Identification of a transforming MYB-GATA1 fusion gene in acute basophilic leukemia: a new entity in male infants

Acute basophilic leukemia (ABL) is a rare subtype of acute leukemia with clinical features and symptoms related to hyperhistaminemia because of excessive growth of basophils. No known recurrent cytogenetic abnormality is associated with this leukemia. Rare cases of t(X;6)(p11;q23) translocation have...

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Bibliographic Details
Published in:Blood 2011-05, Vol.117 (21), p.5719-5722
Main Authors: Quelen, Cathy, Lippert, Eric, Struski, Stephanie, Demur, Cécile, Soler, Gwendoline, Prade, Nais, Delabesse, Eric, Broccardo, Cyril, Dastugue, Nicole, Mahon, François-Xavier, Brousset, Pierre
Format: Article
Language:English
Subjects:
Animals
Biological and medical sciences
Blotting, Western
Cancer
Chromosomes, Human, Pair 6
Chromosomes, Human, Pair 6 - genetics
Chromosomes, Human, X
Chromosomes, Human, X - genetics
Female
GATA1 Transcription Factor
GATA1 Transcription Factor - genetics
Hematologic and hematopoietic diseases
Humans
In Situ Hybridization, Fluorescence
Infant
Karyotyping
Leukemia, Basophilic, Acute
Leukemia, Basophilic, Acute - genetics
Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis
Life Sciences
Male
Medical sciences
Mice
Mice, Inbred C57BL
Oncogene Proteins, Fusion
Oncogene Proteins, Fusion - genetics
Oncogenes
Oncogenes - genetics
Prognosis
Proto-Oncogene Proteins c-myb
Proto-Oncogene Proteins c-myb - genetics
Reverse Transcriptase Polymerase Chain Reaction
RNA, Messenger
RNA, Messenger - genetics
Translocation, Genetic
Tumor Stem Cell Assay
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Summary:Acute basophilic leukemia (ABL) is a rare subtype of acute leukemia with clinical features and symptoms related to hyperhistaminemia because of excessive growth of basophils. No known recurrent cytogenetic abnormality is associated with this leukemia. Rare cases of t(X;6)(p11;q23) translocation have been described but these were sporadic. We report here 4 cases of ABL with a t(X;6)(p11;q23) translocation occurring in male infants. Because of its location on chromosome 6q23, MYB was a good candidate gene. Our molecular investigations, based on fluorescence in situ hybridization and rapid amplification of cDNA ends, revealed that the translocation generated a MYB-GATA1 fusion gene. Expression of MYB-GATA1 in mouse lineage-negative cells committed them to the granulocyte lineage and blocked at an early stage of differentiation. Taken together, these results establish, for the first time, a link between a recurrent chromosomal translocation and the development of this particular subtype of infant leukemia.
ISSN:0006-4971
1528-0020
DOI:10.1182/blood-2011-01-333013