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| {{DISPLAYTITLE:Systemic mastocytosis}} | | {{DISPLAYTITLE:Systemic mastocytosis}} |
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| [[HAEM5:Table_of_Contents|Haematolymphoid Tumours (WHO Classification, 5th ed.)]] | | [[HAEM5:Table_of_Contents|Haematolymphoid Tumours (WHO Classification, 5th ed.)]] |
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| {{Under Construction}} | | {{Under Construction}} |
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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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| |Subtype(s) | | |Subtype(s) |
| |Systemic mastocytosis | | |Systemic mastocytosis |
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| ==Definition / Description of Disease==
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| 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>
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| #Indolent systemic mastocytosis (including the bone marrow mastocytosis subtype)
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| #Smouldering systemic mastocytosis
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| #Systemic mastocytosis with an associated haematological neoplasm
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| #Aggressive systemic mastocytosis
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| #Mast cell leukaemia
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| 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> .
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| This page will focus specifically only on systemic mastocytosis with an associated hematological neoplasm.
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| ==Synonyms / Terminology==
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| Systemic mastocytosis with an associated clonal hematological non-mast cell lineage disease (SH-AHNMD)
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| ==Epidemiology / Prevalence==
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| 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>
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| ==Clinical Features==
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| 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>
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| |'''Signs and Symptoms'''
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| |<span class="blue-text">EXAMPLE:</span> Asymptomatic (incidental finding on complete blood counts)
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| <span class="blue-text">EXAMPLE:</span> B-symptoms (weight loss, fever, night sweats)
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| <span class="blue-text">EXAMPLE:</span> Fatigue
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| <span class="blue-text">EXAMPLE:</span> Lymphadenopathy (uncommon)
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| |'''Laboratory Findings'''
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| |<span class="blue-text">EXAMPLE:</span> Cytopenias
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| <span class="blue-text">EXAMPLE:</span> Lymphocytosis (low level)
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| |}
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| <blockquote class='blockedit'>{{Box-round|title=v4:Clinical Features|The content below was from the old template. Please incorporate above.}}</blockquote>
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| 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>
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| <blockquote class="blockedit">
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| <center><span style="color:Maroon">'''End of V4 Section'''</span>
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| ----
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| </blockquote>
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| ==Sites of Involvement==
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| Similar to systemic mastocytosis and associated neoplasms.
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| ==Morphologic Features==
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| Similar to systemic mastocytosis and associated neoplasms.
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| ==Immunophenotype==
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| 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>
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| {| class="wikitable sortable"
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| !Finding!!Marker
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| |Positive (universal)||<span class="blue-text">EXAMPLE:</span> CD1
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| |Positive (subset)||<span class="blue-text">EXAMPLE:</span> CD2
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| |Negative (universal)||<span class="blue-text">EXAMPLE:</span> CD3
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| |Negative (subset)||<span class="blue-text">EXAMPLE:</span> CD4
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| |} | | |} |
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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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| |}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. |
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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.}}</blockquote> | | <blockquote class="blockedit">{{Box-round|title=v4:Gene Mutations (SNV/INDEL)|The content below was from the old template. Please incorporate above.}}</blockquote> |
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| 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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| (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 /> |
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| ==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]] |
