HAEM5:Myelodysplastic/myeloproliferative neoplasm, NOS: 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> | ||
*Overlap with [[HAEM4:Myelodysplastic Syndromes (MDS)|MDS]] and [[HAEM4:Myeloproliferative Neoplasms (MPN)|MPN]] <ref name=":0" /> | *Overlap with [[HAEM4:Myelodysplastic Syndromes (MDS)|MDS]] and [[HAEM4:Myeloproliferative Neoplasms (MPN)|MPN]] <ref name=":0" /> | ||
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*Does not have features that define it as belonging to any of the other categories of MDS/MPN <ref name=":0" /><ref name=":1" /> | *Does not have features that define it as belonging to any of the other categories of MDS/MPN <ref name=":0" /><ref name=":1" /> | ||
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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> | ||
May be similar to that of [[HAEM4:Myelodysplastic Syndromes (MDS)|MDS]] or [[HAEM4:Myeloproliferative Neoplasms (MPN)|MPN]] <ref name=":0" /> | May be similar to that of [[HAEM4:Myelodysplastic Syndromes (MDS)|MDS]] or [[HAEM4:Myeloproliferative Neoplasms (MPN)|MPN]] <ref name=":0" /> | ||
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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 identified | *None identified | ||
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*Absence of ''PDGFRA'', ''PDGFRB'' and ''FGFR1'' rearrangements, absence of ''PCM1-JAK2'' fusion <ref name=":0" /> | *Absence of ''PDGFRA'', ''PDGFRB'' and ''FGFR1'' rearrangements, absence of ''PCM1-JAK2'' fusion <ref name=":0" /> | ||
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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> | ||
*Prognosis is variable and not well documented <ref name=":0" /> | *Prognosis is variable and not well documented <ref name=":0" /> | ||
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*“Treatment is based on therapies used for MDS or MPN and is guided by symptoms and/or cytopenias” and can include growth factors for leukocytosis or cytoreductive therapies for cytopenias <ref name=":0" />. | *“Treatment is based on therapies used for MDS or MPN and is guided by symptoms and/or cytopenias” and can include growth factors for leukocytosis or cytoreductive therapies for cytopenias <ref name=":0" />. | ||
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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> | ||
One study identified very few recurrent gains and losses below the level of cytogenetic detection <ref name=":3" />. | One study identified very few recurrent gains and losses below the level of cytogenetic detection <ref name=":3" />. | ||
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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 specific to MDS/MPN-U | *None specific to MDS/MPN-U | ||
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*Excludes any case with isolated del(5q) (even if ''JAK2'' is mutated) <ref name=":0" /> - these should be classified as MDS with isolated del(5q). | *Excludes any case with isolated del(5q) (even if ''JAK2'' is mutated) <ref name=":0" /> - these should be classified as MDS with isolated del(5q). | ||
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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> | ||
Amongst the MDS/MPN subtypes, MDS/MPN-U has the most heterogeneous mutation profile. In one study it was most strongly correlated with ''U2AF1'' and ''TP53'' mutations <ref name=":3" />. | Amongst the MDS/MPN subtypes, MDS/MPN-U has the most heterogeneous mutation profile. In one study it was most strongly correlated with ''U2AF1'' and ''TP53'' mutations <ref name=":3" />. | ||
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There is a significant likelihood of AML developing if there is ''ASXL1'' and ''SRSF2'' co-mutation <ref name=":2" />. | There is a significant likelihood of AML developing if there is ''ASXL1'' and ''SRSF2'' co-mutation <ref name=":2" />. | ||
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==Epigenomic Alterations== | ==Epigenomic Alterations== | ||
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*Major drivers / early mutations in epigenetic regulators (''ASXL1, TET2)'' and splicing factors (''SRSF2'') <ref name=":2" /> <ref name=":3" /> | *Major drivers / early mutations in epigenetic regulators (''ASXL1, TET2)'' and splicing factors (''SRSF2'') <ref name=":2" /> <ref name=":3" /> | ||
*Secondary mutations in signaling pathway genes (''JAK2'') <ref name=":3" /> | *Secondary mutations in signaling pathway genes (''JAK2'') <ref name=":3" /> | ||
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==Genetic Diagnostic Testing Methods== | ==Genetic Diagnostic Testing Methods== | ||