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Created page with "==Primary Author(s)*== Ashwini Yenamandra PhD FACMG __TOC__ ==Cancer Category/Type== Acute Myeloid Leukemia ==Cancer Sub-Classification / Subtype== Acute Basoph..."

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==Primary Author(s)*==

Ashwini Yenamandra PhD FACMG

__TOC__

==Cancer Category/Type==

[[AML|Acute Myeloid Leukemia]]

==Cancer Sub-Classification / Subtype==

Acute Basophilic Leukemia (ABL)

==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 [[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==

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" />.

==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
|}

==Chromosomal Rearrangements (Gene Fusions)==

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" />.

{| class="wikitable sortable"
|-
!Chromosomal Rearrangement!!Genes in Fusion (5’ or 3’ Segments)!!Pathogenic Derivative!!Prevalence
|-
|t(X;6)(p11;q23)||5'MYB / 3'GATA1||der(X)||Rare (4 cases)
|-
|}

==Characteristic Chromosomal Aberrations / Patterns==

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>.

==Genomic Gain/Loss/LOH==

Not applicable.

==Gene Mutations (SNV/INDEL)==

Not applicable.

===Other Mutations===

Not applicable.

==Epigenomics (Methylation)==

Not applicable.

==Genes and Main Pathways Involved==

The molecular mechanism is not completely understood.

==Diagnostic Testing Methods==

Morphology and IHC.

==Clinical Significance (Diagnosis, Prognosis and Therapeutic Implications)==

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" />.

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" />.

==Familial Forms==

Not applicable.

==Other Information==

Differential Diagnosis - The differential diagnosis includes blast phase of MPN, other subtypes of AML with basophilia such as AML with t(6;9) (p23;q34), mast cell leukemia and a subtype of ALL with course granules<ref name=":0" />. The clinical features and cytogenetic pattern will distinguish cases presenting ''de novo'' from cases that result from transformation of chronic myelogenous leukemia and other subtypes of AML with basophilia<ref name=":0" />. Immunological markers distinguish between granulated ALL and ABL, and light microscopic cytochemistry for myeloperoxidase and electron microscopy will distinguish ABL from other leukemias<ref name=":0" />.

==Links==

Put your links here

==References==
<references />

==Notes==
<nowiki>*</nowiki>Primary authors will typically be those that initially create and complete the content of a page. If a subsequent user modifies the content and feels the effort put forth is of high enough significance to warrant listing in the authorship section, please contact the CCGA coordinators (contact information provided on the homepage). Additional global feedback or concerns are also welcome.

[[Category:Translocation]]
[[Category:Translocation Chromosome X]]
[[Category:Translocation Chromosome 6]]
[[Category:Structural Chromosome Abnormalities]]
[[Category:Structural Chromosome Abnormalities in AML]]
[[Category:Structural Abnormalities Chromosome X]]
[[Category:Structural Abnormalities Chromosome 6]]
[[Category:Fusion Genes in AML]]
[[Category:Fusion Genes M]]
[[Category:Fusion Genes G]]
[[Category:Recently Added Pages]]

HAEM4Backup:Acute Basophilic Leukemia - Revision history

Bailey.Glen: Created page with "==Primary Author(s)*== Ashwini Yenamandra PhD FACMG __TOC__ ==Cancer Category/Type== Acute Myeloid Leukemia ==Cancer Sub-Classification / Subtype== Acute Basoph..."

Bailey.Glen: Created page with "==Primary Author(s)*== Ashwini Yenamandra PhD FACMG TOC ==Cancer Category/Type== Acute Myeloid Leukemia ==Cancer Sub-Classification / Subtype== Acute Basoph..."