HAEM5:Myelodysplastic/myeloproliferative neoplasm with neutrophilia: 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 primary symptoms are related to splenomegaly and blood cell changes like anemia and/or thrombocytopenia<ref name=":1" /><ref name=":3">{{Cite journal|last=R|first=Kurzrock|last2=Ce|first2=Bueso-Ramos|last3=H|first3=Kantarjian|last4=E|first4=Freireich|last5=Sl|first5=Tucker|last6=M|first6=Siciliano|last7=S|first7=Pilat|last8=M|first8=Talpaz|date=2001|title=BCR Rearrangement-Negative Chronic Myelogenous Leukemia Revisited|url=https://pubmed.ncbi.nlm.nih.gov/11387365/|language=en|pmid=11387365}}</ref><ref name=":2" />. | The primary symptoms are related to splenomegaly and blood cell changes like anemia and/or thrombocytopenia<ref name=":1" /><ref name=":3">{{Cite journal|last=R|first=Kurzrock|last2=Ce|first2=Bueso-Ramos|last3=H|first3=Kantarjian|last4=E|first4=Freireich|last5=Sl|first5=Tucker|last6=M|first6=Siciliano|last7=S|first7=Pilat|last8=M|first8=Talpaz|date=2001|title=BCR Rearrangement-Negative Chronic Myelogenous Leukemia Revisited|url=https://pubmed.ncbi.nlm.nih.gov/11387365/|language=en|pmid=11387365}}</ref><ref name=":2" />. | ||
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==Sites of Involvement== | ==Sites of Involvement== | ||
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<blockquote class='blockedit'>{{Box-round|title=v4:Immunophenotype|The content below was from the old template. Please incorporate above.}} | <blockquote class='blockedit'>{{Box-round|title=v4:Immunophenotype|The content below was from the old template. Please incorporate above.}}</blockquote> | ||
No specific immunophenotypic characteristics (flow cytometric analysis of blood and bone marrow usually report as normal, except mildly increased myeloblasts in some cases). | No specific immunophenotypic characteristics (flow cytometric analysis of blood and bone marrow usually report as normal, except mildly increased myeloblasts in some cases). | ||
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==Chromosomal Rearrangements (Gene Fusions)== | ==Chromosomal Rearrangements (Gene Fusions)== | ||
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<blockquote class='blockedit'>{{Box-round|title=v4:Chromosomal Rearrangements (Gene Fusions)|The content below was from the old template. Please incorporate above.}} | <blockquote class='blockedit'>{{Box-round|title=v4:Chromosomal Rearrangements (Gene Fusions)|The content below was from the old template. Please incorporate above.}}</blockquote> | ||
None. | None. | ||
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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> | ||
Genetic abnormalities and mutations in related genes provide evidence of a clonal process to support a neoplastic process. However, they are not specific for aCML. | Genetic abnormalities and mutations in related genes provide evidence of a clonal process to support a neoplastic process. However, they are not specific for aCML. | ||
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*Increased blasts in blood and/or bone marrow. | *Increased blasts in blood and/or bone marrow. | ||
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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:Genomic Gain/Loss/LOH|The content below was from the old template. Please incorporate above.}} | <blockquote class='blockedit'>{{Box-round|title=v4:Genomic Gain/Loss/LOH|The content below was from the old template. Please incorporate above.}}</blockquote> | ||
Karyotypic abnormalities are reported in as many as 80% of cases. | Karyotypic abnormalities are reported in as many as 80% of cases. | ||
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*Isolated isochromosome 17q rare (most present with features of [[HAEM5:Chronic myelomonocytic leukaemia|CMML]] instead of aCML). | *Isolated isochromosome 17q rare (most present with features of [[HAEM5:Chronic myelomonocytic leukaemia|CMML]] instead of aCML). | ||
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==Characteristic Chromosomal Patterns== | ==Characteristic Chromosomal Patterns== | ||
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<blockquote class='blockedit'>{{Box-round|title=v4:Characteristic Chromosomal Aberrations / Patterns|The content below was from the old template. Please incorporate above.}} | <blockquote class='blockedit'>{{Box-round|title=v4:Characteristic Chromosomal Aberrations / Patterns|The content below was from the old template. Please incorporate above.}}</blockquote> | ||
None. | None. | ||
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==Gene Mutations (SNV / INDEL)== | ==Gene Mutations (SNV / INDEL)== | ||
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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> | ||
{| class="wikitable sortable" | {| class="wikitable sortable" | ||
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Mutations in ''TET2, ASXL1, EZH2'' and ''SRSF2'' (overlapping with [[HAEM5:Chronic myelomonocytic leukaemia|CMML]]) are not uncommon in aCML<ref>{{Cite journal|last=Faisal|first=Muhammad|last2=Stark|first2=Helge|last3=Büsche|first3=Guntram|last4=Schlue|first4=Jerome|last5=Teiken|first5=Kristin|last6=Kreipe|first6=Hans H.|last7=Lehmann|first7=Ulrich|last8=Bartels|first8=Stephan|date=2019|title=Comprehensive mutation profiling and mRNA expression analysis in atypical chronic myeloid leukemia in comparison with chronic myelomonocytic leukemia|url=http://doi.wiley.com/10.1002/cam4.1946|journal=Cancer Medicine|language=en|volume=8|issue=2|pages=742–750|doi=10.1002/cam4.1946|pmc=PMC6382710|pmid=30635983}}</ref>. | Mutations in ''TET2, ASXL1, EZH2'' and ''SRSF2'' (overlapping with [[HAEM5:Chronic myelomonocytic leukaemia|CMML]]) are not uncommon in aCML<ref>{{Cite journal|last=Faisal|first=Muhammad|last2=Stark|first2=Helge|last3=Büsche|first3=Guntram|last4=Schlue|first4=Jerome|last5=Teiken|first5=Kristin|last6=Kreipe|first6=Hans H.|last7=Lehmann|first7=Ulrich|last8=Bartels|first8=Stephan|date=2019|title=Comprehensive mutation profiling and mRNA expression analysis in atypical chronic myeloid leukemia in comparison with chronic myelomonocytic leukemia|url=http://doi.wiley.com/10.1002/cam4.1946|journal=Cancer Medicine|language=en|volume=8|issue=2|pages=742–750|doi=10.1002/cam4.1946|pmc=PMC6382710|pmid=30635983}}</ref>. | ||
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==Epigenomic Alterations== | ==Epigenomic Alterations== | ||
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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.}} | <blockquote class='blockedit'>{{Box-round|title=v4:Genes and Main Pathways Involved|The content below was from the old template. Please incorporate above.}}</blockquote> | ||
Frequently involved: | Frequently involved: | ||
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*PI3K/AKT and MAPK/ERK (CSF3R) | *PI3K/AKT and MAPK/ERK (CSF3R) | ||
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==Genetic Diagnostic Testing Methods== | ==Genetic Diagnostic Testing Methods== | ||