HAEM4:Acute Monoblastic and Monocytic Leukemia - Revision history

Bailey.Glen at 21:28, 4 December 2023

2023-12-04T21:28:13Z

← Older revision		Revision as of 16:28, 4 December 2023
Line 22:		Line 22:
	==Definition / Description of Disease==		==Definition / Description of Disease==

	Acute monoblastic and monocytic leukemia are myeloid leukemias in which the peripheral blood or bone marrow has ≥20% blasts (including promonocytes) and in which ≥80% of the leukemic cells are of monocytic lineage (monoblasts, promonocytes and monocytes). Neutrophils may be noted (<20%). In acute monoblastic leukemia, most (≥80%) of the monocytic cells are monoblasts; while in acute monocytic leukemia, most of the monocytic cells are promonocytes or monocytes. In the 2016 revision to the World Health Organization (WHO) classification system, acute monoblastic and monocytic leukemia is a distinct entity within the section of [[Acute Myeloid Leukemia (AML), Not Otherwise Specified]]<ref>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, p160-161.</ref><ref name=":0">{{Cite journal\|last=Arber\|first=Daniel A.\|last2=Orazi\|first2=Attilio\|last3=Hasserjian\|first3=Robert\|last4=Thiele\|first4=Jürgen\|last5=Borowitz\|first5=Michael J.\|last6=Le Beau\|first6=Michelle M.\|last7=Bloomfield\|first7=Clara D.\|last8=Cazzola\|first8=Mario\|last9=Vardiman\|first9=James W.\|date=2016\|title=The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia\|url=https://www.ncbi.nlm.nih.gov/pubmed/27069254\|journal=Blood\|volume=127\|issue=20\|pages=2391–2405\|doi=10.1182/blood-2016-03-643544\|issn=1528-0020\|pmid=27069254}}</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).		Acute monoblastic and monocytic leukemia are myeloid leukemias in which the peripheral blood or bone marrow has ≥20% blasts (including promonocytes) and in which ≥80% of the leukemic cells are of monocytic lineage (monoblasts, promonocytes and monocytes). Neutrophils may be noted (<20%). In acute monoblastic leukemia, most (≥80%) of the monocytic cells are monoblasts; while in acute monocytic leukemia, most of the monocytic cells are promonocytes or monocytes. In the 2016 revision to the World Health Organization (WHO) classification system, acute monoblastic and monocytic leukemia is a distinct entity within the section of [[HAEM4:Acute Myeloid Leukemia (AML), Not Otherwise Specified]]<ref>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, p160-161.</ref><ref name=":0">{{Cite journal\|last=Arber\|first=Daniel A.\|last2=Orazi\|first2=Attilio\|last3=Hasserjian\|first3=Robert\|last4=Thiele\|first4=Jürgen\|last5=Borowitz\|first5=Michael J.\|last6=Le Beau\|first6=Michelle M.\|last7=Bloomfield\|first7=Clara D.\|last8=Cazzola\|first8=Mario\|last9=Vardiman\|first9=James W.\|date=2016\|title=The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia\|url=https://www.ncbi.nlm.nih.gov/pubmed/27069254\|journal=Blood\|volume=127\|issue=20\|pages=2391–2405\|doi=10.1182/blood-2016-03-643544\|issn=1528-0020\|pmid=27069254}}</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).

	==Synonyms / Terminology==		==Synonyms / Terminology==

Bailey.Glen at 18:46, 3 November 2023

2023-11-03T18:46:54Z

@@ Line 1: / Line 1: @@
 ==Primary Author(s)*==
@@ Line 174: / Line 179: @@
 ==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:HAEM4]] [[Category:DISEASE]]

Bailey.Glen: Created page with "==Primary Author(s)*== Fei Yang, MD, FACMG
Oregon Health & Science University, Portland, OR TOC ==Cancer Category/Type== Acute Myeloid Leukemia ==Cancer..."

2023-11-03T18:06:19Z

Created page with "==Primary Author(s)*== Fei Yang, MD, FACMG <br> Oregon Health & Science University, Portland, OR __TOC__ ==Cancer Category/Type== Acute Myeloid Leukemia ==Cancer..."

New page

==Primary Author(s)*==

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

__TOC__

==Cancer Category/Type==

[[AML|Acute Myeloid Leukemia]]

==Cancer Sub-Classification / Subtype==

Acute monoblastic and monocytic leukemia

==Definition / Description of Disease==

Acute monoblastic and monocytic leukemia are myeloid leukemias in which the peripheral blood or bone marrow has ≥20% blasts (including promonocytes) and in which ≥80% of the leukemic cells are of monocytic lineage (monoblasts, promonocytes and monocytes). Neutrophils may be noted (<20%). In acute monoblastic leukemia, most (≥80%) of the monocytic cells are monoblasts; while in acute monocytic leukemia, most of the monocytic cells are promonocytes or monocytes. In the 2016 revision to the World Health Organization (WHO) classification system, acute monoblastic and monocytic leukemia is a distinct entity within the section of [[Acute Myeloid Leukemia (AML), Not Otherwise Specified]]<ref>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, p160-161.</ref><ref name=":0">{{Cite journal|last=Arber|first=Daniel A.|last2=Orazi|first2=Attilio|last3=Hasserjian|first3=Robert|last4=Thiele|first4=Jürgen|last5=Borowitz|first5=Michael J.|last6=Le Beau|first6=Michelle M.|last7=Bloomfield|first7=Clara D.|last8=Cazzola|first8=Mario|last9=Vardiman|first9=James W.|date=2016|title=The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia|url=https://www.ncbi.nlm.nih.gov/pubmed/27069254|journal=Blood|volume=127|issue=20|pages=2391–2405|doi=10.1182/blood-2016-03-643544|issn=1528-0020|pmid=27069254}}</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).

==Synonyms / Terminology==

Acute monoblastic leukemia; acute monocytic leukemia; French-American-British (FAB) classification M5, Monoblastic leukemia NOS

==Epidemiology / Prevalence==

Acute monoblastic leukemia:

*less than 5% of AML cases
*more common in young individuals

Acute monocytic leukemia:

*less than 5% of AML cases
*more common in adults; the median patient age is 49 years
*the male-to-female ratio is 1.8:1

==Clinical Features==

*Common manifestations include extramedullary masses, lymphadenopathy, cutaneous and gingival infiltration, CNS involvement and presenting with bleeding disorders<ref name=":0" />
*May present with acute respiratory failure<ref>{{Cite journal|last=Azoulay|first=Elie|last2=Fieux|first2=Fabienne|last3=Moreau|first3=Delphine|last4=Thiery|first4=Guillaume|last5=Rousselot|first5=Philippe|last6=Parrot|first6=Antoine|last7=Le Gall|first7=Jean-Roger|last8=Dombret|first8=Hervé|last9=Schlemmer|first9=Benoît|date=2003|title=Acute monocytic leukemia presenting as acute respiratory failure|url=https://www.ncbi.nlm.nih.gov/pubmed/12574074|journal=American Journal of Respiratory and Critical Care Medicine|volume=167|issue=10|pages=1329–1333|doi=10.1164/rccm.200206-554OC|issn=1073-449X|pmid=12574074}}</ref>

==Sites of Involvement==

Bone marrow; extramedullary sites such as lymph nodes, skin, gingiva, and CNS.

==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 and vacuoles may be present.
*Promonocytes have a more irregular and delicately convoluted nuclear configuration and cytoplasm which is usually less basophillic and more granulated.
*Hemophagocytosis (erythrophagocytosis) may be observed, often associated with t(8;16)(p11.2;p13.3).
*The extramedullary lesion may be composed mainly of monoblasts, promocytes or both.

==Immunophenotype==

Cytochemistry

*Monoblast granules and monocytes are strongly positive for non-specific esterase and lysozyme in most cases
*Monoblasts are typically negative for myeloperoxidase (MPO), although promonocytes may have scattered positivity.

Often a complex immunophenotype with multiple blast populations including:

*immature blasts with CD34 (30% of cases) and/or KIT (CD117) expression
*populations with myeloid markers: CD13, CD33, CD15, CD65
*populations with at least two monocytic markers: CD4, CD14, CD11b, CD11c, CD64, CD36, CD68, and lysozyme
*most cases are positive for HLA-DR
*MPO can be expressed in acute monocytic leukemia and less often in monoblastic leukemia

{| class="wikitable sortable"
|-
!Finding!!Marker
|-
|Positive (universal)||EXAMPLE CD1
|-
|Positive (subset)||EXAMPLE CD2
|-
|Negative (universal)||EXAMPLE CD3
|-
|Negative (subset)||EXAMPLE CD4
|}

==Chromosomal Rearrangements (Gene Fusions)==

{| class="wikitable sortable"
|-
!Chromosomal Rearrangement!!Genes in Fusion (5’ or 3’ Segments)!!Pathogenic Derivative!!Prevalence
|-
|t(8;16)(p11.2;p13.3)||5'KAT6A / 3'CREBBP or 5'CREBBP / 3'KAT6A||der(8) or der(16)||0.2% of AML
|-

|}

==Characteristic Chromosomal Aberrations / Patterns==

Myeloid-associated nonspecific cytogenetic abnormalities are present in most cases.

==Genomic Gain/Loss/LOH==

Put your text here and/or fill in the table

{| 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)==

Put your text here and/or fill in the tables

{| 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)==

None

==Genes and Main Pathways Involved==

Put your text here

==Diagnostic Testing Methods==

*Conventional chromosome analysis
*FISH myeloid panel
*FISH or RT-PCR for KAT6A-CREBBP gene rearrangement

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

Diagnosis

*The main differential diagnoses of acute monoblastic leukemia include: AML without maturation, AML with minimal differentiation, AML with t(9;11)(p21.3;q23.3), and acute megakaryoblastic leukemia (AMKL)<ref name=":0" />. Extramedullary monoblastic sarcoma needs to be differentiated from malignant lymphoma or soft tissue sarcomas<ref name=":0" />.
*The main differential diagnoses of acute monocytic leukemia include: chronic myelomonocytic leukemia, acute myelomonocytic leukemia, and microgranular acute promyelocytic leukamia (APL)<ref name=":0" />.
*Haemophagocytosis (erythrophagocytosis) with t(8;16)(p11.2;p13.3) may also occur in acute myelomonocytic leukemia and some cases of AML with maturation<ref name=":0" />.

Prognosis

*Multiple studies have shown that t(8;16)(p11.2;p13.3) positive AML usually has a poor prognosis<ref>{{Cite journal|last=Heim|first=S.|last2=Avanzi|first2=G. C.|last3=Billström|first3=R.|last4=Kristoffersson|first4=U.|last5=Mandahl|first5=N.|last6=Bekassy|first6=A. N.|last7=Garwicz|first7=S.|last8=Wiebe|first8=T.|last9=Pegoraro|first9=L.|date=1987|title=A new specific chromosomal rearrangement, t(8;16) (p11;p13), in acute monocytic leukaemia|url=https://www.ncbi.nlm.nih.gov/pubmed/3476150|journal=British Journal of Haematology|volume=66|issue=3|pages=323–326|doi=10.1111/j.1365-2141.1987.tb06917.x|issn=0007-1048|pmid=3476150}}</ref><ref>{{Cite journal|last=Haferlach|first=T.|last2=Kohlmann|first2=A.|last3=Klein|first3=H.-U.|last4=Ruckert|first4=C.|last5=Dugas|first5=M.|last6=Williams|first6=P. M.|last7=Kern|first7=W.|last8=Schnittger|first8=S.|last9=Bacher|first9=U.|date=2009|title=AML with translocation t(8;16)(p11;p13) demonstrates unique cytomorphological, cytogenetic, molecular and prognostic features|url=https://www.ncbi.nlm.nih.gov/pubmed/19194466|journal=Leukemia|volume=23|issue=5|pages=934–943|doi=10.1038/leu.2008.388|issn=1476-5551|pmid=19194466}}</ref>.

==Familial Forms==

Put your text here

==Other Information==

Put your text here

==Links==

http://atlasgeneticsoncology.org/Anomalies/t0816ID1018.html

==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:Structural Chromosome Abnormalities in AML]]
[[Category:Structural Abnormalities Chromosome 8]]
[[Category:Structural Abnormalities Chromosome 16]]
[[Category:Translocation Chromosome 8]]
[[Category:Translocation Chromosome 16]]
[[Category:Cancer Genes C]]
[[Category:Cancer Genes K]]
[[Category:Fusion Genes C]]
[[Category:Fusion Genes K]]
[[Category:Recently Added Pages]]

HAEM4:Acute Monoblastic and Monocytic Leukemia - 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)*== Fei Yang, MD, FACMG Oregon Health & Science University, Portland, OR __TOC__ ==Cancer Category/Type== Acute Myeloid Leukemia ==Cancer..."

Bailey.Glen: Created page with "==Primary Author(s)*== Fei Yang, MD, FACMG
Oregon Health & Science University, Portland, OR TOC ==Cancer Category/Type== Acute Myeloid Leukemia ==Cancer..."