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Blood, Vol. 94 No. 5 (September 1), 1999:
pp. 1820-1824
Fusion of a Novel Gene, BTL, to ETV6 in Acute Myeloid
Leukemias With a t(4;12)(q11-q12;p13)
Jan Cools,
Chrystèle Bilhou-Nabera,
Iwona Wlodarska,
Christine Cabrol,
Pascaline Talmant,
Philippe Bernard,
Anne Hagemeijer, and
Peter Marynen
From the Center for Human Genetics, Flanders Interuniversity
Institute for Biotechnology, University of Leuven, Leuven, Belgium;
Hematology Laboratory, University Victor Segalen Bordeaux 2, Bordeaux,
France; Hôpital Cantonal Universitaire, Genève,
Switzerland; and Centre Hospitalier Régional de Nantes, Nantes,
France.
The ETV6 gene (also known as TEL) is the main target
of chromosomal translocations affecting chromosome band 12p13. The
rearrangements fuse ETV6 to a wide variety of partner genes in
both myeloid and lymphoid malignancies. We report here 4 new cases of
acute myeloid leukemia (AML) with very immature myeloblasts
(French-American-British [FAB]-M0) and with a
t(4;12)(q11-q12;p13). In all cases, ETV6 was found recombined
to a new gene, homologous to the mouse Brx gene. The
gene was named BTL (Brx-like
Translocated in Leukemia). Reverse
transcriptase-polymerase chain reaction (RT-PCR) experiments indicate
that the expression of the BTL-ETV6 transcript, but not
of the reciprocal ETV6-BTL transcript, is a common
finding in these leukemias. In contrast to the majority of other ETV6 fusions, both the complete helix-loop-helix (HLH) and ETS
DNA binding domains of ETV6 are present in the predicted BTL-ETV6 fusion protein, and the chimeric gene is transcribed from the BTL promoter.
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