HAEM5:Acute myeloid leukaemia, myelodysplasia-related: 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> | ||
AML-MRC often presents with severe pancytopenia. Cases with 20-29% blasts may present a stable clinical course and slow progression similar to that of MDS than that of AML. | AML-MRC often presents with severe pancytopenia. Cases with 20-29% blasts may present a stable clinical course and slow progression similar to that of MDS than that of AML. | ||
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==Sites of Involvement== | ==Sites of Involvement== | ||
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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> | ||
Balanced translocations are less common in AML-MRC, and often involve 5q32-33 and 11q23.3. | Balanced translocations are less common in AML-MRC, and often involve 5q32-33 and 11q23.3. | ||
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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> | ||
Diagnosis | Diagnosis | ||
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*Mutations in spliceosome gene U2AF1 are associated with trilineage morphologic dysplasia, absence of clinical remission, poor overall survival and poor disease-free survival<ref name=":4" />. | *Mutations in spliceosome gene U2AF1 are associated with trilineage morphologic dysplasia, absence of clinical remission, poor overall survival and poor disease-free survival<ref name=":4" />. | ||
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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> | ||
Genomic copy number gain or loss have not been described in AML-MRC currently. There is a case report describing isochromosome 17q and LOH in a patient with AML-MRC, whose clinical presentation involved extreme thrombocytosis<ref>{{Cite journal|last=You|first=Eunkyoung|last2=Cho|first2=Sun Young|last3=Yang|first3=John Jeongseok|last4=Lee|first4=Hee Joo|last5=Lee|first5=Woo-In|last6=Lee|first6=Juhie|last7=Cho|first7=Kyung Sam|last8=Cho|first8=Eun Hae|last9=Park|first9=Tae Sung|date=2015|title=A novel case of extreme thrombocytosis in acute myeloid leukemia associated with isochromosome 17q and copy neutral loss of heterozygosity|url=https://www.ncbi.nlm.nih.gov/pubmed/25932448|journal=Annals of Laboratory Medicine|volume=35|issue=3|pages=366–369|doi=10.3343/alm.2015.35.3.366|issn=2234-3814|pmc=4390708|pmid=25932448}}</ref>. | Genomic copy number gain or loss have not been described in AML-MRC currently. There is a case report describing isochromosome 17q and LOH in a patient with AML-MRC, whose clinical presentation involved extreme thrombocytosis<ref>{{Cite journal|last=You|first=Eunkyoung|last2=Cho|first2=Sun Young|last3=Yang|first3=John Jeongseok|last4=Lee|first4=Hee Joo|last5=Lee|first5=Woo-In|last6=Lee|first6=Juhie|last7=Cho|first7=Kyung Sam|last8=Cho|first8=Eun Hae|last9=Park|first9=Tae Sung|date=2015|title=A novel case of extreme thrombocytosis in acute myeloid leukemia associated with isochromosome 17q and copy neutral loss of heterozygosity|url=https://www.ncbi.nlm.nih.gov/pubmed/25932448|journal=Annals of Laboratory Medicine|volume=35|issue=3|pages=366–369|doi=10.3343/alm.2015.35.3.366|issn=2234-3814|pmc=4390708|pmid=25932448}}</ref>. | ||
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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> | ||
Cytogenetic abnormalities sufficient for the diagnosis of AML-MRC when ≥20% peripheral blood or bone marrow blasts are present and prior therapy has been excluded: | Cytogenetic abnormalities sufficient for the diagnosis of AML-MRC when ≥20% peripheral blood or bone marrow blasts are present and prior therapy has been excluded: | ||
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t(3;5)(q25.3;q35.1) | t(3;5)(q25.3;q35.1) | ||
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==Gene Mutations (SNV / INDEL)== | ==Gene Mutations (SNV / INDEL)== | ||
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Somatic genetic mutations commonly found in AML or MDS have been reported in AML-MRC. There are no characteristic genetic mutations fully specific for this entity. The most frequently mutated genes reported in AML-MRC are listed below. | Somatic genetic mutations commonly found in AML or MDS have been reported in AML-MRC. There are no characteristic genetic mutations fully specific for this entity. The most frequently mutated genes reported in AML-MRC are listed below. | ||
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==Epigenomic Alterations== | ==Epigenomic Alterations== | ||