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Acute basophilic leukemia

t(X;6)(p11;q23) MYB/GATA1

Written2012-06Cathy Quelen
Institut National de la Sante et de la Recherche Medicale, U1037, Centre de Recherche sur le Cancer de Toulouse, Toulouse, France
This article is an update of :
1998-02Nicole Dastugue
Genetique des Hemopathies, Laboratoire d'Hematologie, Hopital Purpan, 31059 Toulouse Cedex, France

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ICD-Morpho 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS
ICD-Morpho 9870/3 Acute basophilic leukaemia
Atlas_Id 1124

Clinics and Pathology

Disease Rare type of acute myeloid leukemia (AML)
Phenotype / cell stem origin Basophilic precursor.
Epidemiology Very rare but might be prominent in infants. Four cases of acute basophilic leukemia with t(X;6)(p11;q23) translocation occurring in male infants (< 1 year) have been described.
Clinics Hyperhistaminemia syndrome has been reported in some of the cases.
Cytology Major component of undifferentiated blasts and minor component of basophilic blasts containing large granules reacting positively to toluidine blue staining.
Cytology of blast cells. A: Presence of basophilic granules in the cytoplasm of leukemic cells after May Grünwald Giemsa staining. B: Positive reaction for toluidine blue cytochemistry.
Treatment AML protocols. All patients received standard therapy for childhood AML; Two out of 4 cases reported underwent intrafamilial hematopoietic stem cell transplantation.
Evolution The 4 patients are still in complete remission, with the following follow-ups: 24 years (P1), 18 years (P2 allografted), 4 years (P3) and 14 years (P4 allografted).
Prognosis Good response to standard therapy for childhood AML.


One patient had a K-RAS exon 2 mutation (G12S).


Cytogenetics Morphological t(X;6)(p11;q23)
  Karyotype of patients at the diagnosis (Patient 1: G-banding; Patient 2 and 3: R-banding). For Patient 3, the chromosome 12 is involved in the rearrangement.
Cytogenetics Molecular Molecular cytogenetics (FISH) revealed unbalanced and more complex rearrangements than those observed on karyotype:
PatientKaryotype at diagnosis /
Karyotype revised after FISH analysis (BACs, Fosmids and mBAND)
der(X)(6qter→6q24::6q23::Xp11→Xq13::6q22q23::Xp11→Xp22::Xq24::Xp22→Xpter), der(6)(6pter→6q22::Xq28→ Xq25::Xq23→ Xq13::Xqter)
no material available
P346,Y,der(X)t(X;12)(p21;q23)t(X;6)(q28;q23), der(6)t(X;6)(q28;q23), del(12)(q23)[18]/46,XY[6]
der(X)(12qter→12q23::6q22→6q23::Xp11→Xq28::Xp11→Xpter), del(6)(q21q23),del(12)(q23)
der(X)(6qter→6q24::6q23::Xp11→Xq23::Xq25→Xqter), der(6)(6pter→6q23::Xp11→Xp21::Xq24::Xp21→Xpter)
  RP11-104D9 (Red) and RP11-905P20 (Green) span the 5' part of MYB and the 3' part of MYB respectively. RP11-104D9 is delocalized onto der(X).

Genes involved and Proteins

Gene NameMYB (v-myb myeloblastosis viral oncogene homolog (avian))
Location 6q23.3
Protein MYB is a transcription factor composed of three domains: an N-terminal DNA binding domain composed of three imperfect repetitions forming a helix-turn-helix structure, a central transactivation domain and a C-terminal negative regulatory domain. MYB is a master regulator of haematopoiesis involving in proliferation, survival and differentiation of hematopoietic cells.
Gene NameGATA1 (GATA binding protein 1 (globin transcription factor1))
Location Xp11.23
Protein GATA1 is a transcription factor composed of an N-terminal activation domain and two zinc-finger domains. GATA1 play an essential role in erythroid differentiation.

Result of the chromosomal anomaly

Hybrid gene
Note The t(X;6)(p11;q23) resulted in MYB-GATA1 fusion gene.
Description 5'MYB-3'GATA1. Breakpoint occurred in the intron 8-9 of MYB and in the intron 4-5 of GATA1.
Transcript The fusion transcript fused the 5' part of MYB up to exon 8 to the 3' part of GATA1 from exon 5 to the end. This translocation is associated with loss of expression of wild type GATA1 in leukemic cell due to the involvement of the chromosome X carrying GATA1.
Fusion Protein
  Schematic representation of MYB, GATA1 and MYB-GATA1 proteins. MYB is composed of R1, R2 and R3 which are three imperfect repeats that encompass the DNA-binding domain (DBD) of MYB. TAD is the transactivation domain of MYB and NRD is the negative regulatory domain. GATA1 is composed of an activation domain (AD) and two zinc finger domains. MYB-GATA1 keeps both the DBD and the minimal TAD of MYB and the c-terminal zinc finger domain of GATA1. The breakpoint at the amino acid level is indicated by the blue arrow.
Description The predicted fusion protein comprises the DNA binding domain and the minimal transactivation domain of MYB fused to the DNA binding domain of GATA1.
Expression Localisation MYB-GATA1 is expressed in the nucleus.
Oncogenesis Expression of MYB-GATA1 in mouse hematopoietic progenitors committed them to the granulocyte lineage, blocked them at an early stage of differentiation and transformed these cells.

To be noted

Additional cases are needed to delineate the epidemiology of this rare entity:
you are welcome to submit a paper to our new Case Report section.


Acute basophilic leukaemia and translocation t(X;6)(p11;q23).
Dastugue N, Duchayne E, Kuhlein E, Rubie H, Demur C, Aurich J, Robert A, Sie P.
Br J Haematol. 1997 Jul;98(1):170-6.
PMID 9233581
Identification of a transforming MYB-GATA1 fusion gene in acute basophilic leukemia: a new entity in male infants.
Quelen C, Lippert E, Struski S, Demur C, Soler G, Prade N, Delabesse E, Broccardo C, Dastugue N, Mahon FX, Brousset P.
Blood. 2011 May 26;117(21):5719-22. Epub 2011 Apr 7.
PMID 21474671


This paper should be referenced as such :
Quelen, C
Acute basophilic leukemia - t(X;6)(p11;q23)
Atlas Genet Cytogenet Oncol Haematol. 2012;16(11):848-851.
Free journal version : [ pdf ]   [ DOI ]
On line version :
History of this paper:
Dastugue, N. Acute basophilic leukemia - t(X;6)(p11;q23). Atlas Genet Cytogenet Oncol Haematol. 1998;2(2):58-58.

Translocations implicated (Data extracted from papers in the Atlas)

 t(X;6)(p11;q23) MYB/GATA1

External links

MYB (6q23.3) GATA1 (Xp11.23)

MYB (6q23.3) GATA1 (Xp11.23)

Mitelman databaset(X;6)(p11;q23)
COSMICHisto = - Site = haematopoietic_and_lymphoid_tissue (COSMIC)
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9861/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9870/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
Mitelman databaseMYB/GATA1 [MCList]  MYB (6q23.3) GATA1 (Xp11.23)
TICdbMYB/GATA1  MYB (6q23.3) GATA1 (Xp11.23)
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