HAEM5:Acute erythroid leukaemia: Difference between revisions
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<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:Pure Erythroid Leukemia]]. | ||
Note: need to check if content remains the same | Note: need to check if content remains the same | ||
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Ashwini Yenamandra PhD FACMG | Ashwini Yenamandra PhD FACMG | ||
==WHO Classification of Disease== | ==WHO Classification of Disease== | ||
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|} | |} | ||
== | ==Related Terminology== | ||
{| class="wikitable" | {| class="wikitable" | ||
|+ | |+ | ||
|Acceptable | |Acceptable | ||
| | |Pure erythroid leukaemia | ||
|- | |- | ||
|Not Recommended | |Not Recommended | ||
| | |Di Guglielmo disease; acute myeloid leukaemia, M6 | ||
|} | |} | ||
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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> | ||
The genetic abnormalities that have been identified in PEL are similar to that of AML and MDS and consists of complex chromosomal abnormalities including -5/del(5q), -7/del(7q), +8 and/or RUNX1 and TP53 mutations<ref name=":0" />. Rearrangement of NFIA-CBFA2T3 with t(1;16)(p31;q24) and MYND8-RELA with t(11;20)(p11;q11) have been reported in rare cases<ref name=":9" />. A complex karyotype with 46,XY,der(5)del(5)(p15.1p15.1)t(5;12;7)(p15.1;p13;q32),der(7)t(5;12;7),der(12)del(12)p13p13)t(5;12;7),del(13)(q12q14) was reported in a two year old boy with PEL<ref name=":10" />. | The genetic abnormalities that have been identified in PEL are similar to that of AML and MDS and consists of complex chromosomal abnormalities including -5/del(5q), -7/del(7q), +8 and/or RUNX1 and TP53 mutations<ref name=":0">Arber DA, et al., (2008). World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, 4th edition. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Vardiman JW, Editors. IARC Press: Lyon, France, p135-136.</ref>. Rearrangement of NFIA-CBFA2T3 with t(1;16)(p31;q24) and MYND8-RELA with t(11;20)(p11;q11) have been reported in rare cases<ref name=":9">{{Cite journal|last=Wang|first=Wei|last2=Wang|first2=Sa A.|last3=Medeiros|first3=L. Jeffrey|last4=Khoury|first4=Joseph D.|date=2017|title=Pure erythroid leukemia|url=https://www.ncbi.nlm.nih.gov/pubmed/28006859|journal=American Journal of Hematology|volume=92|issue=3|pages=292–296|doi=10.1002/ajh.24626|issn=1096-8652|pmid=28006859}}</ref>. A complex karyotype with 46,XY,der(5)del(5)(p15.1p15.1)t(5;12;7)(p15.1;p13;q32),der(7)t(5;12;7),der(12)del(12)p13p13)t(5;12;7),del(13)(q12q14) was reported in a two year old boy with PEL<ref name=":10">{{Cite journal|last=A|first=Yenamandra|date=2016|title=Acute Erythroblastic Leukemia (AEL): A Rare Subset of De Novo AML with A Complex Rearrangement Involving ETV6 Locus and Loss of RB1 Locus|url=https://medcraveonline.com/ICPJL/acute-erythroblastic-leukemia-ael-a-rare-subset-of-de-novo-aml-with-a-complex-rearrangement-involving-etv6-locus-and-loss-of-rb1-locus.html|journal=International Clinical Pathology Journal|volume=2|issue=2|doi=10.15406/icpjl.2016.02.00032}}</ref>. | ||
[[File:pic-1.png|frame|center| Karyotype of two year old boy with PEL<ref name=":10" />.]] | [[File:pic-1.png|frame|center| Karyotype of two year old boy with PEL<ref name=":10" />.]] | ||
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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> | ||
PEL has rapid and aggressive clinical course. Patients with PEL are treated similar to other types of AML. Stem cell transplantation (SCT) may have an improvement in the outcome of the disease. No therapeutic agents for specific target pathways are currently available<ref name=":2" />. | PEL has rapid and aggressive clinical course. Patients with PEL are treated similar to other types of AML. Stem cell transplantation (SCT) may have an improvement in the outcome of the disease. No therapeutic agents for specific target pathways are currently available<ref name=":2">{{Cite journal|last=Zuo|first=Zhuang|last2=Polski|first2=Jacek M.|last3=Kasyan|first3=Armen|last4=Medeiros|first4=L. Jeffrey|date=2010|title=Acute erythroid leukemia|url=https://www.ncbi.nlm.nih.gov/pubmed/20807044|journal=Archives of Pathology & Laboratory Medicine|volume=134|issue=9|pages=1261–1270|doi=10.1043/2009-0350-RA.1|issn=1543-2165|pmid=20807044}}</ref>. | ||
<blockquote class="blockedit"> | <blockquote class="blockedit"> | ||
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{| class="wikitable sortable" | {| class="wikitable sortable" | ||
|- | |- | ||
!Chr #!! | !Chr #!!Gain, Loss, Amp, LOH!!Minimal Region Cytoband and/or Genomic Coordinates [Genome Build; Size]!!Relevant Gene(s) | ||
! | !Diagnostic, Prognostic, and Therapeutic Significance - D, P, T | ||
! | !Established Clinical Significance Per Guidelines - Yes or No (Source) | ||
! | !Clinical Relevance Details/Other Notes | ||
|- | |- | ||
|<span class="blue-text">EXAMPLE:</span> | |<span class="blue-text">EXAMPLE:</span> | ||
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|} | |} | ||
<blockquote class= | <blockquote class="blockedit">{{Box-round|title=v4:Genomic Gain/Loss/LOH|The content below was from the old template. Please incorporate above.}}</blockquote> | ||
Not Applicable | Not Applicable | ||
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!Chromosomal Pattern | !Chromosomal Pattern | ||
!Molecular Pathogenesis | !Molecular Pathogenesis | ||
! | !Prevalence - | ||
Common >20%, Recurrent 5-20% or Rare <5% (Disease) | |||
! | !Diagnostic, Prognostic, and Therapeutic Significance - D, P, T | ||
! | !Established Clinical Significance Per Guidelines - Yes or No (Source) | ||
! | !Clinical Relevance Details/Other Notes | ||
|- | |- | ||
|<span class="blue-text">EXAMPLE:</span> | |<span class="blue-text">EXAMPLE:</span> | ||
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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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{| class="wikitable sortable" | {| class="wikitable sortable" | ||
|- | |- | ||
!Gene!! | !Gene!!Genetic Alteration!!Tumor Suppressor Gene, Oncogene, Other!!Prevalence - | ||
Common >20%, Recurrent 5-20% or Rare <5% (Disease) | |||
! | !Diagnostic, Prognostic, and Therapeutic Significance - D, P, T | ||
! | !Established Clinical Significance Per Guidelines - Yes or No (Source) | ||
! | !Clinical Relevance Details/Other Notes | ||
|- | |- | ||
|<span class="blue-text">EXAMPLE:</span>''EGFR'' | |<span class="blue-text">EXAMPLE:</span>''EGFR'' | ||
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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> | ||
JAK2, FLT3, RAS, NPM1, and CEBPA mutations have been reported to be rare in PEL<ref name=":9" /><ref name=":10" /><ref name=":11" />. Intraclonal heterogeneity and founder mutations of TP53 were reported in 92% (11 out of 12 cases) while co-occurrence of TP53 mutation and deletion due to chromosome 17p abnormalities were detected in 73% of PEL cases<ref>{{Cite journal|last=Montalban-Bravo|first=Guillermo|last2=Benton|first2=Christopher B.|last3=Wang|first3=Sa A.|last4=Ravandi|first4=Farhad|last5=Kadia|first5=Tapan|last6=Cortes|first6=Jorge|last7=Daver|first7=Naval|last8=Takahashi|first8=Koichi|last9=DiNardo|first9=Courtney|date=2017|title=More than 1 TP53 abnormality is a dominant characteristic of pure erythroid leukemia|url=https://www.ncbi.nlm.nih.gov/pubmed/28246192|journal=Blood|volume=129|issue=18|pages=2584–2587|doi=10.1182/blood-2016-11-749903|issn=1528-0020|pmc=5418636|pmid=28246192}}</ref>. | JAK2, FLT3, RAS, NPM1, and CEBPA mutations have been reported to be rare in PEL<ref name=":9" /><ref name=":10" /><ref name=":11">{{Cite journal|last=Fs|first=Khan|date=2017|title=Pure Erythroid Leukemia: The Sole Acute Erythroid Leukemia|url=https://www.heighpubs.org/hbmr/ijbmr-aid1001.php|journal=International Journal of Bone Marrow Research|volume=1|issue=1|pages=001–005|doi=10.29328/journal.ijbmr.1001001}}</ref>. Intraclonal heterogeneity and founder mutations of TP53 were reported in 92% (11 out of 12 cases) while co-occurrence of TP53 mutation and deletion due to chromosome 17p abnormalities were detected in 73% of PEL cases<ref>{{Cite journal|last=Montalban-Bravo|first=Guillermo|last2=Benton|first2=Christopher B.|last3=Wang|first3=Sa A.|last4=Ravandi|first4=Farhad|last5=Kadia|first5=Tapan|last6=Cortes|first6=Jorge|last7=Daver|first7=Naval|last8=Takahashi|first8=Koichi|last9=DiNardo|first9=Courtney|date=2017|title=More than 1 TP53 abnormality is a dominant characteristic of pure erythroid leukemia|url=https://www.ncbi.nlm.nih.gov/pubmed/28246192|journal=Blood|volume=129|issue=18|pages=2584–2587|doi=10.1182/blood-2016-11-749903|issn=1528-0020|pmc=5418636|pmid=28246192}}</ref>. | ||
{| class="wikitable sortable" | {| class="wikitable sortable" | ||
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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> | ||
The molecular mechanism is not completely understood. | The molecular mechanism is not completely understood. | ||
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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 erythroid leukaemia”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/HAEM5:Acute_erythroid_leukaemia</nowiki>. | <nowiki>*</nowiki>''Citation of this Page'': “Acute erythroid leukaemia”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/HAEM5:Acute_erythroid_leukaemia</nowiki>. | ||
[[Category:HAEM5]][[Category:DISEASE]][[Category:Diseases A]] | [[Category:HAEM5]] | ||
[[Category:DISEASE]] | |||
[[Category:Diseases A]] | |||