLE:</span> der(22)||<span class="blue-text">EXAMPLE:</span> 20% (COSMIC)
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|EXAMPLE t(9;22)(q34;q11.2)||EXAMPLE 3'ABL1 / 5'BCR||EXAMPLE der(22)||EXAMPLE 20% (COSMIC)
<span class="blue-text">EXAMPLE:</span> 30% (add reference)
+
EXAMPLE 30% (add reference)
 
|Yes
 
|Yes
 
|No
 
|No
 
|Yes
 
|Yes
|<span class="blue-text">EXAMPLE:</span>
+
|EXAMPLE
    
The t(9;22) is diagnostic of CML in the appropriate morphology and clinical context (add reference). This fusion is responsive to targeted therapy such as Imatinib (Gleevec) (add reference).
 
The t(9;22) is diagnostic of CML in the appropriate morphology and clinical context (add reference). This fusion is responsive to targeted therapy such as Imatinib (Gleevec) (add reference).
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   −
<blockquote class='blockedit'>{{Box-round|title=HAEM5 Conversion Notes|Content Update To WHO 5th Edition Classification Is In Process; Content Below is Based on WHO 4th Edition Classification}}
+
<blockquote class='blockedit'>{{Box-round|title=v4:Chromosomal Rearrangements (Gene Fusions)|The content below was from the old template. Please incorporate above.}}
    
Very few reports have described the genetic landscape of histiocytic sarcoma, with current literature being restricted to case reports and case series, thus limiting the ability to derive a comprehensive portrait of genetic alterations in HS.
 
Very few reports have described the genetic landscape of histiocytic sarcoma, with current literature being restricted to case reports and case series, thus limiting the ability to derive a comprehensive portrait of genetic alterations in HS.
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<blockquote class='blockedit'>{{Box-round|title=HAEM5 Conversion Notes|Please incorporate this section into the relevant tables found in:
+
<blockquote class='blockedit'>{{Box-round|title=v4:Clinical Significance (Diagnosis, Prognosis and Therapeutic Implications).|Please incorporate this section into the relevant tables found in:
 
* Chromosomal Rearrangements (Gene Fusions)
 
* Chromosomal Rearrangements (Gene Fusions)
 
* Individual Region Genomic Gain/Loss/LOH
 
* Individual Region Genomic Gain/Loss/LOH
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==Individual Region Genomic Gain / Loss / LOH==
 
==Individual Region Genomic Gain / Loss / LOH==
   −
Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Includes aberrations not involving gene fusions. Can include references in the table. Can refer to CGC workgroup tables as linked on the homepage if applicable. Do not delete table.'') </span>
+
Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Includes aberrations not involving gene fusions. Can include references in the table. Can refer to CGC workgroup tables as linked on the homepage if applicable.'') </span>
    
{| class="wikitable sortable"
 
{| class="wikitable sortable"
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!Notes
 
!Notes
 
|-
 
|-
|<span class="blue-text">EXAMPLE:</span>
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|EXAMPLE
    
7
 
7
|<span class="blue-text">EXAMPLE:</span> Loss
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|EXAMPLE Loss
|<span class="blue-text">EXAMPLE:</span>
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|EXAMPLE
    
chr7:1- 159,335,973 [hg38]
 
chr7:1- 159,335,973 [hg38]
|<span class="blue-text">EXAMPLE:</span>
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|EXAMPLE
    
chr7
 
chr7
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|Yes
 
|Yes
 
|No
 
|No
|<span class="blue-text">EXAMPLE:</span>
+
|EXAMPLE
    
Presence of monosomy 7 (or 7q deletion) is sufficient for a diagnosis of AML with MDS-related changes when there is ≥20% blasts and no prior therapy (add reference).  Monosomy 7/7q deletion is associated with a poor prognosis in AML (add reference).
 
Presence of monosomy 7 (or 7q deletion) is sufficient for a diagnosis of AML with MDS-related changes when there is ≥20% blasts and no prior therapy (add reference).  Monosomy 7/7q deletion is associated with a poor prognosis in AML (add reference).
 
|-
 
|-
|<span class="blue-text">EXAMPLE:</span>
+
|EXAMPLE
    
8
 
8
|<span class="blue-text">EXAMPLE:</span> Gain
+
|EXAMPLE Gain
|<span class="blue-text">EXAMPLE:</span>
+
|EXAMPLE
    
chr8:1-145,138,636 [hg38]
 
chr8:1-145,138,636 [hg38]
|<span class="blue-text">EXAMPLE:</span>
+
|EXAMPLE
    
chr8
 
chr8
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|No
 
|No
 
|No
 
|No
|<span class="blue-text">EXAMPLE:</span>
+
|EXAMPLE
    
Common recurrent secondary finding for t(8;21) (add reference).
 
Common recurrent secondary finding for t(8;21) (add reference).
 
|}
 
|}
   −
<blockquote class='blockedit'>{{Box-round|title=HAEM5 Conversion Notes|Content Update To WHO 5th Edition Classification Is In Process; Content Below is Based on WHO 4th Edition Classification}}
+
<blockquote class='blockedit'>{{Box-round|title=v4:Genomic Gain/Loss/LOH|The content below was from the old template. Please incorporate above.}}
    
None recurrent.
 
None recurrent.
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==Characteristic Chromosomal Patterns==
 
==Characteristic Chromosomal Patterns==
   −
Put your text here <span style="color:#0070C0">(''EXAMPLE PATTERNS: hyperdiploid; gain of odd number chromosomes including typically chromosome 1, 3, 5, 7, 11, and 17; co-deletion of 1p and 19q; complex karyotypes without characteristic genetic findings; chromothripsis. Do not delete table.'')</span>
+
Put your text here <span style="color:#0070C0">(''EXAMPLE PATTERNS: hyperdiploid; gain of odd number chromosomes including typically chromosome 1, 3, 5, 7, 11, and 17; co-deletion of 1p and 19q; complex karyotypes without characteristic genetic findings; chromothripsis'')</span>
    
{| class="wikitable sortable"
 
{| class="wikitable sortable"
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!Notes
 
!Notes
 
|-
 
|-
|<span class="blue-text">EXAMPLE:</span>
+
|EXAMPLE
    
Co-deletion of 1p and 18q
 
Co-deletion of 1p and 18q
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|No
 
|No
 
|No
 
|No
|<span class="blue-text">EXAMPLE:</span>
+
|EXAMPLE:
    
See chromosomal rearrangements table as this pattern is due to an unbalanced derivative translocation associated with oligodendroglioma (add reference).
 
See chromosomal rearrangements table as this pattern is due to an unbalanced derivative translocation associated with oligodendroglioma (add reference).
 
|}
 
|}
   −
<blockquote class='blockedit'>{{Box-round|title=HAEM5 Conversion Notes|Content Update To WHO 5th Edition Classification Is In Process; Content Below is Based on WHO 4th Edition Classification}}
+
<blockquote class='blockedit'>{{Box-round|title=v4:Characteristic Chromosomal Aberrations / Patterns|The content below was from the old template. Please incorporate above.}}
    
No characteristic chromosomal aberrations have been described in HS. Rarely, histiocytic sarcoma may arise in patients with mediastinal germ cell tumor. In this setting, the germ cell tumor and HS may display isochromosome 12p.<ref name=":13" />
 
No characteristic chromosomal aberrations have been described in HS. Rarely, histiocytic sarcoma may arise in patients with mediastinal germ cell tumor. In this setting, the germ cell tumor and HS may display isochromosome 12p.<ref name=":13" />
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==Gene Mutations (SNV / INDEL)==
 
==Gene Mutations (SNV / INDEL)==
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Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: This table is not meant to be an exhaustive list; please include only genes/alterations that are recurrent and common as well as either disease defining and/or clinically significant. Can include references in the table. For clinical significance, denote associations with FDA-approved therapy (not an extensive list of applicable drugs) and NCCN or other national guidelines if applicable. Can also refer to CGC workgroup tables as linked on the homepage if applicable as well as any high impact papers or reviews of gene mutations in this entity. Do not delete table.'') </span>
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Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: This table is not meant to be an exhaustive list; please include only genes/alterations that are recurrent and common as well either disease defining and/or clinically significant. Can include references in the table. For clinical significance, denote associations with FDA-approved therapy (not an extensive list of applicable drugs) and NCCN or other national guidelines if applicable; Can also refer to CGC workgroup tables as linked on the homepage if applicable as well as any high impact papers or reviews of gene mutations in this entity.'') </span>
    
{| class="wikitable sortable"
 
{| class="wikitable sortable"
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!Notes
 
!Notes
 
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|<span class="blue-text">EXAMPLE:</span> TP53; Variable LOF mutations
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|EXAMPLE: TP53; Variable LOF mutations
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<span class="blue-text">EXAMPLE:</span>
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EXAMPLE:
    
EGFR; Exon 20 mutations
 
EGFR; Exon 20 mutations
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<span class="blue-text">EXAMPLE:</span> BRAF; Activating mutations
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EXAMPLE: BRAF; Activating mutations
|<span class="blue-text">EXAMPLE:</span> TSG
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|EXAMPLE: TSG
|<span class="blue-text">EXAMPLE:</span> 20% (COSMIC)
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|EXAMPLE: 20% (COSMIC)
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<span class="blue-text">EXAMPLE:</span> 30% (add Reference)
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EXAMPLE: 30% (add Reference)
|<span class="blue-text">EXAMPLE:</span> IDH1 R123H
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|EXAMPLE: IDH1 R123H
|<span class="blue-text">EXAMPLE:</span> EGFR amplification
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|EXAMPLE: EGFR amplification
 
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|<span class="blue-text">EXAMPLE:</span>  Excludes hairy cell leukemia (HCL) (add reference).
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|EXAMPLE:  Excludes hairy cell leukemia (HCL) (add reference).
 
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<blockquote class='blockedit'>{{Box-round|title=HAEM5 Conversion Notes|Content Update To WHO 5th Edition Classification Is In Process; Content Below is Based on WHO 4th Edition Classification}}
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<blockquote class='blockedit'>{{Box-round|title=v4:Gene Mutations (SNV/INDEL)|The content below was from the old template. Please incorporate above.}}
    
''BRAF'' mutations (V600E and non-V600E) have been identified in a subset of patients with histiocytic sarcoma. Additionally, a study in which targeted next-generation sequencing was performed on 28 cases, reported recurrent mutations in the MAP kinase pathway (including ''KRAS, NRAS, MAP2K1, BRAF, PTPN11, NF1, CBL''), and the PI3K signaling pathway (including ''PTEN, MTOR, PIK2R1, PIK3CA''). Also, some cases, mostly those with a prior diagnosis of B-cell lymphoma, harbored a mutational signature of “aberrant somatic hypermutation” with mutations in genes such as ''BCL6, BCL2, CIITA, MYC, SOCS1, PAX5''. In this study, ''CDNK2A'' was the most commonly altered gene (13/28, 46%). The authors identified a mean coding mutational burden of 3.56/Mb in their cohort, a number that is relatively low as compared with other malignancies.<ref name=":7" /> In another series reporting on 21 cases of primary HS investigated with whole-exome sequencing and RNA sequencing, Egan et al identified a high frequency of alterations within the RAS/RAF/MAPK pathway (such as ''NF1, PTPN11, MAP2K1, NRAS, KRAS'').<ref name=":6" />
 
''BRAF'' mutations (V600E and non-V600E) have been identified in a subset of patients with histiocytic sarcoma. Additionally, a study in which targeted next-generation sequencing was performed on 28 cases, reported recurrent mutations in the MAP kinase pathway (including ''KRAS, NRAS, MAP2K1, BRAF, PTPN11, NF1, CBL''), and the PI3K signaling pathway (including ''PTEN, MTOR, PIK2R1, PIK3CA''). Also, some cases, mostly those with a prior diagnosis of B-cell lymphoma, harbored a mutational signature of “aberrant somatic hypermutation” with mutations in genes such as ''BCL6, BCL2, CIITA, MYC, SOCS1, PAX5''. In this study, ''CDNK2A'' was the most commonly altered gene (13/28, 46%). The authors identified a mean coding mutational burden of 3.56/Mb in their cohort, a number that is relatively low as compared with other malignancies.<ref name=":7" /> In another series reporting on 21 cases of primary HS investigated with whole-exome sequencing and RNA sequencing, Egan et al identified a high frequency of alterations within the RAS/RAF/MAPK pathway (such as ''NF1, PTPN11, MAP2K1, NRAS, KRAS'').<ref name=":6" />
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==Genes and Main Pathways Involved==
 
==Genes and Main Pathways Involved==
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Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Can include references in the table. Do not delete table.'')</span>
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Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Can include references in the table.'')</span>
 
{| class="wikitable sortable"
 
{| class="wikitable sortable"
 
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!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome
 
!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome
 
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|<span class="blue-text">EXAMPLE:</span> BRAF and MAP2K1; Activating mutations
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|EXAMPLE: BRAF and MAP2K1; Activating mutations
|<span class="blue-text">EXAMPLE:</span> MAPK signaling
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|EXAMPLE: MAPK signaling
|<span class="blue-text">EXAMPLE:</span> Increased cell growth and proliferation
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|EXAMPLE: Increased cell growth and proliferation
 
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|<span class="blue-text">EXAMPLE:</span> CDKN2A; Inactivating mutations
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|EXAMPLE: CDKN2A; Inactivating mutations
|<span class="blue-text">EXAMPLE:</span> Cell cycle regulation
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|EXAMPLE: Cell cycle regulation
|<span class="blue-text">EXAMPLE:</span> Unregulated cell division
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|EXAMPLE: Unregulated cell division
 
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|<span class="blue-text">EXAMPLE:</span>  KMT2C and ARID1A; Inactivating mutations
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|EXAMPLE:  KMT2C and ARID1A; Inactivating mutations
|<span class="blue-text">EXAMPLE:</span>  Histone modification, chromatin remodeling
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|EXAMPLE:  Histone modification, chromatin remodeling
|<span class="blue-text">EXAMPLE:</span>  Abnormal gene expression program
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|EXAMPLE:  Abnormal gene expression program
 
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<blockquote class='blockedit'>{{Box-round|title=HAEM5 Conversion Notes|Content Update To WHO 5th Edition Classification Is In Process; Content Below is Based on WHO 4th Edition Classification}}
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<blockquote class='blockedit'>{{Box-round|title=v4:Genes and Main Pathways Involved|The content below was from the old template. Please incorporate above.}}
    
A recent molecular profiling study by Shanmugam et al highlighted that alterations in the MAP kinase, PI3K- and cyclin-CDK4/6-INK4 signaling pathways appear involved in the pathogenesis of histiocytic sarcoma.<ref name=":7" /> Egan et al also identified a high frequency of alterations within the RAS/RAF/MAPK pathway.<ref name=":6" /> Histiocytic sarcoma may also be associated with perturbations of chromatin regulation.<ref>{{Cite journal|last=Hung|first=Yin P.|last2=Qian|first2=Xiaohua|date=2020-05|title=Histiocytic Sarcoma|url=https://pubmed.ncbi.nlm.nih.gov/31070934|journal=Archives of Pathology & Laboratory Medicine|volume=144|issue=5|pages=650–654|doi=10.5858/arpa.2018-0349-RS|issn=1543-2165|pmid=31070934}}</ref>
 
A recent molecular profiling study by Shanmugam et al highlighted that alterations in the MAP kinase, PI3K- and cyclin-CDK4/6-INK4 signaling pathways appear involved in the pathogenesis of histiocytic sarcoma.<ref name=":7" /> Egan et al also identified a high frequency of alterations within the RAS/RAF/MAPK pathway.<ref name=":6" /> Histiocytic sarcoma may also be associated with perturbations of chromatin regulation.<ref>{{Cite journal|last=Hung|first=Yin P.|last2=Qian|first2=Xiaohua|date=2020-05|title=Histiocytic Sarcoma|url=https://pubmed.ncbi.nlm.nih.gov/31070934|journal=Archives of Pathology & Laboratory Medicine|volume=144|issue=5|pages=650–654|doi=10.5858/arpa.2018-0349-RS|issn=1543-2165|pmid=31070934}}</ref>
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==Links==
 
==Links==
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Put your text placeholder here (or anywhere appropriate on the page) and use the "Link" icon at the top of the page <span style="color:#0070C0">(''Instructions: Highlight text to which you want to add a link in this section or elsewhere, select the "Link" icon at the top of the 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>
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Put your text placeholder here (or anywhere appropriate on the page) and use the "Link" icon at the top of the page <span style="color:#0070C0">(''Instructions: Once you have a text placeholder entered to which you want to add a link, highlight that text, select the "Link" icon at the top of the page, and search the name of the internal page to which you want to link this text, or enter an external internet address including the "<nowiki>http://www</nowiki>." portion.'')</span>
    
==References==
 
==References==