Acute basophilic leukemiat(X;6)(p11;q23) MYB/GATA1

2012-06-01   Cathy Quelen 

1.Institut National de la Sante et de la Recherche Medicale, U1037, Centre de Recherche sur le Cancer de Toulouse, Toulouse, France
2.Genetique des Hemopathies, Laboratoire dHematologie, Hopital Purpan, 31059 Toulouse Cedex, France

Clinics and Pathology


Rare type of acute myeloid leukemia (AML)

Phenotype stem cell origin

Basophilic precursor.


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.


Hyperhistaminemia syndrome has been reported in some of the cases.
Atlas Image
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.


Major component of undifferentiated blasts and minor component of basophilic blasts containing large granules reacting positively to toluidine blue staining.


AML protocols. All patients received standard therapy for childhood AML; Two out of 4 cases reported underwent intrafamilial hematopoietic stem cell transplantation.


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).


Good response to standard therapy for childhood AML.


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


Atlas Image
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 morphological


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)
Atlas Image
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 name
MYB (v-myb myeloblastosis viral oncogene homolog (avian))
Protein description
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 name
GATA1 (GATA binding protein 1 (globin transcription factor1))
Protein description
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


5MYB-3GATA1. Breakpoint occurred in the intron 8-9 of MYB and in the intron 4-5 of GATA1.


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.
Atlas Image
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.


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.


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.

Highly cited references

Pubmed IDYearTitleCitations
316483212019Transcriptome analysis offers a comprehensive illustration of the genetic background of pediatric acute myeloid leukemia.17
214746712011Identification of a transforming MYB-GATA1 fusion gene in acute basophilic leukemia: a new entity in male infants.14
305997752019c-MYB and DMTF1 in Cancer.13
284180722017MYB-GATA1 fusion promotes basophilic leukaemia: involvement of interleukin-33 and nerve growth factor receptors.7
212529852011In vivo expression of an aberrant MYB-GATA1 fusion induces leukemia in the presence of GATA1 reduced levels.5
358654332022Acute Basophilic Leukemia: Recent Molecular and Diagnostic Update.0
349153422022Acute myeloid leukemia with t(X;6)9p11;q23);MYB-GATA1 and female sex: GATA1 insufficiency may be insufficient for pathogenesis.0
336611692022A Case of Congenital Leukemia With MYB-GATA1 Fusion Gene in a Female Patient.0
326342542020A case of pure erythroid leukemia with MYB-GATA1 fusion that developed tumor lysis syndrome with dexamethasone.0


Pubmed IDLast YearTitleAuthors
92335811997Acute basophilic leukaemia and translocation t(X;6)(p11;q23).Dastugue N et al
214746712011Identification of a transforming MYB-GATA1 fusion gene in acute basophilic leukemia: a new entity in male infants.Quelen C et al


Fusion gene

MYB/GATA1 MYB (6q23.3) GATA1 (Xp11.23) M t(X;6)(p11;q23)|MYB/GATA1 MYB (6q23.3) GATA1 (Xp11.23) TIC


Cathy Quelen

Acute basophilic leukemiat(X;6)(p11;q23) MYB/GATA1

Atlas Genet Cytogenet Oncol Haematol. 2012-06-01

Online version:;6)(p11;q23)

Historical Card

1998-02-01 Acute basophilic leukemiat(X;6)(p11;q23) MYB/GATA1 by  Nicole Dastugue 

Genetique des Hemopathies, Laboratoire dHematologie, Hopital Purpan, 31059 Toulouse Cedex, France