HAEM5:Acute myeloid leukaemia, myelodysplasia-related: Difference between revisions

{{DISPLAYTITLE:Acute myeloid leukaemia, myelodysplasia-related}}

[[HAEM5:Table_of_Contents|Haematolymphoid Tumours (WHO Classification, 5th ed.)]]

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|Subtype(s)

|Acute myeloid leukaemia, myelodysplasia-related

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Balanced translocations are less common in AML-MRC, and often involve 5q32-33 and 11q23.3.

* Chromosomal Rearrangements (Gene Fusions)

* Individual Region Genomic Gain/Loss/LOH

*FCI assessment of granulocytes and monocytes, in addition to blasts, may be valuable in aid distinguishing AML-MRC from AML-NOS<ref>{{Cite journal|last=Weinberg|first=Olga K.|last2=Sohani|first2=Aliyah R.|last3=Bhargava|first3=Parul|last4=Nardi|first4=Valentina|date=2017|title=Diagnostic work-up of acute myeloid leukemia|url=https://www.ncbi.nlm.nih.gov/pubmed/28066929|journal=American Journal of Hematology|volume=92|issue=3|pages=317–321|doi=10.1002/ajh.24648|issn=1096-8652|pmid=28066929}}</ref>.

*Differential diagnosis are MDS with excess blasts, pure erythroid leukemia, acute megakaryoblastic leukemia and AML-NOS<ref name=":0" /><ref name=":1" />.

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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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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:

|}Note: A more extensive list of mutations can be found in [https://www.cbioportal.org/ <u>cBioportal</u>], [https://cancer.sanger.ac.uk/cosmic <u>COSMIC</u>], and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content.

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.  

(use the "Cite" icon at the top of the page) <span style="color:#0070C0">(''Instructions: Add each reference into the text above by clicking where you want to insert the reference, selecting the “Cite” icon at the top of the wiki page, and using the “Automatic” tab option to search by PMID to select the reference to insert. If a PMID is not available, such as for a book, please use the “Cite” icon, select “Manual” and then “Basic Form”, and include the entire reference. To insert the same reference again later in the page, select the “Cite” icon and “Re-use” to find the reference; DO NOT insert the same reference twice using the “Automatic” tab as it will be treated as two separate references. The reference list in this section will be automatically generated and sorted''</span><span style="color:#0070C0">''.''</span><span style="color:#0070C0">)</span> <references />

==Notes==

          

<nowiki>*</nowiki>''Citation of this Page'': “Acute myeloid leukaemia, myelodysplasia-related”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/HAEM5:Acute_myeloid_leukaemia,_myelodysplasia-related</nowiki>.