Difference between revisions of "HAEM5:Acute myelomonocytic leukaemia"

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{{DISPLAYTITLE:Acute myelomonocytic leukaemia}}
 
{{DISPLAYTITLE:Acute myelomonocytic leukaemia}}
−
[[HAEM5:Table_of_Contents|Haematolymphoid Tumours (WHO Classification, 5th ed.)]]
+
[[HAEM5:Table_of_Contents|Haematolymphoid Tumours (5th ed.)]]
  
 
{{Under Construction}}
 
{{Under Construction}}
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}}</blockquote>
 
}}</blockquote>
  
−
<span style="color:#0070C0">(General Instructions – The main focus of these pages is the clinically significant genetic alterations in each disease type. Use [https://www.genenames.org/ <u>HUGO-approved gene names and symbols</u>] (italicized when appropriate), [https://varnomen.hgvs.org/ HGVS-based nomenclature for variants], as well as generic names of drugs and testing platforms or assays if applicable. Please complete tables whenever possible and do not delete them (add N/A if not applicable in the table and delete the examples); to add (or move) a row or column to a table, click nearby within the table and select the > symbol that appears to be given options. Please do not delete or alter the section headings. The use of bullet points alongside short blocks of text rather than only large paragraphs is encouraged. Additional instructions below in italicized blue text should not be included in the final page content. Please also see </span><u>[[Author_Instructions]]</u><span style="color:#0070C0"> and [[Frequently Asked Questions (FAQs)|<u>FAQs</u>]] as well as contact your [[Leadership|<u>Associate Editor</u>]] or [mailto:CCGA@cancergenomics.org <u>Technical Support</u>])</span>
+
<span style="color:#0070C0">(General Instructions – The main focus of these pages is the clinically significant genetic alterations in each disease type. Use [https://www.genenames.org/ <u>HUGO-approved gene names and symbols</u>] (italicized when appropriate), [https://varnomen.hgvs.org/ HGVS-based nomenclature for variants], as well as generic names of drugs and testing platforms or assays if applicable. Please complete tables whenever possible and do not delete them (add N/A if not applicable in the table and delete the examples). Please do not delete or alter the section headings. The use of bullet points alongside short blocks of text rather than only large paragraphs is encouraged. Additional instructions below in italicized blue text should not be included in the final page content. Please also see </span><u>[[Author_Instructions]]</u><span style="color:#0070C0"> and [[Frequently Asked Questions (FAQs)|<u>FAQs</u>]] as well as contact your [[Leadership|<u>Associate Editor</u>]] or [mailto:CCGA@cancergenomics.org <u>Technical Support</u>])</span>
  
 
==Primary Author(s)*==
 
==Primary Author(s)*==
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==Clinical Features==
 
==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>
+
Put your text here and fill in the table <span style="color:#0070C0">(''Instruction: Can include references in the table'') </span>
 
{| class="wikitable"
 
{| class="wikitable"
 
|'''Signs and Symptoms'''
 
|'''Signs and Symptoms'''
−
|<span class="blue-text">EXAMPLE:</span> Asymptomatic (incidental finding on complete blood counts)
+
|EXAMPLE Asymptomatic (incidental finding on complete blood counts)
  
−
<span class="blue-text">EXAMPLE:</span> B-symptoms (weight loss, fever, night sweats)
+
EXAMPLE B-symptoms (weight loss, fever, night sweats)
  
−
<span class="blue-text">EXAMPLE:</span> Fatigue
+
EXAMPLE Fatigue
  
−
<span class="blue-text">EXAMPLE:</span> Lymphadenopathy (uncommon)
+
EXAMPLE Lymphadenopathy (uncommon)
 
|-
 
|-
 
|'''Laboratory Findings'''
 
|'''Laboratory Findings'''
−
|<span class="blue-text">EXAMPLE:</span> Cytopenias
+
|EXAMPLE Cytopenias
  
−
<span class="blue-text">EXAMPLE:</span> Lymphocytosis (low level)
+
EXAMPLE Lymphocytosis (low level)
 
|}
 
|}
  
  
−
<blockquote class='blockedit'>{{Box-round|title=HAEM5 Conversion Notes|Content Update To WHO 5th Edition Classification Is In Process; Content Below is Based on WHO 4th Edition Classification}}
+
<blockquote class='blockedit'>{{Box-round|title=v4:Clinical Features|The content below was from the old template. Please incorporate above.}}
  
 
The common clinical presentations are related to anaemia and thrombocytopenia, including fever, pallor, dyspnea, fatigue, loss of weight and bleeding disorders.
 
The common clinical presentations are related to anaemia and thrombocytopenia, including fever, pallor, dyspnea, fatigue, loss of weight and bleeding disorders.
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!Finding!!Marker
 
!Finding!!Marker
 
|-
 
|-
−
|Positive (universal)||<span class="blue-text">EXAMPLE:</span> CD1
+
|Positive (universal)||EXAMPLE CD1
 
|-
 
|-
−
|Positive (subset)||<span class="blue-text">EXAMPLE:</span> CD2
+
|Positive (subset)||EXAMPLE CD2
 
|-
 
|-
−
|Negative (universal)||<span class="blue-text">EXAMPLE:</span> CD3
+
|Negative (universal)||EXAMPLE CD3
 
|-
 
|-
−
|Negative (subset)||<span class="blue-text">EXAMPLE:</span> CD4
+
|Negative (subset)||EXAMPLE CD4
 
|}
 
|}
  
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!Notes
 
!Notes
 
|-
 
|-
−
|<span class="blue-text">EXAMPLE:</span> t(9;22)(q34;q11.2)||<span class="blue-text">EXAMPLE:</span> 3'ABL1 / 5'BCR||<span class="blue-text">EXAMPLE:</span> der(22)||<span class="blue-text">EXAMPLE:</span> 20% (COSMIC)
+
|EXAMPLE t(9;22)(q34;q11.2)||EXAMPLE 3'ABL1 / 5'BCR||EXAMPLE der(22)||EXAMPLE 20% (COSMIC)
−
<span class="blue-text">EXAMPLE:</span> 30% (add reference)
+
EXAMPLE 30% (add reference)
 
|Yes
 
|Yes
 
|No
 
|No
 
|Yes
 
|Yes
−
|<span class="blue-text">EXAMPLE:</span>
+
|EXAMPLE
  
 
The t(9;22) is diagnostic of CML in the appropriate morphology and clinical context (add reference). This fusion is responsive to targeted therapy such as Imatinib (Gleevec) (add reference).
 
The t(9;22) is diagnostic of CML in the appropriate morphology and clinical context (add reference). This fusion is responsive to targeted therapy such as Imatinib (Gleevec) (add reference).
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−
<blockquote class='blockedit'>{{Box-round|title=HAEM5 Conversion Notes|Content Update To WHO 5th Edition Classification Is In Process; Content Below is Based on WHO 4th Edition Classification}}
+
<blockquote class='blockedit'>{{Box-round|title=v4:Chromosomal Rearrangements (Gene Fusions)|The content below was from the old template. Please incorporate above.}}
  
 
*None
 
*None
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==Individual Region Genomic Gain / Loss / LOH==
 
==Individual Region Genomic Gain / Loss / LOH==
  
−
Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Includes aberrations not involving gene fusions. Can include references in the table. Can refer to CGC workgroup tables as linked on the homepage if applicable. Do not delete table.'') </span>
+
Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Includes aberrations not involving gene fusions. Can include references in the table. Can refer to CGC workgroup tables as linked on the homepage if applicable.'') </span>
  
 
{| class="wikitable sortable"
 
{| class="wikitable sortable"
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!Notes
 
!Notes
 
|-
 
|-
−
|<span class="blue-text">EXAMPLE:</span>
+
|EXAMPLE
  
 
7
 
7
−
|<span class="blue-text">EXAMPLE:</span> Loss
+
|EXAMPLE Loss
−
|<span class="blue-text">EXAMPLE:</span>
+
|EXAMPLE
  
 
chr7:1- 159,335,973 [hg38]
 
chr7:1- 159,335,973 [hg38]
−
|<span class="blue-text">EXAMPLE:</span>
+
|EXAMPLE
  
 
chr7
 
chr7
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|Yes
 
|Yes
 
|No
 
|No
−
|<span class="blue-text">EXAMPLE:</span>
+
|EXAMPLE
  
 
Presence of monosomy 7 (or 7q deletion) is sufficient for a diagnosis of AML with MDS-related changes when there is ≥20% blasts and no prior therapy (add reference).  Monosomy 7/7q deletion is associated with a poor prognosis in AML (add reference).
 
Presence of monosomy 7 (or 7q deletion) is sufficient for a diagnosis of AML with MDS-related changes when there is ≥20% blasts and no prior therapy (add reference).  Monosomy 7/7q deletion is associated with a poor prognosis in AML (add reference).
 
|-
 
|-
−
|<span class="blue-text">EXAMPLE:</span>
+
|EXAMPLE
  
 
8
 
8
−
|<span class="blue-text">EXAMPLE:</span> Gain
+
|EXAMPLE Gain
−
|<span class="blue-text">EXAMPLE:</span>
+
|EXAMPLE
  
 
chr8:1-145,138,636 [hg38]
 
chr8:1-145,138,636 [hg38]
−
|<span class="blue-text">EXAMPLE:</span>
+
|EXAMPLE
  
 
chr8
 
chr8
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|No
 
|No
 
|No
 
|No
−
|<span class="blue-text">EXAMPLE:</span>
+
|EXAMPLE
  
 
Common recurrent secondary finding for t(8;21) (add reference).
 
Common recurrent secondary finding for t(8;21) (add reference).
 
|}
 
|}
  
−
<blockquote class='blockedit'>{{Box-round|title=HAEM5 Conversion Notes|Content Update To WHO 5th Edition Classification Is In Process; Content Below is Based on WHO 4th Edition Classification}}
+
<blockquote class='blockedit'>{{Box-round|title=v4:Genomic Gain/Loss/LOH|The content below was from the old template. Please incorporate above.}}
 
None
 
None
  
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==Characteristic Chromosomal Patterns==
 
==Characteristic Chromosomal Patterns==
  
−
Put your text here <span style="color:#0070C0">(''EXAMPLE PATTERNS: hyperdiploid; gain of odd number chromosomes including typically chromosome 1, 3, 5, 7, 11, and 17; co-deletion of 1p and 19q; complex karyotypes without characteristic genetic findings; chromothripsis. Do not delete table.'')</span>
+
Put your text here <span style="color:#0070C0">(''EXAMPLE PATTERNS: hyperdiploid; gain of odd number chromosomes including typically chromosome 1, 3, 5, 7, 11, and 17; co-deletion of 1p and 19q; complex karyotypes without characteristic genetic findings; chromothripsis'')</span>
  
 
{| class="wikitable sortable"
 
{| class="wikitable sortable"
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!Notes
 
!Notes
 
|-
 
|-
−
|<span class="blue-text">EXAMPLE:</span>
+
|EXAMPLE
  
 
Co-deletion of 1p and 18q
 
Co-deletion of 1p and 18q
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|No
 
|No
 
|No
 
|No
−
|<span class="blue-text">EXAMPLE:</span>
+
|EXAMPLE:
  
 
See chromosomal rearrangements table as this pattern is due to an unbalanced derivative translocation associated with oligodendroglioma (add reference).
 
See chromosomal rearrangements table as this pattern is due to an unbalanced derivative translocation associated with oligodendroglioma (add reference).
 
|}
 
|}
  
−
<blockquote class='blockedit'>{{Box-round|title=HAEM5 Conversion Notes|Content Update To WHO 5th Edition Classification Is In Process; Content Below is Based on WHO 4th Edition Classification}}
+
<blockquote class='blockedit'>{{Box-round|title=v4:Characteristic Chromosomal Aberrations / Patterns|The content below was from the old template. Please incorporate above.}}
  
 
Myeloid-associated nonspecific cytogenetic abnormalities, such as trisomy 8, are present in most cases.
 
Myeloid-associated nonspecific cytogenetic abnormalities, such as trisomy 8, are present in most cases.
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==Gene Mutations (SNV / INDEL)==
 
==Gene Mutations (SNV / INDEL)==
  
−
Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: This table is not meant to be an exhaustive list; please include only genes/alterations that are recurrent and common as well as either disease defining and/or clinically significant. Can include references in the table. For clinical significance, denote associations with FDA-approved therapy (not an extensive list of applicable drugs) and NCCN or other national guidelines if applicable. Can also refer to CGC workgroup tables as linked on the homepage if applicable as well as any high impact papers or reviews of gene mutations in this entity. Do not delete table.'') </span>
+
Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: This table is not meant to be an exhaustive list; please include only genes/alterations that are recurrent and common as well either disease defining and/or clinically significant. Can include references in the table. For clinical significance, denote associations with FDA-approved therapy (not an extensive list of applicable drugs) and NCCN or other national guidelines if applicable; Can also refer to CGC workgroup tables as linked on the homepage if applicable as well as any high impact papers or reviews of gene mutations in this entity.'') </span>
  
 
{| class="wikitable sortable"
 
{| class="wikitable sortable"
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!Notes
 
!Notes
 
|-
 
|-
−
|<span class="blue-text">EXAMPLE:</span> TP53; Variable LOF mutations
+
|EXAMPLE: TP53; Variable LOF mutations
  
−
<span class="blue-text">EXAMPLE:</span>
+
EXAMPLE:
  
 
EGFR; Exon 20 mutations
 
EGFR; Exon 20 mutations
  
−
<span class="blue-text">EXAMPLE:</span> BRAF; Activating mutations
+
EXAMPLE: BRAF; Activating mutations
−
|<span class="blue-text">EXAMPLE:</span> TSG
+
|EXAMPLE: TSG
−
|<span class="blue-text">EXAMPLE:</span> 20% (COSMIC)
+
|EXAMPLE: 20% (COSMIC)
  
−
<span class="blue-text">EXAMPLE:</span> 30% (add Reference)
+
EXAMPLE: 30% (add Reference)
−
|<span class="blue-text">EXAMPLE:</span> IDH1 R123H
+
|EXAMPLE: IDH1 R123H
−
|<span class="blue-text">EXAMPLE:</span> EGFR amplification
+
|EXAMPLE: EGFR amplification
 
|
 
|
 
|
 
|
 
|
 
|
−
|<span class="blue-text">EXAMPLE:</span>  Excludes hairy cell leukemia (HCL) (add reference).
+
|EXAMPLE:  Excludes hairy cell leukemia (HCL) (add reference).
 
<br />
 
<br />
 
|}
 
|}
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−
<blockquote class='blockedit'>{{Box-round|title=HAEM5 Conversion Notes|Content Update To WHO 5th Edition Classification Is In Process; Content Below is Based on WHO 4th Edition Classification}}
+
<blockquote class='blockedit'>{{Box-round|title=v4:Gene Mutations (SNV/INDEL)|The content below was from the old template. Please incorporate above.}}
  
 
Acute myelomonocytic leukemia has genetic heterogeneity at the molecular level.  Currently there is no specific gene identified that is frequently associated with this subset of AML.
 
Acute myelomonocytic leukemia has genetic heterogeneity at the molecular level.  Currently there is no specific gene identified that is frequently associated with this subset of AML.
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!Gene!!Mutation!!Oncogene/Tumor Suppressor/Other!!Presumed Mechanism (LOF/GOF/Other; Driver/Passenger)!!Prevalence (COSMIC/TCGA/Other)
 
!Gene!!Mutation!!Oncogene/Tumor Suppressor/Other!!Presumed Mechanism (LOF/GOF/Other; Driver/Passenger)!!Prevalence (COSMIC/TCGA/Other)
 
|-
 
|-
−
|<span class="blue-text">EXAMPLE:</span> TP53||<span class="blue-text">EXAMPLE:</span> R273H||<span class="blue-text">EXAMPLE:</span> Tumor Suppressor||<span class="blue-text">EXAMPLE:</span> LOF||<span class="blue-text">EXAMPLE:</span> 20%
+
|EXAMPLE TP53||EXAMPLE R273H||EXAMPLE Tumor Suppressor||EXAMPLE LOF||EXAMPLE 20%
 
|}
 
|}
 
 
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!Type!!Gene/Region/Other
 
!Type!!Gene/Region/Other
 
|-
 
|-
−
|Concomitant Mutations||<span class="blue-text">EXAMPLE:</span> IDH1 R123H
+
|Concomitant Mutations||EXAMPLE IDH1 R123H
 
|-
 
|-
−
|Secondary Mutations||<span class="blue-text">EXAMPLE:</span> Trisomy 7
+
|Secondary Mutations||EXAMPLE Trisomy 7
 
|-
 
|-
−
|Mutually Exclusive||<span class="blue-text">EXAMPLE:</span> EGFR Amplification
+
|Mutually Exclusive||EXAMPLE EGFR Amplification
 
|}
 
|}
  
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==Genes and Main Pathways Involved==
 
==Genes and Main Pathways Involved==
  
−
Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Can include references in the table. Do not delete table.'')</span>
+
Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Can include references in the table.'')</span>
 
{| class="wikitable sortable"
 
{| class="wikitable sortable"
 
|-
 
|-
 
!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome
 
!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome
 
|-
 
|-
−
|<span class="blue-text">EXAMPLE:</span> BRAF and MAP2K1; Activating mutations
+
|EXAMPLE: BRAF and MAP2K1; Activating mutations
−
|<span class="blue-text">EXAMPLE:</span> MAPK signaling
+
|EXAMPLE: MAPK signaling
−
|<span class="blue-text">EXAMPLE:</span> Increased cell growth and proliferation
+
|EXAMPLE: Increased cell growth and proliferation
 
|-
 
|-
−
|<span class="blue-text">EXAMPLE:</span> CDKN2A; Inactivating mutations
+
|EXAMPLE: CDKN2A; Inactivating mutations
−
|<span class="blue-text">EXAMPLE:</span> Cell cycle regulation
+
|EXAMPLE: Cell cycle regulation
−
|<span class="blue-text">EXAMPLE:</span> Unregulated cell division
+
|EXAMPLE: Unregulated cell division
 
|-
 
|-
−
|<span class="blue-text">EXAMPLE:</span>  KMT2C and ARID1A; Inactivating mutations
+
|EXAMPLE:  KMT2C and ARID1A; Inactivating mutations
−
|<span class="blue-text">EXAMPLE:</span>  Histone modification, chromatin remodeling
+
|EXAMPLE:  Histone modification, chromatin remodeling
−
|<span class="blue-text">EXAMPLE:</span>  Abnormal gene expression program
+
|EXAMPLE:  Abnormal gene expression program
 
|}
 
|}
  
−
<blockquote class='blockedit'>{{Box-round|title=HAEM5 Conversion Notes|Content Update To WHO 5th Edition Classification Is In Process; Content Below is Based on WHO 4th Edition Classification}}
+
<blockquote class='blockedit'>{{Box-round|title=v4:Genes and Main Pathways Involved|The content below was from the old template. Please incorporate above.}}
  
 
None
 
None
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==Links==
 
==Links==
  
−
Put your text placeholder here (or anywhere appropriate on the page) and use the "Link" icon at the top of the page <span style="color:#0070C0">(''Instructions: Highlight text to which you want to add a link in this section or elsewhere, select the "Link" icon at the top of the page, and search the name of the internal page to which you want to link this text, or enter an external internet address by including the "<nowiki>http://www</nowiki>." portion.'')</span>
+
Put your text placeholder here (or anywhere appropriate on the page) and use the "Link" icon at the top of the page <span style="color:#0070C0">(''Instructions: Once you have a text placeholder entered to which you want to add a link, highlight that text, select the "Link" icon at the top of the page, and search the name of the internal page to which you want to link this text, or enter an external internet address including the "<nowiki>http://www</nowiki>." portion.'')</span>
  
 
==References==
 
==References==

Revision as of 14:51, 6 September 2024

Haematolymphoid Tumours (5th ed.)

editHAEM5 Conversion Notes
This page was converted to the new template on 2023-12-07. The original page can be found at HAEM4:Acute Myelomonocytic Leukemia.

(General Instructions – The main focus of these pages is the clinically significant genetic alterations in each disease type. Use HUGO-approved gene names and symbols (italicized when appropriate), HGVS-based nomenclature for variants, as well as generic names of drugs and testing platforms or assays if applicable. Please complete tables whenever possible and do not delete them (add N/A if not applicable in the table and delete the examples). Please do not delete or alter the section headings. The use of bullet points alongside short blocks of text rather than only large paragraphs is encouraged. Additional instructions below in italicized blue text should not be included in the final page content. Please also see Author_Instructions and FAQs as well as contact your Associate Editor or Technical Support)

Primary Author(s)*

Fei Yang, MD, FACMG
Oregon Health & Science University, Portland, OR

Cancer Category / Type

Acute Myeloid Leukemia

Cancer Sub-Classification / Subtype

Acute myelomonocytic leukemia

Definition / Description of Disease

Acute myelomonocytic leukemia is an acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors. The peripheral blood or bone marrow has more than 20% blasts (including promonocytes). A minimum of 20% monocytes and their precursors is required for the morphological diagnosis, differentiating this entity from cases of AML with or without maturation that can present with a low-level of monocytes. In the 2016 revision to the World Health Organization (WHO) classification system, acute myelomonocytic leukemia is a distinct entity within the section of HAEM4:Acute Myeloid Leukemia (AML), Not Otherwise Specified[1][2]. 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).

Synonyms / Terminology

French-American-Brirish (FAB) classification M4, NOS

Epidemiology / Prevalence

Approximately 5-10% of AML cases, 3% of childhood leukemia

  • occurs in all age groups, but is more common in older individuals.
  • median patient age is 50 years
  • male-to-female ratio is 1.4:1

Clinical Features

Put your text here and fill in the table (Instruction: Can include references in the table)

Signs and Symptoms EXAMPLE Asymptomatic (incidental finding on complete blood counts)

EXAMPLE B-symptoms (weight loss, fever, night sweats)

EXAMPLE Fatigue

EXAMPLE Lymphadenopathy (uncommon)

Laboratory Findings EXAMPLE Cytopenias

EXAMPLE Lymphocytosis (low level)


editv4:Clinical Features
The content below was from the old template. Please incorporate above.

The common clinical presentations are related to anaemia and thrombocytopenia, including fever, pallor, dyspnea, fatigue, loss of weight and bleeding disorders.

Sites of Involvement

Bone marrow

Morphologic Features

  • Monoblasts are large cells with abundant cytoplasm, which can be moderately to intensely basophillic, and round nuclei with delicate lacy chromatin and one or more predominant nucleoli; scattered azurophillic granuoles, vacuoles, and Auer rods may be present.
  • Promonocytes have a more irregular and delicately convoluted nuclear configuration and cytoplasm which is usually less basophillic and more granulated.
  • The peripheral blood typically shows an increase in monocytes, which are often more mature than those in the bone marrow.

Immunophenotype

Cytochemistry

  • ≥3% of blasts show myeloperoxidase (MPO) activity.
  • Monoblasts, promonocytes and monocytes usually show non-specific esterase activity.

Often a complex immunophenotype with multiple blast populations seen including:

  • immature blasts with high CD34 and/or KIT (CD117) expression
  • populations with myeloid markers: CD13, CD33, CD15, CD65 and MPO
  • populations with monocytic markers: CD4, CD11b, CD11c, CD14, CD64, CD36, CD68 (PGM1), CD163 and lysozyme
  • most cases are positive for HLA-DR
  • approximately 30% of cases are positive for CD7
Finding Marker
Positive (universal) EXAMPLE CD1
Positive (subset) EXAMPLE CD2
Negative (universal) EXAMPLE CD3
Negative (subset) EXAMPLE CD4

Chromosomal Rearrangements (Gene Fusions)

Put your text here and fill in the table

Chromosomal Rearrangement Genes in Fusion (5’ or 3’ Segments) Pathogenic Derivative Prevalence Diagnostic Significance (Yes, No or Unknown) Prognostic Significance (Yes, No or Unknown) Therapeutic Significance (Yes, No or Unknown) Notes
EXAMPLE t(9;22)(q34;q11.2) EXAMPLE 3'ABL1 / 5'BCR EXAMPLE der(22) EXAMPLE 20% (COSMIC)

EXAMPLE 30% (add reference)

Yes No Yes EXAMPLE

The t(9;22) is diagnostic of CML in the appropriate morphology and clinical context (add reference). This fusion is responsive to targeted therapy such as Imatinib (Gleevec) (add reference).


editv4:Chromosomal Rearrangements (Gene Fusions)
The content below was from the old template. Please incorporate above.

Individual Region Genomic Gain / Loss / LOH

Put your text here and fill in the table (Instructions: Includes aberrations not involving gene fusions. Can include references in the table. Can refer to CGC workgroup tables as linked on the homepage if applicable.)

Chr # Gain / Loss / Amp / LOH Minimal Region Genomic Coordinates [Genome Build] Minimal Region Cytoband Diagnostic Significance (Yes, No or Unknown) Prognostic Significance (Yes, No or Unknown) Therapeutic Significance (Yes, No or Unknown) Notes
EXAMPLE

7

EXAMPLE Loss EXAMPLE

chr7:1- 159,335,973 [hg38]

EXAMPLE

chr7

Yes Yes No EXAMPLE

Presence of monosomy 7 (or 7q deletion) is sufficient for a diagnosis of AML with MDS-related changes when there is ≥20% blasts and no prior therapy (add reference).  Monosomy 7/7q deletion is associated with a poor prognosis in AML (add reference).

EXAMPLE

8

EXAMPLE Gain EXAMPLE

chr8:1-145,138,636 [hg38]

EXAMPLE

chr8

No No No EXAMPLE

Common recurrent secondary finding for t(8;21) (add reference).

editv4:Genomic Gain/Loss/LOH
The content below was from the old template. Please incorporate above.

None

Characteristic Chromosomal Patterns

Put your text here (EXAMPLE PATTERNS: hyperdiploid; gain of odd number chromosomes including typically chromosome 1, 3, 5, 7, 11, and 17; co-deletion of 1p and 19q; complex karyotypes without characteristic genetic findings; chromothripsis)

Chromosomal Pattern Diagnostic Significance (Yes, No or Unknown) Prognostic Significance (Yes, No or Unknown) Therapeutic Significance (Yes, No or Unknown) Notes
EXAMPLE

Co-deletion of 1p and 18q

Yes No No EXAMPLE:

See chromosomal rearrangements table as this pattern is due to an unbalanced derivative translocation associated with oligodendroglioma (add reference).

editv4:Characteristic Chromosomal Aberrations / Patterns
The content below was from the old template. Please incorporate above.

Myeloid-associated nonspecific cytogenetic abnormalities, such as trisomy 8, are present in most cases.

Gene Mutations (SNV / INDEL)

Put your text here and fill in the table (Instructions: This table is not meant to be an exhaustive list; please include only genes/alterations that are recurrent and common as well either disease defining and/or clinically significant. Can include references in the table. For clinical significance, denote associations with FDA-approved therapy (not an extensive list of applicable drugs) and NCCN or other national guidelines if applicable; Can also refer to CGC workgroup tables as linked on the homepage if applicable as well as any high impact papers or reviews of gene mutations in this entity.)

Gene; Genetic Alteration Presumed Mechanism (Tumor Suppressor Gene [TSG] / Oncogene / Other) Prevalence (COSMIC / TCGA / Other) Concomitant Mutations Mutually Exclusive Mutations Diagnostic Significance (Yes, No or Unknown) Prognostic Significance (Yes, No or Unknown) Therapeutic Significance (Yes, No or Unknown) Notes
EXAMPLE: TP53; Variable LOF mutations

EXAMPLE:

EGFR; Exon 20 mutations

EXAMPLE: BRAF; Activating mutations

EXAMPLE: TSG EXAMPLE: 20% (COSMIC)

EXAMPLE: 30% (add Reference)

EXAMPLE: IDH1 R123H EXAMPLE: EGFR amplification EXAMPLE:  Excludes hairy cell leukemia (HCL) (add reference).


Note: A more extensive list of mutations can be found in cBioportal (https://www.cbioportal.org/), COSMIC (https://cancer.sanger.ac.uk/cosmic), ICGC (https://dcc.icgc.org/) and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content.


editv4:Gene Mutations (SNV/INDEL)
The content below was from the old template. Please incorporate above.

Acute myelomonocytic leukemia has genetic heterogeneity at the molecular level. Currently there is no specific gene identified that is frequently associated with this subset of AML.

Gene Mutation Oncogene/Tumor Suppressor/Other Presumed Mechanism (LOF/GOF/Other; Driver/Passenger) Prevalence (COSMIC/TCGA/Other)
EXAMPLE TP53 EXAMPLE R273H EXAMPLE Tumor Suppressor EXAMPLE LOF EXAMPLE 20%

Other Mutations

Type Gene/Region/Other
Concomitant Mutations EXAMPLE IDH1 R123H
Secondary Mutations EXAMPLE Trisomy 7
Mutually Exclusive EXAMPLE EGFR Amplification

Epigenomic Alterations

None

Genes and Main Pathways Involved

Put your text here and fill in the table (Instructions: Can include references in the table.)

Gene; Genetic Alteration Pathway Pathophysiologic Outcome
EXAMPLE: BRAF and MAP2K1; Activating mutations EXAMPLE: MAPK signaling EXAMPLE: Increased cell growth and proliferation
EXAMPLE: CDKN2A; Inactivating mutations EXAMPLE: Cell cycle regulation EXAMPLE: Unregulated cell division
EXAMPLE:  KMT2C and ARID1A; Inactivating mutations EXAMPLE:  Histone modification, chromatin remodeling EXAMPLE:  Abnormal gene expression program
editv4:Genes and Main Pathways Involved
The content below was from the old template. Please incorporate above.

None

Genetic Diagnostic Testing Methods

  • Conventional chromosome analysis
  • FISH myeloid panel

Familial Forms

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Additional Information

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Links

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References

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  1. ↑ 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. World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, Revised 4th edition. IARC Press: Lyon, France, p159-160.
  2. ↑ Arber, Daniel A.; et al. (2016). "The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia". Blood. 127 (20): 2391–2405. doi:10.1182/blood-2016-03-643544. ISSN 1528-0020. PMID 27069254.

Notes

*Primary authors will typically be those that initially create and complete the content of a page.  If a subsequent user modifies the content and feels the effort put forth is of high enough significance to warrant listing in the authorship section, please contact the CCGA coordinators (contact information provided on the homepage).  Additional global feedback or concerns are also welcome. *Citation of this Page: “Acute myelomonocytic leukaemia”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated 09/6/2024, https://ccga.io/index.php/HAEM5:Acute_myelomonocytic_leukaemia.

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