Compendium of Cancer Genome Aberrations

HAEM5:Myeloid sarcoma: Difference between revisions

[checked revision][checked revision]
← Older edit
VisualWikitext
No edit summary
No edit summary
 
(4 intermediate revisions by the same user not shown)
Line 4: Line 4:
{{Under Construction}}
{{Under Construction}}


<blockquote class='blockedit'>{{Box-round|title=Content Update To WHO 5th Edition Classification Is In Process; Content Below is Based on WHO 4th Edition Classification|This page was converted to the new template on 2023-12-07. The original page can be found at [[HAEM4:Myeloid Sarcoma]].
<blockquote class="blockedit">{{Box-round|title=Content Update To WHO 5th Edition Classification Is In Process; Content Below is Based on WHO 4th Edition Classification|This page was converted to the new template on 2023-12-07. The original page can be found at [[HAEM4:Myeloid Sarcoma]].
}}</blockquote>
}}</blockquote>


Line 13: Line 13:
Yalda Naeini, MD, School of Medicine at University of California Los Angeles
Yalda Naeini, MD, School of Medicine at University of California Los Angeles
Fabiola Quintero-Rivera, MD, FACMG, School of Medicine at University of California Irvine  
Fabiola Quintero-Rivera, MD, FACMG, School of Medicine at University of California Irvine  
__TOC__
==WHO Classification of Disease==
==WHO Classification of Disease==


Line 38: Line 35:
|}
|}


==Definition / Description of Disease==
==Related Terminology==
 
Tumor mass consisting of myeloid blasts with or without maturation occurring at an anatomical site other than the bone marrow.
 
==Synonyms / Terminology==
 
Extramedullary myeloid tumor,
Granulocytic sarcoma,
Chloroma
 
==Epidemiology / Prevalence==
 
Rare neoplasm with predilection for males and older individuals with male:female ratio of 1.2:1. The median age is 56 years.
 
==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'''
|<span class="blue-text">EXAMPLE:</span> Asymptomatic (incidental finding on complete blood counts)
 
<span class="blue-text">EXAMPLE:</span> B-symptoms (weight loss, fever, night sweats)
 
<span class="blue-text">EXAMPLE:</span> Fatigue
 
<span class="blue-text">EXAMPLE:</span> Lymphadenopathy (uncommon)
|-
|'''Laboratory Findings'''
|<span class="blue-text">EXAMPLE:</span> Cytopenias
 
<span class="blue-text">EXAMPLE:</span> Lymphocytosis (low level)
|}
 
 
<blockquote class='blockedit'>{{Box-round|title=v4:Clinical Features|The content below was from the old template. Please incorporate above.}}</blockquote>
 
Myeloid sarcoma may occur ''de novo'' in about one quarter of cases. Its detection should be considered as the equivalent of a diagnosis of AML. It may precede or coincide with AML or represent acute blastic transformation of MDS, MPN or MDS/MPN. Myeloid sarcoma may also be the initial manifestation of relapse in a patient with previously diagnosed AML, regardless of peripheral blood or bone marrow findings. In addition, isolated myeloid sarcoma occurs in 8-20% of patients who have undergone allogenic stem cell transplantation (reason still unclear), or in patients with simultaneously or previously treated non-Hodgkin lymphoma or a previous history of non-hematopoietic tumor (therapy-related)<ref>{{Cite journal|last=Pileri|first=S. A.|last2=Ascani|first2=S.|last3=Cox|first3=M. C.|last4=Campidelli|first4=C.|last5=Bacci|first5=F.|last6=Piccioli|first6=M.|last7=Piccaluga|first7=P. P.|last8=Agostinelli|first8=C.|last9=Asioli|first9=S.|date=2007|title=Myeloid sarcoma: clinico-pathologic, phenotypic and cytogenetic analysis of 92 adult patients|url=https://www.ncbi.nlm.nih.gov/pubmed/17170724|journal=Leukemia|volume=21|issue=2|pages=340–350|doi=10.1038/sj.leu.2404491|issn=0887-6924|pmid=17170724}}</ref><ref name=":0">Pileri SA, et al., (2017). Myeloid sarcoma, in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, Revised 4th edition. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Arber D, Hasserjian R, Le Beau M, Orazi A, Siebert R, Editors. IARC Press: Lyon, France, p167-168.</ref>.
 
<blockquote class="blockedit">
<center><span style="color:Maroon">'''End of V4 Section'''</span>
----
</blockquote>
==Sites of Involvement==
 
Almost every site of the body can be involved, the skin, lymph node, gastro-intestinal tract, bone, soft tissue and testis being more frequently affected. In less than 10% of cases, myeloid sarcoma presents at multiple anatomical sites.
 
==Morphologic Features==
 
A myeloid sarcoma most commonly consists of myeloblasts with or without features of promyelocytic or neutrophilic maturation that partially or totally efface the tissue architecture. In a significant proportion of cases, it displays myelomonocytic or pure monoblastic morphology. Tumors with trilineage haematopoiesis or predominantly erythroid precursors or megakaryoblasts are rare and may occur in conjunction with transformation of MPN. Architecturally, at extranodal sites neoplastic cells may mimic metastatic carcinoma with cohesive sheets.
 
==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)||<span class="blue-text">EXAMPLE:</span> CD1
|-
|Positive (subset)||<span class="blue-text">EXAMPLE:</span> CD2
|-
|Negative (universal)||<span class="blue-text">EXAMPLE:</span> CD3
|-
|Negative (subset)||<span class="blue-text">EXAMPLE:</span> CD4
|}


<blockquote class='blockedit'>{{Box-round|title=v4:Immunophenotype|The content below was from the old template. Please incorporate above.}}</blockquote>
On immunohistochemistry in paraffin sections, tumors with more mature myeloid profile express CD33, CD34, CD68 (KP1) and CKIT. Staining for terminal deoxynucleotidyl transferase (TdT), MPO and CD45 are inconsistent.
About 16% of tumors stain for NPM1 at the nuclear and cytoplasmic level; this indicates the presence of ''NPM1'' mutation.
Promyelocytic cases lack CD34 and TdT but express MPO and CD15.
Myelomonocytic tumors are homogeneneously positive for CD68 or CD163, but lack MPO and CD34.
Exceptionally, aberrant antigenic expressions are observed (cytokeratins, B- or T-cell markers).
Cases that meet criteria for mixed phenotype acute leukemia are not classified as myeloid sarcoma<ref name=":0" />.
<blockquote class="blockedit">
<center><span style="color:Maroon">'''End of V4 Section'''</span>
----
</blockquote>
==WHO Essential and Desirable Genetic Diagnostic Criteria==
<span style="color:#0070C0">(''Instructions: The table will have the diagnostic criteria from the WHO book <u>autocompleted</u>; remove any <u>non</u>-genetics related criteria. If applicable, add text about other classification'' ''systems that define this entity and specify how the genetics-related criteria differ.'')</span>
{| class="wikitable"
|+
|WHO Essential Criteria (Genetics)*
|
|-
|WHO Desirable Criteria (Genetics)*
|
|-
|Other Classification
|
|}
<nowiki>*</nowiki>Note: These are only the genetic/genomic criteria. Additional diagnostic criteria can be found in the [https://tumourclassification.iarc.who.int/home <u>WHO Classification of Tumours</u>].
==Related Terminology==
<span style="color:#0070C0">(''Instructions: The table will have the related terminology from the WHO <u>autocompleted</u>.)''</span>
{| class="wikitable"
{| class="wikitable"
|+
|+
|Acceptable
|Acceptable
|
|N/A
|-
|-
|Not Recommended
|Not Recommended
|
|Chloroma; granulocytic or monocytic sarcoma; extramedullary myeloid tumour
|}
|}


Line 212: Line 109:
|}
|}


<blockquote class='blockedit'>{{Box-round|title=v4:Chromosomal Rearrangements (Gene Fusions)|The content below was from the old template. Please incorporate above.}}</blockquote>
<blockquote class="blockedit">{{Box-round|title=v4:Chromosomal Rearrangements (Gene Fusions)|The content below was from the old template. Please incorporate above.}}</blockquote>


FISH and/or karyotypic aberrations are detected in about 55% of cases.
FISH and/or karyotypic aberrations are detected in about 55% of cases.
Line 234: Line 131:




<blockquote class='blockedit'>{{Box-round|title=v4:Clinical Significance (Diagnosis, Prognosis and Therapeutic Implications).|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
Line 252: Line 149:
{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
!Chr #!!'''Gain, Loss, Amp, LOH'''!!'''Minimal Region Cytoband and/or Genomic Coordinates [Genome Build; Size]'''!!'''Relevant Gene(s)'''
!Chr #!!Gain, Loss, Amp, LOH!!Minimal Region Cytoband and/or Genomic Coordinates [Genome Build; Size]!!Relevant Gene(s)
!'''Diagnostic, Prognostic, and Therapeutic Significance - D, P, T'''
!Diagnostic, Prognostic, and Therapeutic Significance - D, P, T
!'''Established Clinical Significance Per Guidelines - Yes or No (Source)'''
!Established Clinical Significance Per Guidelines - Yes or No (Source)
!'''Clinical Relevance Details/Other Notes'''
!Clinical Relevance Details/Other Notes
|-
|-
|<span class="blue-text">EXAMPLE:</span>
|<span class="blue-text">EXAMPLE:</span>
Line 302: Line 199:
|}
|}


<blockquote class='blockedit'>{{Box-round|title=v4:Genomic Gain/Loss/LOH|The content below was from the old template. Please incorporate above.}}</blockquote>
<blockquote class="blockedit">{{Box-round|title=v4:Genomic Gain/Loss/LOH|The content below was from the old template. Please incorporate above.}}</blockquote>


{| class="wikitable sortable"
{| class="wikitable sortable"
Line 340: Line 237:
!Chromosomal Pattern
!Chromosomal Pattern
!Molecular Pathogenesis
!Molecular Pathogenesis
!'''Prevalence -'''
!Prevalence -  
'''Common >20%, Recurrent 5-20% or Rare <5% (Disease)'''
Common >20%, Recurrent 5-20% or Rare <5% (Disease)
!'''Diagnostic, Prognostic, and Therapeutic Significance - D, P, T'''
!Diagnostic, Prognostic, and Therapeutic Significance - D, P, T
!'''Established Clinical Significance Per Guidelines - Yes or No (Source)'''
!Established Clinical Significance Per Guidelines - Yes or No (Source)
!'''Clinical Relevance Details/Other Notes'''
!Clinical Relevance Details/Other Notes
|-
|-
|<span class="blue-text">EXAMPLE:</span>
|<span class="blue-text">EXAMPLE:</span>
Line 370: Line 267:
|}
|}


<blockquote class='blockedit'>{{Box-round|title=v4:Characteristic Chromosomal Aberrations / Patterns|The content below was from the old template. Please incorporate above.}}</blockquote>
<blockquote class="blockedit">{{Box-round|title=v4:Characteristic Chromosomal Aberrations / Patterns|The content below was from the old template. Please incorporate above.}}</blockquote>
Complex karyotype is associated with poor outcome<ref name=":1">{{Cite journal|last=Mirza|first=M. Kamran|last2=Sukhanova|first2=Madina|last3=Stölzel|first3=Friedrich|last4=Onel|first4=Kenan|last5=Larson|first5=Richard A.|last6=Stock|first6=Wendy|last7=Ehninger|first7=Gerhard|last8=Kuithan|first8=Friederike|last9=Zöphel|first9=Klaus|date=2014|title=Genomic aberrations in myeloid sarcoma without blood or bone marrow involvement: characterization of formalin-fixed paraffin-embedded samples by chromosomal microarrays|url=https://www.ncbi.nlm.nih.gov/pubmed/25088808|journal=Leukemia Research|volume=38|issue=9|pages=1091–1096|doi=10.1016/j.leukres.2014.05.004|issn=1873-5835|pmc=4157130|pmid=25088808}}</ref>.  
Complex karyotype is associated with poor outcome<ref name=":1">{{Cite journal|last=Mirza|first=M. Kamran|last2=Sukhanova|first2=Madina|last3=Stölzel|first3=Friedrich|last4=Onel|first4=Kenan|last5=Larson|first5=Richard A.|last6=Stock|first6=Wendy|last7=Ehninger|first7=Gerhard|last8=Kuithan|first8=Friederike|last9=Zöphel|first9=Klaus|date=2014|title=Genomic aberrations in myeloid sarcoma without blood or bone marrow involvement: characterization of formalin-fixed paraffin-embedded samples by chromosomal microarrays|url=https://www.ncbi.nlm.nih.gov/pubmed/25088808|journal=Leukemia Research|volume=38|issue=9|pages=1091–1096|doi=10.1016/j.leukres.2014.05.004|issn=1873-5835|pmc=4157130|pmid=25088808}}</ref>.  


Line 387: Line 284:
{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
!Gene!!'''Genetic Alteration'''!!'''Tumor Suppressor Gene, Oncogene, Other'''!!'''Prevalence -'''
!Gene!!Genetic Alteration!!Tumor Suppressor Gene, Oncogene, Other!!Prevalence -
'''Common >20%, Recurrent 5-20% or Rare <5% (Disease)'''
Common >20%, Recurrent 5-20% or Rare <5% (Disease)
!'''Diagnostic, Prognostic, and Therapeutic Significance - D, P, T  '''
!Diagnostic, Prognostic, and Therapeutic Significance - D, P, T  
!'''Established Clinical Significance Per Guidelines - Yes or No (Source)'''
!Established Clinical Significance Per Guidelines - Yes or No (Source)
!'''Clinical Relevance Details/Other Notes'''
!Clinical Relevance Details/Other Notes
|-
|-
|<span class="blue-text">EXAMPLE:</span>''EGFR''
|<span class="blue-text">EXAMPLE:</span>''EGFR''
Line 429: Line 326:
|}Note: A more extensive list of mutations can be found in [https://www.cbioportal.org/ <u>cBioportal</u>], [https://cancer.sanger.ac.uk/cosmic <u>COSMIC</u>], and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content.
|}Note: A more extensive list of mutations can be found in [https://www.cbioportal.org/ <u>cBioportal</u>], [https://cancer.sanger.ac.uk/cosmic <u>COSMIC</u>], and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content.


<blockquote class='blockedit'>{{Box-round|title=v4:Gene Mutations (SNV/INDEL)|The content below was from the old template. Please incorporate above.}}</blockquote>
<blockquote class="blockedit">{{Box-round|title=v4:Gene Mutations (SNV/INDEL)|The content below was from the old template. Please incorporate above.}}</blockquote>


Some studies have reported genetic abnormalities in various AML-associated genes encoding tyrosine kinases (''FLT3'', ''KIT'', and ''KRAS''), tumor suppressors (''WT1'' and ''TP53''), epigenetic modifiers (''TET2'' and ''ASXL1''), spliceosome proteins (''SF3B1'' and ''SRSF2''), and transcription factors (''RUNX1''). One study highlights that almost one-third of MS harbor a targetable mutation, in particular ''KIT'' D816V, ''IDH2'' R140Q, and ''BRAF'' V600E. These mutations can also be found in non infiltrated bone marrows suggesting the existence of preleukemic clones in the bone marrow from MS patients<ref>{{Cite journal|last=Falini|first=B.|last2=Lenze|first2=D.|last3=Hasserjian|first3=R.|last4=Coupland|first4=S.|last5=Jaehne|first5=D.|last6=Soupir|first6=C.|last7=Liso|first7=A.|last8=Martelli|first8=M. P.|last9=Bolli|first9=N.|date=2007|title=Cytoplasmic mutated nucleophosmin (NPM) defines the molecular status of a significant fraction of myeloid sarcomas|url=https://www.ncbi.nlm.nih.gov/pubmed/17443224|journal=Leukemia|volume=21|issue=7|pages=1566–1570|doi=10.1038/sj.leu.2404699|issn=0887-6924|pmid=17443224}}</ref><ref>{{Cite journal|last=Li|first=Z.|last2=Stölzel|first2=F.|last3=Onel|first3=K.|last4=Sukhanova|first4=M.|last5=Mirza|first5=M. K.|last6=Yap|first6=K. L.|last7=Borinets|first7=O.|last8=Larson|first8=R. A.|last9=Stock|first9=W.|date=2015|title=Next-generation sequencing reveals clinically actionable molecular markers in myeloid sarcoma|url=https://www.ncbi.nlm.nih.gov/pubmed/25787914|journal=Leukemia|volume=29|issue=10|pages=2113–2116|doi=10.1038/leu.2015.81|issn=1476-5551|pmc=4575593|pmid=25787914}}</ref><ref>{{Cite journal|last=Pastoret|first=Cedric|last2=Houot|first2=Roch|last3=Llamas-Gutierrez|first3=Francisco|last4=Boulland|first4=Marie-Laure|last5=Marchand|first5=Tony|last6=Tas|first6=Patrick|last7=Ly-Sunnaram|first7=Beatrice|last8=Gandemer|first8=Virginie|last9=Lamy|first9=Thierry|date=2017|title=Detection of clonal heterogeneity and targetable mutations in myeloid sarcoma by high-throughput sequencing|url=https://www.ncbi.nlm.nih.gov/pubmed/27659839|journal=Leukemia & Lymphoma|volume=58|issue=4|pages=1008–1012|doi=10.1080/10428194.2016.1225208|issn=1029-2403|pmid=27659839}}</ref>.
Some studies have reported genetic abnormalities in various AML-associated genes encoding tyrosine kinases (''FLT3'', ''KIT'', and ''KRAS''), tumor suppressors (''WT1'' and ''TP53''), epigenetic modifiers (''TET2'' and ''ASXL1''), spliceosome proteins (''SF3B1'' and ''SRSF2''), and transcription factors (''RUNX1''). One study highlights that almost one-third of MS harbor a targetable mutation, in particular ''KIT'' D816V, ''IDH2'' R140Q, and ''BRAF'' V600E. These mutations can also be found in non infiltrated bone marrows suggesting the existence of preleukemic clones in the bone marrow from MS patients<ref>{{Cite journal|last=Falini|first=B.|last2=Lenze|first2=D.|last3=Hasserjian|first3=R.|last4=Coupland|first4=S.|last5=Jaehne|first5=D.|last6=Soupir|first6=C.|last7=Liso|first7=A.|last8=Martelli|first8=M. P.|last9=Bolli|first9=N.|date=2007|title=Cytoplasmic mutated nucleophosmin (NPM) defines the molecular status of a significant fraction of myeloid sarcomas|url=https://www.ncbi.nlm.nih.gov/pubmed/17443224|journal=Leukemia|volume=21|issue=7|pages=1566–1570|doi=10.1038/sj.leu.2404699|issn=0887-6924|pmid=17443224}}</ref><ref>{{Cite journal|last=Li|first=Z.|last2=Stölzel|first2=F.|last3=Onel|first3=K.|last4=Sukhanova|first4=M.|last5=Mirza|first5=M. K.|last6=Yap|first6=K. L.|last7=Borinets|first7=O.|last8=Larson|first8=R. A.|last9=Stock|first9=W.|date=2015|title=Next-generation sequencing reveals clinically actionable molecular markers in myeloid sarcoma|url=https://www.ncbi.nlm.nih.gov/pubmed/25787914|journal=Leukemia|volume=29|issue=10|pages=2113–2116|doi=10.1038/leu.2015.81|issn=1476-5551|pmc=4575593|pmid=25787914}}</ref><ref>{{Cite journal|last=Pastoret|first=Cedric|last2=Houot|first2=Roch|last3=Llamas-Gutierrez|first3=Francisco|last4=Boulland|first4=Marie-Laure|last5=Marchand|first5=Tony|last6=Tas|first6=Patrick|last7=Ly-Sunnaram|first7=Beatrice|last8=Gandemer|first8=Virginie|last9=Lamy|first9=Thierry|date=2017|title=Detection of clonal heterogeneity and targetable mutations in myeloid sarcoma by high-throughput sequencing|url=https://www.ncbi.nlm.nih.gov/pubmed/27659839|journal=Leukemia & Lymphoma|volume=58|issue=4|pages=1008–1012|doi=10.1080/10428194.2016.1225208|issn=1029-2403|pmid=27659839}}</ref>.
Line 503: Line 400:
(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><span style="color:#0070C0">)</span> <references />


'''
<br />


==Notes==
==Notes==
Line 512: Line 409:
          
          
<nowiki>*</nowiki>''Citation of this Page'': “Myeloid sarcoma”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/HAEM5:Myeloid_sarcoma</nowiki>.
<nowiki>*</nowiki>''Citation of this Page'': “Myeloid sarcoma”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/HAEM5:Myeloid_sarcoma</nowiki>.
[[Category:HAEM5]][[Category:DISEASE]][[Category:Diseases M]]
[[Category:HAEM5]]
[[Category:DISEASE]]
[[Category:Diseases M]]
Retrieved from "https://test.ccga.io/index.php/HAEM5:Myeloid_sarcoma"