HAEM5:Acute basophilic leukaemia: Difference between revisions
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{{DISPLAYTITLE:Acute basophilic leukaemia}} | {{DISPLAYTITLE:Acute basophilic leukaemia}} | ||
[[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 Basophilic Leukemia]]. | ||
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|Subtype(s) | |Subtype(s) | ||
|Acute basophilic leukaemia | |Acute basophilic leukaemia | ||
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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> | ||
No consistent chromosomal abnormalities have been reported in ABL due to its rarity<ref name=":3">Yenamandra A, et al., (2014). Acute basophilic leukemia, a rare subset of de novo AML with an abnormal tetraploid karyotype. JSM Cell Dev Biol 2(1):1007. Available online at <nowiki>https://www.academia.edu/28924195/Editorial_Article_Acute_Basophilic_Leukemia_a_Rare_Subset_of_De_Novo_AML_with_an_Abnormal_Tetraploid_Karyotype</nowiki>.</ref><ref name=":4">{{Cite journal|last=Dastugue|first=N.|last2=Duchayne|first2=E.|last3=Kuhlein|first3=E.|last4=Rubie|first4=H.|last5=Demur|first5=C.|last6=Aurich|first6=J.|last7=Robert|first7=A.|last8=Sie|first8=P.|date=1997|title=Acute basophilic leukaemia and translocation t(X;6)(p11;q23)|url=https://www.ncbi.nlm.nih.gov/pubmed/9233581|journal=British Journal of Haematology|volume=98|issue=1|pages=170–176|doi=10.1046/j.1365-2141.1997.1562968.x|issn=0007-1048|pmid=9233581}}</ref><ref name=":5">{{Cite journal|last=Quelen|first=Cathy|last2=Lippert|first2=Eric|last3=Struski|first3=Stephanie|last4=Demur|first4=Cécile|last5=Soler|first5=Gwendoline|last6=Prade|first6=Nais|last7=Delabesse|first7=Eric|last8=Broccardo|first8=Cyril|last9=Dastugue|first9=Nicole|date=2011|title=Identification of a transforming MYB-GATA1 fusion gene in acute basophilic leukemia: a new entity in male infants|url=https://www.ncbi.nlm.nih.gov/pubmed/21474671|journal=Blood|volume=117|issue=21|pages=5719–5722|doi=10.1182/blood-2011-01-333013|issn=1528-0020|pmid=21474671}}</ref>. Rearrangement of MYB/GATA1 with t(X;6)(p11;q23) has been reported in four male infants<ref name=":4" /><ref name=":5" />. The fusion gene leads to downregulation of ''MYB'', upregulation of ''GATA1'', and commits myeloid cells to the granulocyte lineage and blocks their differentiation<ref name=":4" /><ref name=":5" />. | No consistent chromosomal abnormalities have been reported in ABL due to its rarity<ref name=":3">Yenamandra A, et al., (2014). Acute basophilic leukemia, a rare subset of de novo AML with an abnormal tetraploid karyotype. JSM Cell Dev Biol 2(1):1007. Available online at <nowiki>https://www.academia.edu/28924195/Editorial_Article_Acute_Basophilic_Leukemia_a_Rare_Subset_of_De_Novo_AML_with_an_Abnormal_Tetraploid_Karyotype</nowiki>.</ref><ref name=":4">{{Cite journal|last=Dastugue|first=N.|last2=Duchayne|first2=E.|last3=Kuhlein|first3=E.|last4=Rubie|first4=H.|last5=Demur|first5=C.|last6=Aurich|first6=J.|last7=Robert|first7=A.|last8=Sie|first8=P.|date=1997|title=Acute basophilic leukaemia and translocation t(X;6)(p11;q23)|url=https://www.ncbi.nlm.nih.gov/pubmed/9233581|journal=British Journal of Haematology|volume=98|issue=1|pages=170–176|doi=10.1046/j.1365-2141.1997.1562968.x|issn=0007-1048|pmid=9233581}}</ref><ref name=":5">{{Cite journal|last=Quelen|first=Cathy|last2=Lippert|first2=Eric|last3=Struski|first3=Stephanie|last4=Demur|first4=Cécile|last5=Soler|first5=Gwendoline|last6=Prade|first6=Nais|last7=Delabesse|first7=Eric|last8=Broccardo|first8=Cyril|last9=Dastugue|first9=Nicole|date=2011|title=Identification of a transforming MYB-GATA1 fusion gene in acute basophilic leukemia: a new entity in male infants|url=https://www.ncbi.nlm.nih.gov/pubmed/21474671|journal=Blood|volume=117|issue=21|pages=5719–5722|doi=10.1182/blood-2011-01-333013|issn=1528-0020|pmid=21474671}}</ref>. Rearrangement of MYB/GATA1 with t(X;6)(p11;q23) has been reported in four male infants<ref name=":4" /><ref name=":5" />. The fusion gene leads to downregulation of ''MYB'', upregulation of ''GATA1'', and commits myeloid cells to the granulocyte lineage and blocks their differentiation<ref name=":4" /><ref name=":5" />. | ||
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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> | ||
Diagnosis of this disease may allow for appropriate prophylactic measures, including H1 and H2 blockers and proton pump inhibitors and steroids, to be initiated in an attempt to minimize its protean complications<ref name=":0" />. | Diagnosis of this disease may allow for appropriate prophylactic measures, including H1 and H2 blockers and proton pump inhibitors and steroids, to be initiated in an attempt to minimize its protean complications<ref name=":0">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, p164-165.</ref>. | ||
This disease is prognostically unfavorable and may have unique therapeutic complications, including anaphylaxis and life threatening cardiac involvement. A low remission rate and short survival are characteristic of ABL<ref name=":0" /><ref name=":3" /><ref name=":4" />. | This disease is prognostically unfavorable and may have unique therapeutic complications, including anaphylaxis and life threatening cardiac involvement. A low remission rate and short survival are characteristic of ABL<ref name=":0" /><ref name=":3" /><ref name=":4" />. | ||
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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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<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> | ||
A few male patients have been reported with massive hyperdiploid or tetraploid karyotypes<ref name=":1" /><ref name=":2" /><ref name=":3" /><ref>{{Cite journal|last=Kim|first=Bo Hyun|last2=Kim|first2=Hye Ryoun|last3=Lee|first3=Mi-Kyung|last4=Chi|first4=Hyunyoung|date=2013|title=Two cases of near-tetraploidy in acute leukemias of ambiguous lineage|url=https://www.ncbi.nlm.nih.gov/pubmed/24003431|journal=Annals of Laboratory Medicine|volume=33|issue=5|pages=371–374|doi=10.3343/alm.2013.33.5.371|issn=2234-3814|pmc=3756245|pmid=24003431}}</ref>. Monosomy 7 was reported in a rare case<ref>{{Cite journal|last=Shin|first=So Youn|last2=Koo|first2=Sun Hoe|last3=Kwon|first3=Kye Cheol|last4=Park|first4=Jong Woo|last5=Ko|first5=Chi Seon|last6=Jo|first6=Deog Yeon|date=2007|title=Monosomy 7 as the sole abnormality of an acute basophilic leukemia|url=https://www.ncbi.nlm.nih.gov/pubmed/17213028|journal=Cancer Genetics and Cytogenetics|volume=172|issue=2|pages=168–171|doi=10.1016/j.cancergencyto.2006.09.016|issn=0165-4608|pmid=17213028}}</ref>. | A few male patients have been reported with massive hyperdiploid or tetraploid karyotypes<ref name=":1">{{Cite journal|last=Kritharis|first=Athena|last2=Brody|first2=Judith|last3=Koduru|first3=Prasad|last4=Teichberg|first4=Saul|last5=Allen|first5=Steven L.|date=2011|title=Acute basophilic leukemia associated with loss of gene ETV6 and protean complications|url=https://www.ncbi.nlm.nih.gov/pubmed/21576634|journal=Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology|volume=29|issue=21|pages=e623–626|doi=10.1200/JCO.2010.34.5710|issn=1527-7755|pmid=21576634}}</ref><ref name=":2">{{Cite journal|last=Duchayne|first=E.|last2=Demur|first2=C.|last3=Rubie|first3=H.|last4=Robert|first4=A.|last5=Dastugue|first5=N.|date=1999|title=Diagnosis of acute basophilic leukemia|url=https://www.ncbi.nlm.nih.gov/pubmed/10037024|journal=Leukemia & Lymphoma|volume=32|issue=3-4|pages=269–278|doi=10.3109/10428199909167387|issn=1042-8194|pmid=10037024}}</ref><ref name=":3" /><ref>{{Cite journal|last=Kim|first=Bo Hyun|last2=Kim|first2=Hye Ryoun|last3=Lee|first3=Mi-Kyung|last4=Chi|first4=Hyunyoung|date=2013|title=Two cases of near-tetraploidy in acute leukemias of ambiguous lineage|url=https://www.ncbi.nlm.nih.gov/pubmed/24003431|journal=Annals of Laboratory Medicine|volume=33|issue=5|pages=371–374|doi=10.3343/alm.2013.33.5.371|issn=2234-3814|pmc=3756245|pmid=24003431}}</ref>. Monosomy 7 was reported in a rare case<ref>{{Cite journal|last=Shin|first=So Youn|last2=Koo|first2=Sun Hoe|last3=Kwon|first3=Kye Cheol|last4=Park|first4=Jong Woo|last5=Ko|first5=Chi Seon|last6=Jo|first6=Deog Yeon|date=2007|title=Monosomy 7 as the sole abnormality of an acute basophilic leukemia|url=https://www.ncbi.nlm.nih.gov/pubmed/17213028|journal=Cancer Genetics and Cytogenetics|volume=172|issue=2|pages=168–171|doi=10.1016/j.cancergencyto.2006.09.016|issn=0165-4608|pmid=17213028}}</ref>. | ||
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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> | ||
Not applicable. | Not applicable. | ||
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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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==Notes== | ==Notes== | ||
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<nowiki>*</nowiki>''Citation of this Page'': “Acute basophilic leukaemia”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/HAEM5:Acute_basophilic_leukaemia</nowiki>. | <nowiki>*</nowiki>''Citation of this Page'': “Acute basophilic leukaemia”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/HAEM5:Acute_basophilic_leukaemia</nowiki>. | ||
[[Category:HAEM5]][[Category:DISEASE]][[Category:Diseases A]] | [[Category:HAEM5]] | ||
[[Category:DISEASE]] | |||
[[Category:Diseases A]] | |||