Compendium of Cancer Genome Aberrations

HAEM5:Acute myeloid leukaemia without maturation: Difference between revisions

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{{DISPLAYTITLE:Acute myeloid leukaemia without maturation}}
{{DISPLAYTITLE:Acute myeloid leukaemia without maturation}}
[[HAEM5:Table_of_Contents|Haematolymphoid Tumours (WHO Classification, 5th ed.)]]
[[HAEM5:Table_of_Contents|Haematolymphoid Tumours (WHO Classification, 5th ed.)]]


{{Under Construction}}
{{Under Construction}}


<blockquote class='blockedit'>{{Box-round|title=Content Update To WHO 5th Edition Classification Is In Process; Content Below is Based on WHO 4th Edition Classification|This page was converted to the new template on 2023-12-07. The original page can be found at [[HAEM4:Acute Myeloid Leukemia (AML) without Maturation]].
<blockquote class="blockedit">{{Box-round|title=Content Update To WHO 5th Edition Classification Is In Process; Content Below is Based on WHO 4th Edition Classification|This page was converted to the new template on 2023-12-07. The original page can be found at [[HAEM4:Acute Myeloid Leukemia (AML) without Maturation]].
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|Subtype(s)
|Subtype(s)
|Acute myeloid leukaemia without maturation
|Acute myeloid leukaemia without maturation
|}
==Definition / Description of Disease==
This is a distinct entity in the World Health Organization (WHO) classification system within the section of [[HAEM4:Acute Myeloid Leukemia (AML), Not Otherwise Specified]]<ref name=":0">Arber DA, et al., (2017). Acute myeloid leukaemia with recurrent genetic abnormalities, in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, Revised 4th edition. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Arber DA, Hasserjian RP, Le Beau MM, Orazi A, and Siebert R, Editors. IARC Press: Lyon, France, p157-158.</ref>.  This entity does ''not'' meet the criteria for inclusion in any of the other AML groups (i.e. AML with Recurrent Genetic Abnormalities, AML with Myelodysplasia-Related Changes, or Therapy-Related Myeloid Neoplasms).  There is currently no known recurrent chromosomal abnormality associated with this entity<ref name=":0" />.
==Synonyms / Terminology==
American-British (FAB) classification M1 [1].
==Epidemiology / Prevalence==
Accounts for 5-10% of AML, occurring mostly in adults (median age of ~46 years)<ref name=":0" />.
==Clinical Features==
Put your text here and fill in the table <span style="color:#0070C0">(''Instruction: Can include references in the table. Do not delete table.'') </span>
{| class="wikitable"
|'''Signs and Symptoms'''
|<span class="blue-text">EXAMPLE:</span> Asymptomatic (incidental finding on complete blood counts)
<span class="blue-text">EXAMPLE:</span> B-symptoms (weight loss, fever, night sweats)
<span class="blue-text">EXAMPLE:</span> Fatigue
<span class="blue-text">EXAMPLE:</span> Lymphadenopathy (uncommon)
|-
|'''Laboratory Findings'''
|<span class="blue-text">EXAMPLE:</span> Cytopenias
<span class="blue-text">EXAMPLE:</span> Lymphocytosis (low level)
|}
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Usually presents with symptoms of bone marrow failure, including anemia, thrombocytopenia and neutropenia.  There is also variability in the white blood cell and blast counts, which can include leukocytosis with markedly increased blasts<ref name=":0" />.
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==Sites of Involvement==
Bone marrow
==Morphologic Features==
This AML subtype is characterized by the presence in the bone marrow of a high percentage of myeloid blasts without significant evidence of maturation; specifically, <10% of the nucleated bone marrow cells represent maturing cells of the granulocytic lineage<ref name=":0" />.  Cases are typically markedly hypercellular (range also includes normocellular and hypocellular) and can involve myeloblasts with azurophilic granules and/or Auer rods, while other cases present with cells resembling lymphoblasts that lack azurophilic granules<ref name=":0" />.
==Immunophenotype==
The characteristic immunophenotype associated with this entity is listed in the table below.  The myeloid nature of the blasts includes an immunophenotype positive for MPO or SBB in ≥3% of the blasts and/or the presence of Auer rods, as well as typically positivity for one or more myeloid-associated antigens<ref name=":0" />.
{| class="wikitable sortable"
|-
!Finding!!Marker
|-
|Positive (universal)||Myeloperoxidase (MPO), Sudan Black B (SBB), one or more of CD13, CD33 and/or KIT(CD117)
|-
|Positive (subset)||CD34 and HLA-DR (only 70%), CD11b
|-
|Negative (universal)||Granulocytic maturation markers (CD15, CD65), Monocytic markers (CD14, CD64), B-cell and T-cell cytoplasmic lymphoid markers (cCD3, cCD79a, cCD22)
|-
|Negative (subset)||CD7 (only 30%), Lymphoid-associated membrane markers (CD2, CD4, CD19, CD56; only 10-20%)
|}
|}


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There is currently no known recurrent chromosomal abnormality associated with this entity.
There is currently no known recurrent chromosomal abnormality associated with this entity.
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<blockquote class='blockedit'>{{Box-round|title=v4:Clinical Significance (Diagnosis, Prognosis and Therapeutic Implications).|Please incorporate this section into the relevant tables found in:
<blockquote class="blockedit">{{Box-round|title=v4:Clinical Significance (Diagnosis, Prognosis and Therapeutic Implications).|Please incorporate this section into the relevant tables found in:
* Chromosomal Rearrangements (Gene Fusions)
* Chromosomal Rearrangements (Gene Fusions)
* Individual Region Genomic Gain/Loss/LOH
* Individual Region Genomic Gain/Loss/LOH
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* Gene Mutations (SNV/INDEL)}}</blockquote>
* Gene Mutations (SNV/INDEL)}}</blockquote>


The differential diagnosis includes 1) Lymphoblastic Leukemia in the presence of blast cells lacking granules or in cases with a low percentage of MPO-positive blasts and 2) AML with Maturation in cases with a higher percentage of MPO-positive blasts<ref name=":0" />.  
The differential diagnosis includes 1) Lymphoblastic Leukemia in the presence of blast cells lacking granules or in cases with a low percentage of MPO-positive blasts and 2) AML with Maturation in cases with a higher percentage of MPO-positive blasts<ref name=":0">Arber DA, et al., (2017). Acute myeloid leukaemia with recurrent genetic abnormalities, in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, Revised 4th edition. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Arber DA, Hasserjian RP, Le Beau MM, Orazi A, and Siebert R, Editors. IARC Press: Lyon, France, p157-158.</ref>.  


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There is currently no known recurrent chromosomal abnormality associated with this entity.
There is currently no known recurrent chromosomal abnormality associated with this entity.
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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>
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There is currently no known recurrent chromosomal abnormality associated with this entity.
There is currently no known recurrent chromosomal abnormality associated with this entity.
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|}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.
|}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.


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Currently there is currently no known recurrent gene mutations associated with this entity.
Currently there is currently no known recurrent gene mutations associated with this entity.
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Unknown
Unknown
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(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 />
(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 />


'''
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==Notes==
==Notes==
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<nowiki>*</nowiki>''Citation of this Page'': “Acute myeloid leukaemia without maturation”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/HAEM5:Acute_myeloid_leukaemia_without_maturation</nowiki>.
<nowiki>*</nowiki>''Citation of this Page'': “Acute myeloid leukaemia without maturation”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/HAEM5:Acute_myeloid_leukaemia_without_maturation</nowiki>.
[[Category:HAEM5]][[Category:DISEASE]][[Category:Diseases A]]
[[Category:HAEM5]]
[[Category:DISEASE]]
[[Category:Diseases A]]
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