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| {{DISPLAYTITLE:Acute myeloid leukaemia with minimal differentiation}} | | {{DISPLAYTITLE:Acute myeloid leukaemia with minimal differentiation}} |
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| [[HAEM5:Table_of_Contents|Haematolymphoid Tumours (WHO Classification, 5th ed.)]] | | [[HAEM5:Table_of_Contents|Haematolymphoid Tumours (WHO Classification, 5th ed.)]] |
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| {{Under Construction}} | | {{Under Construction}} |
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| <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) with Minimal Differentiation]]. | | <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) with Minimal Differentiation]]. |
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| ==Definition / Description of Disease==
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| 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,NOS in WHO 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 Editors. IARC Press: Lyon, France, p156-158.</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).
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| • Recognized as a distinct entity in 1987<ref>{{Cite journal|last=Lee|first=M. S.|last2=Chang|first2=K. S.|last3=Trujillo|first3=J. M.|last4=McCredie|first4=K. B.|last5=Keating|first5=M. J.|last6=Freireich|first6=E. J.|last7=Stass|first7=S. A.|date=1987|title=T-cell receptor gamma chain gene rearrangement in acute myelogenous leukemia--evidence for lymphoid lineage prematurity|url=https://www.ncbi.nlm.nih.gov/pubmed/2848796|journal=Hematologic Pathology|volume=1|issue=2|pages=93–98|issn=0886-0238|pmid=2848796}}</ref>
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| • Rare subtype of acute leukemia without evidence of morphological or cytochemical myeloid differentiation
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| • Characterize as myeloid through use of immunohistochemistry, flow cytometry or EM cytochemistry
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| • More than 20% myeloid blasts in bone marrow or peripheral blood
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| • Less than 3% MPO or Sudan black B positivity by light-microscopic enzyme cytochemical analysis<ref name=":1">{{Cite journal|last=Kaleem|first=Z.|last2=White|first2=G.|date=2001|title=Diagnostic criteria for minimally differentiated acute myeloid leukemia (AML-M0). Evaluation and a proposal|url=https://www.ncbi.nlm.nih.gov/pubmed/11392885|journal=American Journal of Clinical Pathology|volume=115|issue=6|pages=876–884|doi=10.1309/D2BR-C0V5-LEYD-HA2D|issn=0002-9173|pmid=11392885}}</ref>
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| • No definitive evidence of lymphoid differentiation
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| ==Synonyms / Terminology==
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| AML M0 (FAB classification)
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| ==Epidemiology / Prevalence==
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| Approximately <5% AML cases. Affects all age groups though most patients are infants or older adults.
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| ==Clinical Features==
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| 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>
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| {| class="wikitable"
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| |'''Signs and Symptoms'''
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| |<span class="blue-text">EXAMPLE:</span> Asymptomatic (incidental finding on complete blood counts)
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| <span class="blue-text">EXAMPLE:</span> B-symptoms (weight loss, fever, night sweats)
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| <span class="blue-text">EXAMPLE:</span> Fatigue
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| <span class="blue-text">EXAMPLE:</span> Lymphadenopathy (uncommon)
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| |-
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| |'''Laboratory Findings'''
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| |<span class="blue-text">EXAMPLE:</span> Cytopenias
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| <span class="blue-text">EXAMPLE:</span> Lymphocytosis (low level)
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| <blockquote class='blockedit'>{{Box-round|title=v4:Clinical Features|The content below was from the old template. Please incorporate above.}}</blockquote>
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| • Patients present with evidence of bone marrow failure
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| • Anemia
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| • Thrombocytopenia
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| • Neutropenia
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| • Some patients present with leukocytosis and numerous circulating blasts
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| <blockquote class="blockedit">
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| <center><span style="color:Maroon">'''End of V4 Section'''</span>
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| ----
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| </blockquote>
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| ==Sites of Involvement==
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| Bone Marrow: hematopoietic stem cell
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| ==Morphologic Features==
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| • Blasts are usually medium–sized with dispersed nuclear chromatin
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| • Markedly hypercellular bone marrow with poorly differentiated blasts
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| • Round or slightly indented nuclei with one or two nucleoli
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| • Agranular cytoplasm with variable degree of basinophila
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| • No Auer rods
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| • Residual normal population of maturing neutrophils may be present
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| • Less frequently, blasts are small, with more dispersed chromatin, inconspicuous nucleoli and scant cytoplasm resembling that of lymphoblasts.
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| • MPO and CAE and Sudan Black B staining is negative
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| ==Immunophenotype==
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| 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>
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| {| class="wikitable sortable"
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| !Finding!!Marker
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| |Positive (universal)||<span class="blue-text">EXAMPLE:</span> CD1
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| |Positive (subset)||<span class="blue-text">EXAMPLE:</span> CD2
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| |Negative (universal)||<span class="blue-text">EXAMPLE:</span> CD3
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| |Negative (subset)||<span class="blue-text">EXAMPLE:</span> CD4
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| |}
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| <blockquote class='blockedit'>{{Box-round|title=v4:Immunophenotype|The content below was from the old template. Please incorporate above.}}</blockquote>
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| POSITIVE
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| • For any one of the myelomonocytic lineage antigens not expressed on normal B- or T-lymphoid cells: CD13, CD14, CD15, CD33, or CD64
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| • Or MPO positive detected by ultrastructural cytochemical analysis, immunohistochemical analysis or flow cytometric analysis<ref name=":1" />
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| • Most cases express early hematopoetic associated antigens: CD34, HLA-DR
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| • Approximately 60% of cases express CD33
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| • Blast cells express at mostly two myeloid-associated markers, CD13 and KIT (CD117)<ref>{{Cite journal|last=Thalhammer-Scherrer|first=Renate|last2=Mitterbauer|first2=Gerlinde|last3=Simonitsch|first3=Ingrid|last4=Jaeger|first4=Ulrich|last5=Lechner|first5=Klaus|last6=Schneider|first6=Barbara|last7=Fonatsch|first7=Christa|last8=Schwarzinger|first8=Ilse|date=2002|title=The immunophenotype of 325 adult acute leukemias: relationship to morphologic and molecular classification and proposal for a minimal screening program highly predictive for lineage discrimination|url=https://www.ncbi.nlm.nih.gov/pubmed/11888077|journal=American Journal of Clinical Pathology|volume=117|issue=3|pages=380–389|doi=10.1309/C38D-D8J3-JU3E-V6EE|issn=0002-9173|pmid=11888077}}</ref>
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| • 50% case Nuclear TdT is positive (may be of favorable prognostic significance)
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| • CD7 positive in 40% cases
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| • CD4 may have expression<ref>{{Cite journal|last=Bennett|first=J. M.|last2=Catovsky|first2=D.|last3=Daniel|first3=M. T.|last4=Flandrin|first4=G.|last5=Galton|first5=D. A.|last6=Gralnick|first6=H. R.|last7=Sultan|first7=C.|date=1981|title=The morphological classification of acute lymphoblastic leukaemia: concordance among observers and clinical correlations|url=https://www.ncbi.nlm.nih.gov/pubmed/6938236|journal=British Journal of Haematology|volume=47|issue=4|pages=553–561|doi=10.1111/j.1365-2141.1981.tb02684.x|issn=0007-1048|pmid=6938236}}</ref>
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| • Pediatric cases: CD33 bright
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| NEGATIVE:
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| • Lack antigens associated with myeloid and monocytic maturation: CD11b, CD14,3 CD153, CD36, CD41, CD61, CD64 and CD65
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| • CD38 and/or HLA-DR may be decreased
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| • No monocytic differentiation: no coexpression of CD64 and CD36
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| • Blasts are negative for the B-cell and T-cell cytoplasmic lymphoid markers CD5, cCD3, cCD79a and cCD22
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| • MPO negative by cytochemistry, but maybe positive in some blasts by flow cytometry or immunohistochemistry.
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| • Glycophorin A
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| • Pediatric cases: Negative for TdT, CD34 and CD13 (weak)
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| <blockquote class="blockedit">
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| <center><span style="color:Maroon">'''End of V4 Section'''</span>
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| </blockquote>
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| ==WHO Essential and Desirable Genetic Diagnostic Criteria== | | ==WHO Essential and Desirable Genetic Diagnostic Criteria== |
| <span style="color:#0070C0">(''Instructions: The table will have the diagnostic criteria from the WHO book <u>autocompleted</u>; remove any <u>non</u>-genetics related criteria. If applicable, add text about other classification'' ''systems that define this entity and specify how the genetics-related criteria differ.'')</span> | | <span style="color:#0070C0">(''Instructions: The table will have the diagnostic criteria from the WHO book <u>autocompleted</u>; remove any <u>non</u>-genetics related criteria. If applicable, add text about other classification'' ''systems that define this entity and specify how the genetics-related criteria differ.'')</span> |
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| |} | | |} |
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| <blockquote class='blockedit'>{{Box-round|title=v4:Chromosomal Rearrangements (Gene Fusions)|The content below was from the old template. Please incorporate above.}}</blockquote> | | <blockquote class="blockedit">{{Box-round|title=v4:Chromosomal Rearrangements (Gene Fusions)|The content below was from the old template. Please incorporate above.}}</blockquote> |
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| There is no recurrent rearrangements in this entity. | | There is no recurrent rearrangements in 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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| |} | | |} |
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| <blockquote class='blockedit'>{{Box-round|title=v4:Genomic Gain/Loss/LOH|The content below was from the old template. Please incorporate above.}}</blockquote> | | <blockquote class="blockedit">{{Box-round|title=v4:Genomic Gain/Loss/LOH|The content below was from the old template. Please incorporate above.}}</blockquote> |
| • +4 sole; intermediate/poor prognosis | | • +4 sole; intermediate/poor prognosis |
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| |} | | |} |
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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> | | <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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| • No specific chromosomal abnormality is identified | | • No specific chromosomal abnormality is identified |
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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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| <blockquote class='blockedit'>{{Box-round|title=v4:Gene Mutations (SNV/INDEL)|The content below was from the old template. Please incorporate above.}}</blockquote> | | <blockquote class="blockedit">{{Box-round|title=v4:Gene Mutations (SNV/INDEL)|The content below was from the old template. Please incorporate above.}}</blockquote> |
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| • Co-existence of gene mutations is common | | • Co-existence of gene mutations is common |
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| • Loss and haploinsufficiency of ETV6 result of heterozygous/homozygous mutations may be a leukemogenic step in AML-M0<ref name=":2" /> | | • Loss and haploinsufficiency of ETV6 result of heterozygous/homozygous mutations may be a leukemogenic step in AML-M0<ref name=":2" /> |
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| • Mutations of ''RUNX1'' occur in ~30% of cases<ref name=":7" />, and correlates with the presence of trisomy 13 and increased ''FLT3'' expression. ''De novo'' cases with RUNX1 mutations are now classified as the provisional entity of AML with mutated RUNX1 in the 2017 WHO<ref name=":0" />. | | • Mutations of ''RUNX1'' occur in ~30% of cases<ref name=":7" />, and correlates with the presence of trisomy 13 and increased ''FLT3'' expression. ''De novo'' cases with RUNX1 mutations are now classified as the provisional entity of AML with mutated RUNX1 in the 2017 WHO<ref name=":0">Arber DA, et al., (2017). Acute myeloid leukaemia,NOS in WHO 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 Editors. IARC Press: Lyon, France, p156-158.</ref>. |
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| <blockquote class="blockedit"> | | <blockquote class="blockedit"> |
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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 with minimal differentiation”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/HAEM5:Acute_myeloid_leukaemia_with_minimal_differentiation</nowiki>. | | <nowiki>*</nowiki>''Citation of this Page'': “Acute myeloid leukaemia with minimal differentiation”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/HAEM5:Acute_myeloid_leukaemia_with_minimal_differentiation</nowiki>. |
| [[Category:HAEM5]][[Category:DISEASE]][[Category:Diseases A]] | | [[Category:HAEM5]] |
| | [[Category:DISEASE]] |
| | [[Category:Diseases A]] |
