HAEM5:Systemic mastocytosis: Difference between revisions
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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 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> | 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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<center><span style="color:Maroon">'''End of V4 Section'''</span> | |||
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==Sites of Involvement== | ==Sites of Involvement== | ||
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* Individual Region Genomic Gain/Loss/LOH | * Individual Region Genomic Gain/Loss/LOH | ||
* Characteristic Chromosomal Patterns | * Characteristic Chromosomal Patterns | ||
* Gene Mutations (SNV/INDEL)}} | * Gene Mutations (SNV/INDEL)}}</blockquote> | ||
In systemic mastocytosis cases, an associated haematological neoplasm can be diagnosed before, simultaneously, or after. Any defined myeloid or lymphoid malignancy can occur as an associated haematological neoplasm, but most commonly myeloid neoplasms predominate, with chronic myelomonocytic leukaemia and myelodysplastic/myeloproliferative neoplasm, and unclassifiable are seen {1694,1696,1697, 3735,3751,3793}. | In systemic mastocytosis cases, an associated haematological neoplasm can be diagnosed before, simultaneously, or after. Any defined myeloid or lymphoid malignancy can occur as an associated haematological neoplasm, but most commonly myeloid neoplasms predominate, with chronic myelomonocytic leukaemia and myelodysplastic/myeloproliferative neoplasm, and unclassifiable are seen {1694,1696,1697, 3735,3751,3793}. | ||
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The activating KIT D816V mutation is seen in most cases of SM-AHN, and usually this mutation is detectable in the systemic mastocytosis compartment and in the AHN cells. Additional mutations in other genes (e.g. TET2, SRSF2, ASXL1, CBL, RUNX1 and the RAS family of oncogenes) may also be detected depending based on the type of AHN. And these mutations will impact on the prognosis. | The activating KIT D816V mutation is seen in most cases of SM-AHN, and usually this mutation is detectable in the systemic mastocytosis compartment and in the AHN cells. Additional mutations in other genes (e.g. TET2, SRSF2, ASXL1, CBL, RUNX1 and the RAS family of oncogenes) may also be detected depending based on the type of AHN. And these mutations will impact on the prognosis. | ||
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<center><span style="color:Maroon">'''End of V4 Section'''</span> | |||
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==Individual Region Genomic Gain / Loss / LOH== | ==Individual Region Genomic Gain / Loss / LOH== | ||
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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 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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<center><span style="color:Maroon">'''End of V4 Section'''</span> | |||
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==Epigenomic Alterations== | ==Epigenomic Alterations== | ||