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='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]].
<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
|}
==Definition / Description of Disease==
Acute basophilic leukemia is a rare subtype of acute myeloid leukemia (AML) with primary differentiation to basophils<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 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" />.  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).  Due to the rarity of this disease, consistent genetic diagnostic criteria have not been established.  Clinical progression is often rapid and associated with poor prognosis<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>.
==Synonyms / Terminology==
Previously described as “basophilic leukemia”, the 2008 WHO classification of neoplastic diseases was the first edition to define this disorder as a separate entity of unspecified acute myeloid leukemia, now recognized as ABL<ref name=":0" /><ref name=":1" /><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>.
==Epidemiology / Prevalence==
This is a rare disease with a small number of reported cases, accounting for less than 2% of all hematopoietic malignancies<ref name=":0" />.
==Clinical Features==
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>
{| class="wikitable"
|'''Signs and Symptoms'''
|<span class="blue-text">EXAMPLE:</span> Asymptomatic (incidental finding on complete blood counts)
<span class="blue-text">EXAMPLE:</span> B-symptoms (weight loss, fever, night sweats)
<span class="blue-text">EXAMPLE:</span> Fatigue
<span class="blue-text">EXAMPLE:</span> Lymphadenopathy (uncommon)
|-
|'''Laboratory Findings'''
|<span class="blue-text">EXAMPLE:</span> Cytopenias
<span class="blue-text">EXAMPLE:</span> Lymphocytosis (low level)
|}
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Clinical features include bone marrow failure and may or may not have circulating blasts.  Cutaneous involvement, oraganomegaly, lytic lesions and symptoms related to hyperhistanemia may be present<ref name=":0" />.
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==Sites of Involvement==
Bone marrow, Skin
==Morphologic Features==
ABL features include immature basophils in the peripheral blood and blast cells with basophilic granules in the bone marrow<ref name=":0" /><ref name=":1" />.  These granules show metachromasia when stained with toluidine blue<ref name=":0" /><ref name=":1" />. Identification of the coarse basophilic granules may be the first step in diagnosis of this rare disorder<ref name=":0" /><ref name=":1" /><ref>{{Cite journal|last=Iyer|first=Renuka V.|last2=Sait|first2=Sheila N. J.|last3=Matsui|first3=Sei-Ichi|last4=Block|first4=AnneMarie W.|last5=Barcos|first5=Maurice|last6=Slack|first6=James L.|last7=Wetzler|first7=Meir|last8=Baer|first8=Maria R.|date=2004|title=Massive hyperdiploidy and tetraploidy in acute myelocytic leukemia and myelodysplastic syndrome|url=https://www.ncbi.nlm.nih.gov/pubmed/14697638|journal=Cancer Genetics and Cytogenetics|volume=148|issue=1|pages=29–34|doi=10.1016/s0165-4608(03)00214-0|issn=0165-4608|pmid=14697638}}</ref><ref>{{Cite journal|last=Béné|first=M.-C.|last2=Castoldi|first2=G.|last3=Derolf|first3=A.|last4=Garand|first4=R.|last5=Haas|first5=T.|last6=Haferlach|first6=T.|last7=Knapp|first7=W.|last8=Kuhlein|first8=E.|last9=Lemez|first9=P.|date=2006|title=Near-tetraploid acute myeloid leukemias: an EGIL retrospective study of 25 cases|url=https://www.ncbi.nlm.nih.gov/pubmed/16437146|journal=Leukemia|volume=20|issue=4|pages=725–728|doi=10.1038/sj.leu.2404110|issn=0887-6924|pmid=16437146}}</ref>. Blasts are usually negative with Sudan Black B (SBB), myeloperoxidase (MPO), and neuron–specific enolase (NSE). Diffuse staining with acid phosphatase and peroxidase activity may be present in some cases<ref name=":0" />.
==Immunophenotype==
Immunophenotyping is positive for myeloid markers such as CD9, CD13, CD33, CD123, CD203c, CD11b and HLA-DR and negative for CD117 in some cases<ref name=":0" />. The blasts may stain positive for toluidine blue, PAS, acid phosphatase, and myeloperoxidase.  Immunophenotyping and electron microscopy may also identify a basophilic lineage; this is especially crucial to differentiate basophilic cells from closely related mast cells.
{| class="wikitable sortable"
|-
!Finding!!Marker
|-
|Positive (universal)||CD13, CD33, CD34, Class II HLA-DR
|-
|Positive (subset)||Mature basophils can be CD25+ and CD117-, mast cells can be CD117+ and  CD25+, blasts can be CD9+ and TdT+.
|-
|Negative (universal)||No B or T -lymphoid markers
|-
|Negative (subset)||CD117
|}
|}


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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='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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* 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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Not applicable.
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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.


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Not applicable.
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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 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]]