HAEM4:Acute Myeloid Leukemia (AML) with Maturation - Revision history

Bailey.Glen at 21:28, 4 December 2023

2023-12-04T21:28:12Z

← Older revision		Revision as of 16:28, 4 December 2023
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	==Definition / Description of Disease==		==Definition / Description of Disease==

	This is a distinct entity in the World Health Organization (WHO) classification system within the section of [[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, p158-159.</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" />.		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, p158-159.</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==		==Synonyms / Terminology==
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	==Morphologic Features==		==Morphologic Features==

	This AML subtype is characterized by the presence of ≥20% blasts in the bone marrow or blood combined with evidence of maturation in the bone marrow; specifically, ≥10% maturing cells of granulocytic lineage and <20% cells of monocyte lineage<ref name=":0" />. The blasts may or may not have azurophilic granulation but Auer rods and hypercullularity are typically observed. Bone marrow cell constitution includes ≥10% promyelocytes, myelocytes and mature nuetrophils, as well as elevated eosinophil precursors which lack the cytological or cytochemical abnormalities characteristic of the abnormal eosinophils in [[Acute ~~Myeloid Leukemia (AML)~~ with ~~inv(16)(p13.1q22) or t(16;16)(p13.1;q22);~~ CBFB-MYH11]]. Basophils and mast calls are sometimes increased, and variable dysplasia occurs but ≤50% of cells in two lineages show dysplasia.		This AML subtype is characterized by the presence of ≥20% blasts in the bone marrow or blood combined with evidence of maturation in the bone marrow; specifically, ≥10% maturing cells of granulocytic lineage and <20% cells of monocyte lineage<ref name=":0" />. The blasts may or may not have azurophilic granulation but Auer rods and hypercullularity are typically observed. Bone marrow cell constitution includes ≥10% promyelocytes, myelocytes and mature nuetrophils, as well as elevated eosinophil precursors which lack the cytological or cytochemical abnormalities characteristic of the abnormal eosinophils in [[HAEM5:Acute myeloid leukaemia with CBFB::MYH11 fusion]]. Basophils and mast calls are sometimes increased, and variable dysplasia occurs but ≤50% of cells in two lineages show dysplasia.

	==Immunophenotype==		==Immunophenotype==
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	==Clinical Significance (Diagnosis, Prognosis and Therapeutic Implications)==		==Clinical Significance (Diagnosis, Prognosis and Therapeutic Implications)==

	The differential diagnosis includes 1) MDS with excess blasts in cases with a low blast percentage, 2) AML without Maturation in cases with a high blast percentage, and 3) [[Acute ~~Myelomonocytic Leukemia~~]] in cases with increased monocytes. Of note, [[Acute Myeloid Leukemia (AML) with t(8;21)(q22;q22.1);RUNX1-RUNX1T1]] typically has overlapping histologic features as AML with Maturation, but the former should be classified according to its genetic abnormality (i.e. as a subcategory of the entity [[Acute Myeloid Leukemia (AML) with Recurrent Genetic Abnormalities]]).		The differential diagnosis includes 1) MDS with excess blasts in cases with a low blast percentage, 2) AML without Maturation in cases with a high blast percentage, and 3) [[HAEM5:Acute myelomonocytic leukaemia]] in cases with increased monocytes. Of note, [[Acute Myeloid Leukemia (AML) with t(8;21)(q22;q22.1);RUNX1-RUNX1T1]] typically has overlapping histologic features as AML with Maturation, but the former should be classified according to its genetic abnormality (i.e. as a subcategory of the entity [[HAEM4:Acute Myeloid Leukemia (AML) with Recurrent Genetic Abnormalities]]).

	==Familial Forms==		==Familial Forms==

Bailey.Glen at 18:46, 3 November 2023

2023-11-03T18:46:53Z

← Older revision		Revision as of 13:46, 3 November 2023
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			{{DISPLAYTITLE:Acute Myeloid Leukemia (AML) with Maturation}}


			<blockquote class='blockedit'>{{Box-round\|title=PREVIOUS EDITION\|This page from the 4th edition of Haematolymphoid Tumours is being updated. See 5th edition [[HAEM5:Table_of_Contents\|Table of Contents]].
			}}</blockquote>
	==Primary Author(s)*==		==Primary Author(s)*==

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	==Notes==		==Notes==
	<nowiki>*</nowiki>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.		<nowiki>*</nowiki>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.
			[[Category:HAEM4]] [[Category:DISEASE]]

	[[Category:~~Recently Added Pages~~]]

Bailey.Glen: Created page with "==Primary Author(s)*== Jennelle C. Hodge, PhD, FACMG TOC ==Cancer Category/Type== Acute Myeloid Leukemia ==Cancer Sub-Classification / Subtype== Acute myeloi..."

2023-11-03T18:06:18Z

Created page with "==Primary Author(s)*== Jennelle C. Hodge, PhD, FACMG __TOC__ ==Cancer Category/Type== Acute Myeloid Leukemia ==Cancer Sub-Classification / Subtype== Acute myeloi..."

New page

==Primary Author(s)*==

Jennelle C. Hodge, PhD, FACMG

__TOC__

==Cancer Category/Type==

[[AML|Acute Myeloid Leukemia]]

==Cancer Sub-Classification / Subtype==

Acute myeloid leukemia (AML) with maturation

==Definition / Description of Disease==

This is a distinct entity in the World Health Organization (WHO) classification system within the section of [[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, p158-159.</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 M2<ref name=":0" />.

==Epidemiology / Prevalence==

Accounts for 10% of AML, occurring in all ages including 20% in young patients (<25 years old) and 40% in older patients (≥60 years old)<ref name=":0" />.

==Clinical Features==

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<ref name=":0" />.

==Sites of Involvement==

Bone marrow, Blood

==Morphologic Features==

This AML subtype is characterized by the presence of ≥20% blasts in the bone marrow or blood combined with evidence of maturation in the bone marrow; specifically, ≥10% maturing cells of granulocytic lineage and <20% cells of monocyte lineage<ref name=":0" />. The blasts may or may not have azurophilic granulation but Auer rods and hypercullularity are typically observed. Bone marrow cell constitution includes ≥10% promyelocytes, myelocytes and mature nuetrophils, as well as elevated eosinophil precursors which lack the cytological or cytochemical abnormalities characteristic of the abnormal eosinophils in [[Acute Myeloid Leukemia (AML) with inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11]]. Basophils and mast calls are sometimes increased, and variable dysplasia occurs but ≤50% of cells in two lineages show dysplasia.

==Immunophenotype==

The characteristic immunophenotype associated with this entity is listed in the table below. The blasts express one or more of the myeloid-associated antigens, in some cases have a pattern associated with granulocytic differentiation, and typically lack monocytic markers<ref name=":0" />.

{| class="wikitable sortable"
|-
!Finding!!Marker
|-
|Positive (universal)||Myeloid-associated antigens (CD13, CD33, CD65, CD11b, and/or CD15)
|-
|Positive (subset)||KIT(CD117), CD34 and HLA-DR may be present in some blasts
|-
|Negative (universal)||Monocytic markers (CD14, CD36, CD64)
|-
|Negative (subset)||CD7 (20-30%), CD56, CD2, CD19 and CD4 are uncommon (~10%; may be found only in immature blasts)
|}

==Chromosomal Rearrangements (Gene Fusions)==

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

{| class="wikitable sortable"
|-
!Chromosomal Rearrangement!!Genes in Fusion (5’ or 3’ Segments)!!Pathogenic Derivative!!Prevalence
|-
|EXAMPLE t(9;22)(q34;q11.2)||EXAMPLE 3'ABL1 / 5'BCR||EXAMPLE der(22)||EXAMPLE 5%
|-
|EXAMPLE t(8;21)(q22;q22)||EXAMPLE 5'RUNX1 / 3'RUNXT1||EXAMPLE der(8)||EXAMPLE 5%
|}

==Characteristic Chromosomal Aberrations / Patterns==

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

==Genomic Gain/Loss/LOH==

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

{| class="wikitable sortable"
|-
!Chromosome Number!!Gain/Loss/Amp/LOH!!Region
|-
|EXAMPLE 8||EXAMPLE Gain||EXAMPLE chr8:0-1000000
|-
|EXAMPLE 7||EXAMPLE Loss||EXAMPLE chr7:0-1000000
|}

==Gene Mutations (SNV/INDEL)==

Currently there is currently no known recurrent gene mutations associated with this entity.

{| class="wikitable sortable"
|-
!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===
{| class="wikitable sortable"
|-
!Type!!Gene/Region/Other
|-
|Concomitant Mutations||EXAMPLE IDH1 R123H
|-
|Secondary Mutations||EXAMPLE Trisomy 7
|-
|Mutually Exclusive||EXAMPLE EGFR Amplification
|}

==Epigenomics (Methylation)==

Not applicable

==Genes and Main Pathways Involved==

Unknown

==Diagnostic Testing Methods==

Histology and immunophenotype

==Clinical Significance (Diagnosis, Prognosis and Therapeutic Implications)==

The differential diagnosis includes 1) MDS with excess blasts in cases with a low blast percentage, 2) AML without Maturation in cases with a high blast percentage, and 3) [[Acute Myelomonocytic Leukemia]] in cases with increased monocytes. Of note, [[Acute Myeloid Leukemia (AML) with t(8;21)(q22;q22.1);RUNX1-RUNX1T1]] typically has overlapping histologic features as AML with Maturation, but the former should be classified according to its genetic abnormality (i.e. as a subcategory of the entity [[Acute Myeloid Leukemia (AML) with Recurrent Genetic Abnormalities]]).

==Familial Forms==

No familial forms currently known.

==Other Information==

Put your text here

==Links==

Put your links here

==References==
<references />

==Notes==
<nowiki>*</nowiki>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.

[[Category:Recently Added Pages]]

HAEM4:Acute Myeloid Leukemia (AML) with Maturation - Revision history

Bailey.Glen at 21:28, 4 December 2023

Bailey.Glen at 18:46, 3 November 2023

Bailey.Glen: Created page with "==Primary Author(s)*== Jennelle C. Hodge, PhD, FACMG __TOC__ ==Cancer Category/Type== Acute Myeloid Leukemia ==Cancer Sub-Classification / Subtype== Acute myeloi..."

Bailey.Glen: Created page with "==Primary Author(s)*== Jennelle C. Hodge, PhD, FACMG TOC ==Cancer Category/Type== Acute Myeloid Leukemia ==Cancer Sub-Classification / Subtype== Acute myeloi..."