Acute basophilic leukaemia

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Haematolymphoid Tumours (5th ed.)

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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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Primary Author(s)*

Ashwini Yenamandra PhD FACMG

Cancer Category / Type

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[1]. 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[1]. 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[2].

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[1][2][3].

Epidemiology / Prevalence

This is a rare disease with a small number of reported cases, accounting for less than 2% of all hematopoietic malignancies[1].

Clinical Features

Put your text here and fill in the table (Instruction: Can include references in the table)

Signs and Symptoms EXAMPLE Asymptomatic (incidental finding on complete blood counts)

EXAMPLE B-symptoms (weight loss, fever, night sweats)


EXAMPLE Lymphadenopathy (uncommon)

Laboratory Findings EXAMPLE Cytopenias

EXAMPLE Lymphocytosis (low level)

editv4:Clinical Features
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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[1].

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[1][2]. These granules show metachromasia when stained with toluidine blue[1][2]. Identification of the coarse basophilic granules may be the first step in diagnosis of this rare disorder[1][2][4][5]. 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[1].


Immunophenotyping is positive for myeloid markers such as CD9, CD13, CD33, CD123, CD203c, CD11b and HLA-DR and negative for CD117 in some cases[1]. 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.

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)

Put your text here and fill in the table

Chromosomal Rearrangement Genes in Fusion (5’ or 3’ Segments) Pathogenic Derivative Prevalence Diagnostic Significance (Yes, No or Unknown) Prognostic Significance (Yes, No or Unknown) Therapeutic Significance (Yes, No or Unknown) Notes
EXAMPLE t(9;22)(q34;q11.2) EXAMPLE 3'ABL1 / 5'BCR EXAMPLE der(22) EXAMPLE 20% (COSMIC)

EXAMPLE 30% (add reference)


The t(9;22) is diagnostic of CML in the appropriate morphology and clinical context (add reference). This fusion is responsive to targeted therapy such as Imatinib (Gleevec) (add reference).

editv4:Chromosomal Rearrangements (Gene Fusions)
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No consistent chromosomal abnormalities have been reported in ABL due to its rarity[6][7][8]. Rearrangement of MYB/GATA1 with t(X;6)(p11;q23) has been reported in four male infants[7][8]. The fusion gene leads to downregulation of MYB, upregulation of GATA1, and commits myeloid cells to the granulocyte lineage and blocks their differentiation[7][8].

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)

editv4:Clinical Significance (Diagnosis, Prognosis and Therapeutic Implications).
Please incorporate this section into the relevant tables found in:
  • Chromosomal Rearrangements (Gene Fusions)
  • Individual Region Genomic Gain/Loss/LOH
  • Characteristic Chromosomal Patterns
  • Gene Mutations (SNV/INDEL)

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[1].

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[1][6][7].

Individual Region Genomic Gain / Loss / LOH

Put your text here and fill in the table (Instructions: Includes aberrations not involving gene fusions. Can include references in the table. Can refer to CGC workgroup tables as linked on the homepage if applicable.)

Chr # Gain / Loss / Amp / LOH Minimal Region Genomic Coordinates [Genome Build] Minimal Region Cytoband Diagnostic Significance (Yes, No or Unknown) Prognostic Significance (Yes, No or Unknown) Therapeutic Significance (Yes, No or Unknown) Notes



chr7:1- 159,335,973 [hg38]




Presence of monosomy 7 (or 7q deletion) is sufficient for a diagnosis of AML with MDS-related changes when there is ≥20% blasts and no prior therapy (add reference).  Monosomy 7/7q deletion is associated with a poor prognosis in AML (add reference).




chr8:1-145,138,636 [hg38]




Common recurrent secondary finding for t(8;21) (add reference).

editv4:Genomic Gain/Loss/LOH
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Not applicable.

Characteristic Chromosomal Patterns

Put your text here (EXAMPLE PATTERNS: hyperdiploid; gain of odd number chromosomes including typically chromosome 1, 3, 5, 7, 11, and 17; co-deletion of 1p and 19q; complex karyotypes without characteristic genetic findings; chromothripsis)

Chromosomal Pattern Diagnostic Significance (Yes, No or Unknown) Prognostic Significance (Yes, No or Unknown) Therapeutic Significance (Yes, No or Unknown) Notes

Co-deletion of 1p and 18q


See chromosomal rearrangements table as this pattern is due to an unbalanced derivative translocation associated with oligodendroglioma (add reference).

editv4:Characteristic Chromosomal Aberrations / Patterns
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A few male patients have been reported with massive hyperdiploid or tetraploid karyotypes[2][3][6][9]. Monosomy 7 was reported in a rare case[10].

Gene Mutations (SNV / INDEL)

Put your text here and fill in the table (Instructions: This table is not meant to be an exhaustive list; please include only genes/alterations that are recurrent and common as well either disease defining and/or clinically significant. Can include references in the table. For clinical significance, denote associations with FDA-approved therapy (not an extensive list of applicable drugs) and NCCN or other national guidelines if applicable; Can also refer to CGC workgroup tables as linked on the homepage if applicable as well as any high impact papers or reviews of gene mutations in this entity.)

Gene; Genetic Alteration Presumed Mechanism (Tumor Suppressor Gene [TSG] / Oncogene / Other) Prevalence (COSMIC / TCGA / Other) Concomitant Mutations Mutually Exclusive Mutations Diagnostic Significance (Yes, No or Unknown) Prognostic Significance (Yes, No or Unknown) Therapeutic Significance (Yes, No or Unknown) Notes
EXAMPLE: TP53; Variable LOF mutations


EGFR; Exon 20 mutations

EXAMPLE: BRAF; Activating mutations


EXAMPLE: 30% (add Reference)

EXAMPLE: IDH1 R123H EXAMPLE: EGFR amplification EXAMPLE:  Excludes hairy cell leukemia (HCL) (add reference).

Note: A more extensive list of mutations can be found in cBioportal (, COSMIC (, ICGC ( and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content.

editv4:Gene Mutations (SNV/INDEL)
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Not applicable.

Other Mutations

Not applicable.

Epigenomic Alterations

Not applicable.

Genes and Main Pathways Involved

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Gene; Genetic Alteration Pathway Pathophysiologic Outcome
EXAMPLE: BRAF and MAP2K1; Activating mutations EXAMPLE: MAPK signaling EXAMPLE: Increased cell growth and proliferation
EXAMPLE: CDKN2A; Inactivating mutations EXAMPLE: Cell cycle regulation EXAMPLE: Unregulated cell division
EXAMPLE:  KMT2C and ARID1A; Inactivating mutations EXAMPLE:  Histone modification, chromatin remodeling EXAMPLE:  Abnormal gene expression program
editv4:Genes and Main Pathways Involved
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The molecular mechanism is not completely understood.

Genetic Diagnostic Testing Methods

Morphology and IHC.

Familial Forms

Not applicable.

Additional 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[1]. 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[1]. Immunological markers distinguish between granulated ALL and ABL, and light microscopic cytochemistry for myeloperoxidase and electron microscopy will distinguish ABL from other leukemias[1].


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(use the "Cite" icon at the top of the page) (Instructions: Add each reference into the text above by clicking on where you want to insert the reference, selecting the “Cite” icon at the top of the page, and using the “Automatic” tab option to search such as by PMID to select the reference to insert. The reference list in this section will be automatically generated and sorted. 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.)

  1. 1.00 1.01 1.02 1.03 1.04 1.05 1.06 1.07 1.08 1.09 1.10 1.11 1.12 1.13 1.14 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.
  2. 2.0 2.1 2.2 2.3 2.4 2.5 Kritharis, Athena; et al. (2011). "Acute basophilic leukemia associated with loss of gene ETV6 and protean complications". Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology. 29 (21): e623–626. doi:10.1200/JCO.2010.34.5710. ISSN 1527-7755. PMID 21576634.
  3. 3.0 3.1 Duchayne, E.; et al. (1999). "Diagnosis of acute basophilic leukemia". Leukemia & Lymphoma. 32 (3–4): 269–278. doi:10.3109/10428199909167387. ISSN 1042-8194. PMID 10037024.
  4. Iyer, Renuka V.; et al. (2004). "Massive hyperdiploidy and tetraploidy in acute myelocytic leukemia and myelodysplastic syndrome". Cancer Genetics and Cytogenetics. 148 (1): 29–34. doi:10.1016/s0165-4608(03)00214-0. ISSN 0165-4608. PMID 14697638.
  5. Béné, M.-C.; et al. (2006). "Near-tetraploid acute myeloid leukemias: an EGIL retrospective study of 25 cases". Leukemia. 20 (4): 725–728. doi:10.1038/sj.leu.2404110. ISSN 0887-6924. PMID 16437146.
  6. 6.0 6.1 6.2 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
  7. 7.0 7.1 7.2 7.3 Dastugue, N.; et al. (1997). "Acute basophilic leukaemia and translocation t(X;6)(p11;q23)". British Journal of Haematology. 98 (1): 170–176. doi:10.1046/j.1365-2141.1997.1562968.x. ISSN 0007-1048. PMID 9233581.
  8. 8.0 8.1 8.2 Quelen, Cathy; et al. (2011). "Identification of a transforming MYB-GATA1 fusion gene in acute basophilic leukemia: a new entity in male infants". Blood. 117 (21): 5719–5722. doi:10.1182/blood-2011-01-333013. ISSN 1528-0020. PMID 21474671.
  9. Kim, Bo Hyun; et al. (2013). "Two cases of near-tetraploidy in acute leukemias of ambiguous lineage". Annals of Laboratory Medicine. 33 (5): 371–374. doi:10.3343/alm.2013.33.5.371. ISSN 2234-3814. PMC 3756245. PMID 24003431.
  10. Shin, So Youn; et al. (2007). "Monosomy 7 as the sole abnormality of an acute basophilic leukemia". Cancer Genetics and Cytogenetics. 172 (2): 168–171. doi:10.1016/j.cancergencyto.2006.09.016. ISSN 0165-4608. PMID 17213028.


*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. *Citation of this Page: “Acute basophilic leukaemia”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated 12/13/2023,