Compendium of Cancer Genome Aberrations

HAEM5:Systemic mastocytosis: Difference between revisions

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<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:Systemic Mastocytosis]].
<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:Systemic Mastocytosis]].
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'''Shashi Shetty, Ph.D. FACMG, FCCMG,''' University Hospitals Cleveland Medical Center, Case Western Reserve University
'''Shashi Shetty, Ph.D. FACMG, FCCMG,''' University Hospitals Cleveland Medical Center, Case Western Reserve University
__TOC__
==WHO Classification of Disease==
==WHO Classification of Disease==


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==Definition / Description of Disease==
==Related Terminology==
 
The 2017 World Health Organization (WHO) classification of hematopoietic and lymphoid tumors defines five subtypes of Systemic mastocytosis<ref>Arber DA, et al., (2017). Mastocytosis, 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 DA, Hasserjian RP, Le Beau MM, Orazi A, and Siebert R, Editors. IARC Press: Lyon, France, p 66-69.</ref>
 
#Indolent systemic mastocytosis (including the bone marrow mastocytosis subtype)
#Smouldering systemic mastocytosis
#Systemic mastocytosis with an associated haematological neoplasm
#Aggressive systemic mastocytosis
#Mast cell leukaemia
 
The term systemic mastocytosis with an associated haematological neoplasm (SM-AHN) refers to cases with systemic mastocytosis and associated hematological neoplasms combination at the same time. In addition to systemic mastocytosis, usually a myeloid disease of non-mast cell lineage is detected, such as a myelodysplastic syndrome, myeloproliferative neoplasm, myelodysplastic/myeloproliferative neoplasm or acute myeloid leukaemia<ref>{{Cite journal|last=P|first=Valent|last2=Hp|first2=Horny|last3=L|first3=Escribano|last4=Bj|first4=Longley|last5=Cy|first5=Li|last6=Lb|first6=Schwartz|last7=G|first7=Marone|last8=R|first8=Nuñez|last9=C|first9=Akin|date=2001|title=Diagnostic criteria and classification of mastocytosis: a consensus proposal|url=https://pubmed.ncbi.nlm.nih.gov/11377686/|language=en|pmid=11377686}}</ref> .
 
This page will focus specifically only on systemic mastocytosis with an associated hematological neoplasm.
 
==Synonyms / Terminology==
 
Systemic mastocytosis with an associated clonal hematological non-mast cell lineage disease (SH-AHNMD)
 
==Epidemiology / Prevalence==
 
SM-AHN represents 5-40% of cases of systemic mastocytosis<ref>{{Cite journal|last=Ibrahim|first=Feryal A.|last2=Abdulla|first2=Mohammad A.J.|last3=Soliman|first3=Dina|last4=Sabbagh|first4=Ahmad Al|last5=Nawaz|first5=Zafar|last6=Akiki|first6=Susanna Jane|last7=Shwaylia|first7=Hawraa|last8=Yassin|first8=Mohamed A.|date=2020|title=A Rare Case of Systemic Mastocytosis with Associated Hematologic Neoplasm (SM-AHN) Involving Chronic Myeloid Leukemia: A Case Report and Literature Review|url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7252834/|journal=The American Journal of Case Reports|volume=21|pages=e923354–1–e923354-9|doi=10.12659/AJCR.923354|issn=1941-5923|pmc=7252834|pmid=32398637}}</ref> 
 
==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>
The clinical symptoms, disease course and prognosis is determined by both to systemic mastocytosis and to the associated haematological disorder<ref>{{Cite journal|last=Kh|first=Lim|last2=A|first2=Tefferi|last3=Tl|first3=Lasho|last4=C|first4=Finke|last5=M|first5=Patnaik|last6=Jh|first6=Butterfield|last7=Rf|first7=McClure|last8=Cy|first8=Li|last9=A|first9=Pardanani|date=2009|title=Systemic mastocytosis in 342 consecutive adults: survival studies and prognostic factors|url=https://pubmed.ncbi.nlm.nih.gov/19363219/|language=en|pmid=19363219}}</ref> <ref>{{Cite journal|last=Horny|first=H-P|last2=Sotlar|first2=K|last3=Sperr|first3=W R|last4=Valent|first4=P|date=2004|title=Systemic mastocytosis with associated clonal haematological non-mast cell lineage diseases: a histopathological challenge|url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1770310/|journal=Journal of Clinical Pathology|volume=57|issue=6|pages=604–608|doi=10.1136/jcp.2003.014860|issn=0021-9746|pmc=1770310|pmid=15166264}}</ref><sup>,</sup><ref>{{Cite journal|last=Valent|first=P.|last2=Sotlar|first2=K.|last3=Sperr|first3=W. R.|last4=Escribano|first4=L.|last5=Yavuz|first5=S.|last6=Reiter|first6=A.|last7=George|first7=T. I.|last8=Kluin-Nelemans|first8=H. C.|last9=Hermine|first9=O.|date=2014|title=Refined diagnostic criteria and classification of mast cell leukemia (MCL) and myelomastocytic leukemia (MML): a consensus proposal|url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4155468/|journal=Annals of Oncology|volume=25|issue=9|pages=1691–1700|doi=10.1093/annonc/mdu047|issn=0923-7534|pmc=4155468|pmid=24675021}}</ref>
<blockquote class="blockedit">
<center><span style="color:Maroon">'''End of V4 Section'''</span>
----
</blockquote>
==Sites of Involvement==
Similar to systemic mastocytosis and associated neoplasms.
==Morphologic Features==
Similar to systemic mastocytosis and associated neoplasms.
==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
|}
==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
|
|Systemic mast cell disease; systemic mastocytosis with an associated clonal haematological non–mast cell lineage disease
|-
|-
|Not Recommended
|Not Recommended
|
|N/A
|}
|}


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<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
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{| 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>
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!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>
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{| 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''
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|}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>


The KIT gene mutation is useful in the diagnosis of systemic mastocytosis (SM) or mixed lineage hematopoietic neoplasms with a mast cell component and to stratify prognosis of core-binding factor (CBF) acute myeloid leukemia (AML).
The KIT gene mutation is useful in the diagnosis of systemic mastocytosis (SM) or mixed lineage hematopoietic neoplasms with a mast cell component and to stratify prognosis of core-binding factor (CBF) acute myeloid leukemia (AML).
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'''
<br />


==Notes==
==Notes==
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<nowiki>*</nowiki>''Citation of this Page'': “Systemic mastocytosis”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/HAEM5:Systemic_mastocytosis</nowiki>.
<nowiki>*</nowiki>''Citation of this Page'': “Systemic mastocytosis”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/HAEM5:Systemic_mastocytosis</nowiki>.
[[Category:HAEM5]][[Category:DISEASE]][[Category:Diseases S]]
[[Category:HAEM5]]
[[Category:DISEASE]]
[[Category:Diseases S]]
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