HAEM5:Acute megakaryoblastic leukaemia: 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> | ||
*Common manifestations include cytopenias (often thrombocytopenia)<ref name=":0" />. | *Common manifestations include cytopenias (often thrombocytopenia)<ref name=":0" />. | ||
*An association between acute megakaryoblastic leukemia and mediastrinal germ cell tumors has been described<ref>{{Cite journal|last=Nichols|first=C. R.|last2=Roth|first2=B. J.|last3=Heerema|first3=N.|last4=Griep|first4=J.|last5=Tricot|first5=G.|date=1990|title=Hematologic neoplasia associated with primary mediastinal germ-cell tumors|url=https://www.ncbi.nlm.nih.gov/pubmed/2158625|journal=The New England Journal of Medicine|volume=322|issue=20|pages=1425–1429|doi=10.1056/NEJM199005173222004|issn=0028-4793|pmid=2158625}}</ref>. | *An association between acute megakaryoblastic leukemia and mediastrinal germ cell tumors has been described<ref>{{Cite journal|last=Nichols|first=C. R.|last2=Roth|first2=B. J.|last3=Heerema|first3=N.|last4=Griep|first4=J.|last5=Tricot|first5=G.|date=1990|title=Hematologic neoplasia associated with primary mediastinal germ-cell tumors|url=https://www.ncbi.nlm.nih.gov/pubmed/2158625|journal=The New England Journal of Medicine|volume=322|issue=20|pages=1425–1429|doi=10.1056/NEJM199005173222004|issn=0028-4793|pmid=2158625}}</ref>. | ||
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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> | ||
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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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*The prognosis of AMKL is usually poorer than that of other AML types, [[HAEM5:Acute myeloid leukaemia with RBM15::MRTFA fusion]], and [[HAEM5:Myeloid proliferations associated with Down syndrome]]<ref name=":0" /><ref>{{Cite journal|last=Oki|first=Yasuhiro|last2=Kantarjian|first2=Hagop M.|last3=Zhou|first3=Xian|last4=Cortes|first4=Jorge|last5=Faderl|first5=Stefan|last6=Verstovsek|first6=Srdan|last7=O'Brien|first7=Susan|last8=Koller|first8=Charles|last9=Beran|first9=Miloslav|date=2006|title=Adult acute megakaryocytic leukemia: an analysis of 37 patients treated at M.D. Anderson Cancer Center|url=https://www.ncbi.nlm.nih.gov/pubmed/16123215|journal=Blood|volume=107|issue=3|pages=880–884|doi=10.1182/blood-2005-06-2450|issn=0006-4971|pmid=16123215}}</ref>. | *The prognosis of AMKL is usually poorer than that of other AML types, [[HAEM5:Acute myeloid leukaemia with RBM15::MRTFA fusion]], and [[HAEM5:Myeloid proliferations associated with Down syndrome]]<ref name=":0" /><ref>{{Cite journal|last=Oki|first=Yasuhiro|last2=Kantarjian|first2=Hagop M.|last3=Zhou|first3=Xian|last4=Cortes|first4=Jorge|last5=Faderl|first5=Stefan|last6=Verstovsek|first6=Srdan|last7=O'Brien|first7=Susan|last8=Koller|first8=Charles|last9=Beran|first9=Miloslav|date=2006|title=Adult acute megakaryocytic leukemia: an analysis of 37 patients treated at M.D. Anderson Cancer Center|url=https://www.ncbi.nlm.nih.gov/pubmed/16123215|journal=Blood|volume=107|issue=3|pages=880–884|doi=10.1182/blood-2005-06-2450|issn=0006-4971|pmid=16123215}}</ref>. | ||
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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> | ||
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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> | ||
*No unique chromosomal abnormality is associated with AMKL. | *No unique chromosomal abnormality is associated with AMKL. | ||
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*Isochromosome 12p is often observed in young males with mediatinal germ tumors and AMKL<ref>{{Cite journal|last=Orazi|first=A.|last2=Neiman|first2=R. S.|last3=Ulbright|first3=T. M.|last4=Heerema|first4=N. A.|last5=John|first5=K.|last6=Nichols|first6=C. R.|date=1993|title=Hematopoietic precursor cells within the yolk sac tumor component are the source of secondary hematopoietic malignancies in patients with mediastinal germ cell tumors|url=https://www.ncbi.nlm.nih.gov/pubmed/8389653|journal=Cancer|volume=71|issue=12|pages=3873–3881|doi=10.1002/1097-0142(19930615)71:123.0.co;2-1|issn=0008-543X|pmid=8389653}}</ref>. | *Isochromosome 12p is often observed in young males with mediatinal germ tumors and AMKL<ref>{{Cite journal|last=Orazi|first=A.|last2=Neiman|first2=R. S.|last3=Ulbright|first3=T. M.|last4=Heerema|first4=N. A.|last5=John|first5=K.|last6=Nichols|first6=C. R.|date=1993|title=Hematopoietic precursor cells within the yolk sac tumor component are the source of secondary hematopoietic malignancies in patients with mediastinal germ cell tumors|url=https://www.ncbi.nlm.nih.gov/pubmed/8389653|journal=Cancer|volume=71|issue=12|pages=3873–3881|doi=10.1002/1097-0142(19930615)71:123.0.co;2-1|issn=0008-543X|pmid=8389653}}</ref>. | ||
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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> | ||
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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> | ||
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==Genetic Diagnostic Testing Methods== | ==Genetic Diagnostic Testing Methods== | ||