HAEM5:Acute myeloid leukaemia with CEBPA mutation: Difference between revisions
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{{DISPLAYTITLE:Acute myeloid leukaemia with CEBPA mutation}} | {{DISPLAYTITLE:Acute myeloid leukaemia with CEBPA mutation}} | ||
[[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= | <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 Biallelic Mutations of CEBPA]]. | ||
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|Subtype(s) | |Subtype(s) | ||
|Acute myeloid leukaemia with CEBPA mutation | |Acute myeloid leukaemia with CEBPA mutation | ||
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<blockquote class= | <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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<blockquote class= | <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> | ||
Patients with biallelic ''CEBPA'' mutations and a normal karyotype have a more favorable prognosis than those with monoallelic or no ''CEBPA'' mutations, with higher complete remission rates and longer disease-free survival, relapse-free survival, event-free survival, and overall survival<ref name=":0" />. | Patients with biallelic ''CEBPA'' mutations and a normal karyotype have a more favorable prognosis than those with monoallelic or no ''CEBPA'' mutations, with higher complete remission rates and longer disease-free survival, relapse-free survival, event-free survival, and overall survival<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. Revised 4th Edition. IARC Press: Lyon, France, p142-144.</ref>. | ||
Patients with abnormal karyotypes (but not complex karyotypes) and biallelic ''CEBPA'' mutations also have longer disease-free survival, event-free survival, and overall survival when compared to patients with monoallelic or no ''CEBPA'' mutations<ref name=":0" />. | Patients with abnormal karyotypes (but not complex karyotypes) and biallelic ''CEBPA'' mutations also have longer disease-free survival, event-free survival, and overall survival when compared to patients with monoallelic or no ''CEBPA'' mutations<ref name=":0" />. | ||
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<blockquote class= | <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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|}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. | ||
<blockquote class= | <blockquote class="blockedit">{{Box-round|title=v4:Gene Mutations (SNV/INDEL)|The content below was from the old template. Please incorporate above.}}</blockquote> | ||
Pathogenic mutations in ''CEBPA'' are predominantly insertion/deletion frameshift mutations in the N-terminal TAD region and in-frame C-terminal bZIP mutations. No particular mutational hotspots exist but the following table records the most reported mutations in the COSMIC database (frequency based on a count out of 1523 mutations): | Pathogenic mutations in ''CEBPA'' are predominantly insertion/deletion frameshift mutations in the N-terminal TAD region and in-frame C-terminal bZIP mutations. No particular mutational hotspots exist but the following table records the most reported mutations in the COSMIC database (frequency based on a count out of 1523 mutations): | ||
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===Other Mutations=== | ===Other Mutations=== | ||
Concurrent mutations in ''NPM1'' and ''FLT3'' are seen less frequently in individuals with biallelic ''CEBPA'' mutations than in those with no or monoallelic mutations<ref name=":2" />. Conversely, mutations in ''GATA2'' appear to occur more often in ''CEBPA'' single- and double-mutants<ref>{{Cite journal|last=Green|first=Claire L.|last2=Tawana|first2=Kiran|last3=Hills|first3=Robert K.|last4=Bödör|first4=Csaba|last5=Fitzgibbon|first5=Jude|last6=Inglott|first6=Sarah|last7=Ancliff|first7=Phil|last8=Burnett|first8=Alan K.|last9=Linch|first9=David C.|date=2013|title=GATA2 mutations in sporadic and familial acute myeloid leukaemia patients with CEBPA mutations|url=https://www.ncbi.nlm.nih.gov/pubmed/23560626|journal=British Journal of Haematology|volume=161|issue=5|pages=701–705|doi=10.1111/bjh.12317|issn=1365-2141|pmid=23560626}}</ref>. The prognostic significance of these concomitant mutations is, however, unclear. Biallelic ''CEBPA'' mutations appear to confer a positive prognostic effect regardless of concomitant mutations. | Concurrent mutations in ''NPM1'' and ''FLT3'' are seen less frequently in individuals with biallelic ''CEBPA'' mutations than in those with no or monoallelic mutations<ref name=":2">{{Cite journal|last=Taskesen|first=Erdogan|last2=Bullinger|first2=Lars|last3=Corbacioglu|first3=Andrea|last4=Sanders|first4=Mathijs A.|last5=Erpelinck|first5=Claudia A. J.|last6=Wouters|first6=Bas J.|last7=van der Poel-van de Luytgaarde|first7=Sonja C.|last8=Damm|first8=Frederik|last9=Krauter|first9=Jürgen|date=2011|title=Prognostic impact, concurrent genetic mutations, and gene expression features of AML with CEBPA mutations in a cohort of 1182 cytogenetically normal AML patients: further evidence for CEBPA double mutant AML as a distinctive disease entity|url=https://www.ncbi.nlm.nih.gov/pubmed/21177436|journal=Blood|volume=117|issue=8|pages=2469–2475|doi=10.1182/blood-2010-09-307280|issn=1528-0020|pmid=21177436}}</ref>. Conversely, mutations in ''GATA2'' appear to occur more often in ''CEBPA'' single- and double-mutants<ref>{{Cite journal|last=Green|first=Claire L.|last2=Tawana|first2=Kiran|last3=Hills|first3=Robert K.|last4=Bödör|first4=Csaba|last5=Fitzgibbon|first5=Jude|last6=Inglott|first6=Sarah|last7=Ancliff|first7=Phil|last8=Burnett|first8=Alan K.|last9=Linch|first9=David C.|date=2013|title=GATA2 mutations in sporadic and familial acute myeloid leukaemia patients with CEBPA mutations|url=https://www.ncbi.nlm.nih.gov/pubmed/23560626|journal=British Journal of Haematology|volume=161|issue=5|pages=701–705|doi=10.1111/bjh.12317|issn=1365-2141|pmid=23560626}}</ref>. The prognostic significance of these concomitant mutations is, however, unclear. Biallelic ''CEBPA'' mutations appear to confer a positive prognostic effect regardless of concomitant mutations. | ||
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<blockquote class= | <blockquote class="blockedit">{{Box-round|title=v4:Genes and Main Pathways Involved|The content below was from the old template. Please incorporate above.}}</blockquote> | ||
''CEBPA'', located on chromosome 19 band q13.1, encodes a transcription factor of the basic region leucine zipper (bZIP) family. It is involved in the coordination of myeloid differentiation and cellular growth arrest. Alternative translation initiation sites result in protein isoforms of different lengths. | ''CEBPA'', located on chromosome 19 band q13.1, encodes a transcription factor of the basic region leucine zipper (bZIP) family. It is involved in the coordination of myeloid differentiation and cellular growth arrest. Alternative translation initiation sites result in protein isoforms of different lengths. | ||
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==Familial Forms== | ==Familial Forms== | ||
Familial mutations of ''CEBPA'' have been described in several families<ref name=":3" /><ref>{{Cite journal|last=Nanri|first=Tomoko|last2=Uike|first2=Naokuni|last3=Kawakita|first3=Toshiro|last4=Iwanaga|first4=Eisaku|last5=Mitsuya|first5=Hiroaki|last6=Asou|first6=Norio|date=2010|title=A family harboring a germ-line N-terminal C/EBPalpha mutation and development of acute myeloid leukemia with an additional somatic C-terminal C/EBPalpha mutation|url=https://www.ncbi.nlm.nih.gov/pubmed/19953636|journal=Genes, Chromosomes & Cancer|volume=49|issue=3|pages=237–241|doi=10.1002/gcc.20734|issn=1098-2264|pmid=19953636}}</ref><ref>{{Cite journal|last=Sellick|first=G. S.|last2=Spendlove|first2=H. E.|last3=Catovsky|first3=D.|last4=Pritchard-Jones|first4=K.|last5=Houlston|first5=R. S.|date=2005|title=Further evidence that germline CEBPA mutations cause dominant inheritance of acute myeloid leukaemia|url=https://www.ncbi.nlm.nih.gov/pubmed/15902292|journal=Leukemia|volume=19|issue=7|pages=1276–1278|doi=10.1038/sj.leu.2403788|issn=0887-6924|pmid=15902292}}</ref>. Typically, these are N-terminal mutations that are later joined by a somatic C-terminal mutation on the opposite allele leading to AML. | Familial mutations of ''CEBPA'' have been described in several families<ref name=":3">{{Cite journal|last=Smith|first=Matthew L.|last2=Cavenagh|first2=Jamie D.|last3=Lister|first3=T. Andrew|last4=Fitzgibbon|first4=Jude|date=2004|title=Mutation of CEBPA in familial acute myeloid leukemia|url=https://www.ncbi.nlm.nih.gov/pubmed/15575056|journal=The New England Journal of Medicine|volume=351|issue=23|pages=2403–2407|doi=10.1056/NEJMoa041331|issn=1533-4406|pmid=15575056}}</ref><ref>{{Cite journal|last=Nanri|first=Tomoko|last2=Uike|first2=Naokuni|last3=Kawakita|first3=Toshiro|last4=Iwanaga|first4=Eisaku|last5=Mitsuya|first5=Hiroaki|last6=Asou|first6=Norio|date=2010|title=A family harboring a germ-line N-terminal C/EBPalpha mutation and development of acute myeloid leukemia with an additional somatic C-terminal C/EBPalpha mutation|url=https://www.ncbi.nlm.nih.gov/pubmed/19953636|journal=Genes, Chromosomes & Cancer|volume=49|issue=3|pages=237–241|doi=10.1002/gcc.20734|issn=1098-2264|pmid=19953636}}</ref><ref>{{Cite journal|last=Sellick|first=G. S.|last2=Spendlove|first2=H. E.|last3=Catovsky|first3=D.|last4=Pritchard-Jones|first4=K.|last5=Houlston|first5=R. S.|date=2005|title=Further evidence that germline CEBPA mutations cause dominant inheritance of acute myeloid leukaemia|url=https://www.ncbi.nlm.nih.gov/pubmed/15902292|journal=Leukemia|volume=19|issue=7|pages=1276–1278|doi=10.1038/sj.leu.2403788|issn=0887-6924|pmid=15902292}}</ref>. Typically, these are N-terminal mutations that are later joined by a somatic C-terminal mutation on the opposite allele leading to AML. | ||
==Additional Information== | ==Additional Information== | ||
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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 CEBPA mutation”. 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_CEBPA_mutation</nowiki>. | <nowiki>*</nowiki>''Citation of this Page'': “Acute myeloid leukaemia with CEBPA mutation”. 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_CEBPA_mutation</nowiki>. | ||
[[Category:HAEM5]][[Category:DISEASE]][[Category:Diseases A]] | [[Category:HAEM5]] | ||
[[Category:DISEASE]] | |||
[[Category:Diseases A]] | |||